Hledat klinickou studii
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Studie přijímající pacienty
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Národní klinické studie
RAKOUSKO
WIEN
ADDRESS: NOT PROVIDED - AT
TALAPRO-1: A phase 2, open-label, response rate study of talazoparib in men with DNA repair defects metastatic castration-resistant prostate cancer who previously received taxane-based chemotherapy and progressed on at least 1 novel hormonal agent (enzalutamide and/or abiraterone acetate/prednisone) - AT
Institution: Information not provided - AT
RAKOUSKO
WIEN
ADDRESS: NOT PROVIDED - AT
A Phase 2 Study of TAS-117 in Patients With Advanced Solid Tumors Harboring Germline PTEN Inactivating Mutations - AT
Institution: Information not provided - AT
BELGIE
ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE
CUV152: Une étude ouverte preuve de concept, phase IIa, visant à évaluer l'innocuité et l'efficacité des implants sous-cutanés d'afamélanotide chez des patients atteints de Xeroderma Pigmentosum C et V (XPC et XPV) - BE
Institution: Information not provided - BE
BELGIE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
RecSAMP: Metabotypering van kinderen met overgewicht en obesitas naar vroege detectie van insulineresistentie en laaggradige ontsteking door middel van een rectale monsternemer
Universitair Ziekenhuis Brussel
Endocrinologie
BELGIE
VLAAMS BRABANT
LEUVEN
OLE-IEDAT: Open-label, langdurige extensie-studie van intra-erytrocyten Dexamethason natriumfosfaat bij patiënten met Ataxia Telangiectasia die deelnamen aan de IEDAT-02-2015-studie - BE
UZ Leuven - Campus Gasthuisberg
Laboratory of Pediatric Immunology
FRANCIE
AUVERGNE-RHONE-ALPES
BRON
Etude BABH: Efficacité du bevacizumab dans les hémorragies sévères associées à la maladie de Rendu-Osler. Etude nationale multicentrique de Phase III
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service de génétique
FRANCIE
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
PROPLACO-Tel: Étude prospective du traitement antiplaquettaire et anticoagulant dans la télangiectasie hémorragique héréditaire -FR
CHU de Clermont-Ferrand - Hôpital Gabriel Montpied
CHU Clermont Ferrand
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
PROPHECI: Supplémentation en PyROphosPHate pour combattre la calcification ECtopIque dans le PseudoXanthoma Elasticum -FR
Institution: Information not provided - FR
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Fluconazole as a New Therapeutic Tool in Hypercalciuric Patients With Increased 1,25(OH)2D Levels
Institution: Information not provided - FR
NĚMECKO
Baden-Württemberg
FREIBURG
SIPA-SOS: Offene Phase II Studie mit Sirolismus in Patienten mit segmentalem Überwuchssyndrom
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie
NĚMECKO
Baden-Württemberg
HEIDELBERG
DOAC-Child: Pharmakokinetik eines mikrodosierten Cocktails bestehend aus Rivaroxaban, Apixaban und Edoxaban in Kindern mit angeborenen Herzfehlern
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
Kinderheilkunde II - Klinik für Kinderkardiologie und angeborene Herzfehler
NĚMECKO
Bayern
REGENSBURG
The influence of Timolol nasal spray on epistaxis in Osler's disease patients
Universitätsklinikum Regensburg
Klinik und Poliklinik für Hals-Nasen-Ohren-Heilkunde
NĚMECKO
Berlin
ADDRESS: NOT PROVIDED - DE
Offene, langfristige Extensionsbehandlung mit Intra-Erythrozyten-Dexamethason-Natriumphosphat bei Patienten mit Ataxia Telangiectasia, die an der IEDAT-02-2015-Studie teilgenommen haben -DE-
Institution: Information not provided - DE
NĚMECKO
Berlin
ADDRESS: NOT PROVIDED - DE
CUV156: Eine offene Proof-of-Concept-Studie der Phase IIa zur Bewertung der Sicherheit und Wirksamkeit von subkutanen Afamelanotid-Implantaten bei Patienten mit Xeroderma Pigmentosum (XP)
Institution: Information not provided - DE
NĚMECKO
Hessen
FRANKFURT AM MAIN
OLE-IEDAT: Offene, langfristige, verlängerte Behandlung mit Intra-Erythrozyten-Dexamethason-Natriumphosphat bei Patienten mit Ataxia Telangiectasia, die an der Studie IEDAT-02-2015 teilgenommen haben
Universitätsklinikum Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose
NĚMECKO
Nordrhein-Westfalen
BONN
EyNeP: Intravitreales Aflibercept (Eylea®) zur Therapie von choroidalen Neovaskularisationen und fibrovaskulären Proliferationen in Patienten mit Pseudoxanthoma elasticum (Phase II)
Universitäts-Augenklinik Bonn
ITÁLIE
LOMBARDIA
PAVIA
Effetto di losartan vs nebivololo vs l'associazione di entrambi sulla progressione della dilatazione della radice aortica in pazienti affetti da sindrome di Marfan portatori di mutazione sul gene FBN1
Fondazione IRCCS Policlinico San Matteo
Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti
ITÁLIE
LOMBARDIA
PAVIA
THALI-HHT: Efficacia del Talidomide nel trattamento della Telangiectasia emmorragica ereditaria - IT
Fondazione IRCCS Policlinico San Matteo
Clinica Medica III
NIZOZEMSKO
Gelderland
NIJMEGEN
An Uncontrolled, Pilot-study Assessing the Efficacy of Octreotide Long-acting Release to Decrease Transfusion Requirements and Endoscopy Frequency in Patients With Rendu-Osler-Weber and Gastrointestinal Bleeding
Radboudumc - Radboud universitair medisch centrum
Afdeling Maag-, Darm- en Leverziekten
NIZOZEMSKO
Zuid-Holland
ROTTERDAM
COMPARE 60/80 HBR: Comparison of the Supraflex Cruz 60 Micron Stent Strut Versus the Ultimaster Tansei 80 Micron Stent Strut in High Bleeding Risk PCI Population
Maasstad Ziekenhuis
Polikliniek Cardiologie
ŠPANĚLSKO
Andalucía
MÁLAGA
Respuesta al lansoprazol oral de los niveles del pirofosfato inorgánico en pacientes con enfermedad de Grönblad-Stranberg (Pseudoxantoma Elasticum) -ES
Hospital Universitario Virgen de la Victoria
Unidad de Medicina Interna
ŠPANĚLSKO
Cataluña
L'HOSPITALET DE LLOBREGAT
Estudio aleatorizado, controlado con placebo, doble ciego, multicéntrico de prueba de concepto para evaluar la seguridad y la eficacia de dos dosis de VAD044 en pacientes con telangiectasia hemorrágica hereditaria (THH) -ES
Hospital Universitari de Bellvitge
Servicio de Medicina Interna
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
EPIK-P2: Estudio de fase II doble ciego con un periodo inicial aleatorizado, controlado con placebo y de 16 semanas de duración para evaluar la eficacia, la seguridad y la farmacocinética de alpelisib (BYL719) en pacientes pediátricos y adultos con síndrome de sobrecrecimiento asociado a PIK3CA -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Estudio preliminar de fase IIa, sin enmascaramiento, para evaluar la seguridad y la eficacia de los implantes subcutáneos de afamelanotida en pacientes con xerodermia pigmentosa C y V (XPC y XPV) -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
MADRID
OLE-IEDAT: Tratamiento de extensión a largo plazo y sin enmascaramiento usando fosfato sódico de dexametasona intraeritrocitaria en pacientes con ataxia telangiectasia que participaron en el estudio IEDAT-02-2015
Hospital Universitario La Paz
Servicio de Neurología
ŠPANĚLSKO
Madrid
MADRID
Efectos de N-acetil-L-leucina en la Ataxia-Telangiectasia; un ensayo en fase II multinacional, multicéntrico, sin enmascaramiento para los pacientes y con enmascaramiento para los evaluadores -ES
Hospital Universitario La Paz
Servicio de Neurología infantil
ŠVÝCARSKO
Suisse Alémanique
BERN
LSCI-NSURG: Intraoperative Laser Speckle Contrast Imaging to Assess Blood Flow During Neurosurgery
Universitätsspital Inselspital
Universitätsklinik für Neurochirurgie
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Randomized Double-Blind Controlled Trial of Everolimus in Children and Adolescents With PTEN Mutations (RAD001XUS257T)
Institution: Information not provided - US
RAKOUSKO
SALZBURG
SALZBURG
A Phase II, Open Study to Assess Efficacy and Safety of Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated Locally Advanced/Metastatic Squamous Cell Carcinoma - AT
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
EB-Haus Austria
RAKOUSKO
SALZBURG
SALZBURG
HOLOGENE17: Prospective, Open-label, Uncontrolled Clinical Trial to Assess the Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified With a Gamma-retroviral (rv) Vector Carrying COL17A1 cDNA for Restoration of Epidermis in Patients With Junctional Epidermolysis Bullosa (Phase 1-2)
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
EB-Haus Austria
RAKOUSKO
SALZBURG
SALZBURG
HOLOGENE7: Prospective, Open-label, Uncontrolled Clinical Trial to Assess the Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified With a Gamma-retroviral (rv) Vector Carrying COL7A1 cDNA for Restoration of Epidermis in Patients With Recessive Dystrophic Epidermolysis Bullosa (Phase 1-2) - AT
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
EB-Haus Austria
RAKOUSKO
SALZBURG
SALZBURG
An Interventional, Multicenter, Single Arm, Phase I/IIa Clinical Trial to Investigate the Efficacy and Safety of Allo-APZ2-EB on Epidermolysis Bullosa (EB) - AT
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
EB-Haus Austria
RAKOUSKO
WIEN
ADDRESS: NOT PROVIDED - AT
REFLECT: A dual-center prospective phase I/II trial to establish safety, tolerability and to obtain first data on efficacy of losartan in children with recessive dystrophic epidermolysis bullosa (RDEB) - AT
Institution: Information not provided - AT
RAKOUSKO
WIEN
ADDRESS: NOT PROVIDED - AT
Phase III Clinical Trial for CPX-351 in Myeloid Leukemia in Children with Down Syndrome 2018 - AT
Institution: Information not provided - AT
RAKOUSKO
WIEN
ADDRESS: NOT PROVIDED - AT
REAL 8: A Study Comparing the Effect and Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® as Well as Evaluating Long-term Safety of Somapacitan in a Basket Study Design in Children With Short Stature Either Born Small for Gestational Age or With Turner Syndrome, Noonan Syndrome, or Idiopathic Short Stature - AT
Institution: Information not provided - AT
BELGIE
ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE
MERGE - MRX-800: Une étude visant à évaluer la sécurité à long terme du maralixibat, un inhibiteur du transporteur d'acide biliaire dépendant du sodium apical (ASBTi), dans le traitement de la maladie hépatique cholestatique chez des sujets qui ont déjà participé à une étude sur le maralixibat - BE
Institution: Information not provided - BE
BELGIE
ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE
PREVEnt : Étude multicentrique, randomisée, en double aveugle, contrôlée contre placebo visant à évaluer l'enzastaurine dans la prévention des événements artériels chez des patients atteints de syndrome d'Ehlers-Danlos vasculaire (SEDv) confirmé par la détection de mutations du gène COL3A1, suivie d'une extension en ouvert (EO) - BE
Institution: Information not provided - BE
BELGIE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
RISE/MRX-801: Étude ouverte de phase 2 visant à évaluer l'innocuité et la tolérabilité du maralixibat dans le traitement des nourrissons atteints de maladies hépatiques cholestatiques, y compris la cholestase intrahépatique familiale progressive et le syndrome d'Alagille - BE
Cliniques universitaires Saint-Luc - UCLouvain
Service de gastro-entérologie et hépatologie pédiatrique
KANADA
Québec
ADDRESS: NOT PROVIDED - CA
MOVE Trial: A Phase 3, Efficacy and Safety Study of Oral Palovarotene for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP) -GB
Institution: Information not provided - CA
KANADA
Québec
ADDRESS: NOT PROVIDED - CA
EPIK-P2: A Phase II double-blind study with an upfront, 16-week randomized, placebo-controlled period, to assess the efficacy, safety and pharmacokinetics of alpelisib (BYL719) in pediatric and adult patients with PIK3CA-related overgrowth spectrum (PROS) - CA
Institution: Information not provided - CA
KANADA
Québec
ADDRESS: NOT PROVIDED - CA
A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) With a Crossover to Open-Label Once Weekly Setmelanotide in Patients With Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation -CA
Institution: Information not provided - CA
FINSKO
Finland
HELSINKI
Immunodeficiency in cartilage-hair hypoplasia: sub-project on safety of vaccination against chickenpox -FI
HUS - Helsinki University Hospital
New Children's Hospital
FRANCIE
AUVERGNE-RHONE-ALPES
LYON
VETCOSED: Bénéfice du port de VETement COmpressif (modèle CICATREX SED®) pour les patients atteints du Syndrome d'Ehlers-Danlos de type hypermobile
Centre Médico-Chirurgical de Réadaptation des Massues - Croix-Rouge française
Médecine physique et réadaptation Adultes
FRANCIE
BOURGOGNE-FRANCHE-COMTE
DIJON
SESAM : Essai de phase II en double aveugle, multicentrique et contrôlé par placebo, évaluant l'efficacité et la tolérance de l'alpelisib (BYL719) chez les enfants et les adultes atteints du syndrome de mégalencéphalie-malformation capillaire-polymicrogyrie (MCAP) -FR
CHU Dijon Bourgogne - Hôpital François Mitterrand
Centre Hospitalier Universitaire Dijon
FRANCIE
GRAND-EST
VANDOEUVRE-LÈS-NANCY
NOVASED: Etude de l'efficacité des vêtements compressifs NOVATEX MEDICAL dans le traitement des syndromes d'Ehlers-Danlos.
CHU de Nancy - Hôpitaux de Brabois
Service de médecine interne et immunologie clinique
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
MERGE - MRX-800: A Long-Term Safety Study of Maralixibat, an Apical Sodium Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Subjects Who Previously Participated in a Maralixibat Study - FR
Institution: Information not provided - FR
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
RISE: Open-Label, Phase 2 Study to Evaluate the Safety and Tolerability of Maralixibat in the Treatment of Infants with Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis and Alagille Syndrome. - Maralixibat Infant Safety Evaluation -FR
Institution: Information not provided - FR
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
EPIK-P3: Etude de phase II visant à évaluer la sécurité d'emploi et l'efficacité à long terme de l'alpelisib chez les patients atteints de PROS (PIK3A Related Overgrowth Spectrum) ayant déjà participé à l'étude CBYL719F12002 (EPIK-P1)
Institution: Information not provided - FR
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Essai de phase 3, randomisé, en double aveugle, évaluant deux formulations de setmelanotide (quotidienne et hebdomadaire) suivi du setmelanotide hebdomadaire en ouvert chez les patients présentant des anomalies génétiques spécifiques de la voie du récepteur de la mélanocortine-4 et traités actuellement avec une dose stable de la formulation quotidienne -FR
Institution: Information not provided - FR
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Étude de phase 2 randomisée, en double aveugle, contrôlée par placebo, multicentrique, en deux parties, évaluant l'efficacité, l'innocuité et la tolérance du RGH-706 chez les patients atteints du syndrome de Prader-Willi -FR
Institution: Information not provided - FR
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
PREVEnt : Etude multicentrique, randomisée, en double aveugle, contrôlée par placebo, de l'enzastaurine pour la prévention des événements artériels chez les patients atteints du syndrome d'Ehlers-Danlos vasculaire (vEDS) confirmé par des mutations du COL3A1, suivie d'une extension en ouvert (OLE) -FR
Institution: Information not provided - FR
FRANCIE
ILE-DE-FRANCE
PARIS
ARCADE: Blocage du récepteur de l'angiotensine II chez des sujets atteints de syndrome d'Ehlers Danlos vasculaire: essai multicentrique randomisé contrôlé en double insu contre placebo (Phase III)
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
Service de génétique - CR des Maladies Vasculaires Rares
FRANCIE
ILE-DE-FRANCE
PARIS
MABUL : Etude comparative de la cicatrisation des ulcérations cutanées chroniques de l'épidermolyse bulleuse dystrophique récessive sous pansement classique versus membrane amniotique (Phase III)
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Service de dermatologie
FRANCIE
ILE-DE-FRANCE
PARIS
EPIK-P2: Etude de phase II en double aveugle avec une période initiale de 16 semaines, randomisée et contrôlée contre placebo, évaluant l'efficacité, la tolérance et la pharmacocinétique de l'alpelisib (BYL719) chez des patients pédiatriques et adultes présentant un PROS (PIK3CA-related overgrowth spectrum)
Hôpital Necker-Enfants Malades
Néphropathies héréditaires et rein en développement
FRANCIE
ILE-DE-FRANCE
PARIS
FancoMob : Etude pilote évaluant la faisabilité de la mobilisation sanguine et de la collection des cellules CD34+ après traitement par G-CSF et plérixafor chez des patients atteints d'Anémie de Fanconi en vue d'un traitement ulterieur par thérapie génique (Phase I-II)
Hôpital Necker-Enfants Malades
Service d'Hématologie adulte
FRANCIE
ILE-DE-FRANCE
PARIS
A Phase 2 Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of a RARy-Specific Agonist (Palovarotene) in the Treatment of Preosseous Flare-ups in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) (Phase II) - FR
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire
FRANCIE
ILE-DE-FRANCE
PARIS
Prolongation d'une étude de phase 2, en ouvert, évaluant l'éfficacité et la sécurité d'une étude agoniste spécifique de RARy (Palovarotene) dans le traitement des poussées pré-osseuse chez des sujets atteints de Fibrodysplasie ossifiante progressive (FOP)- FR
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire
FRANCIE
ILE-DE-FRANCE
PARIS
Etude de phase 2, en ouvert, évaluant l'éfficacité et la sécurité d'une étude agoniste spécifique de RARy (Palovarotene) pour la prévention de l'ossification hétérotopique chez des sujets atteints de Fibrodysplasie ossifiante progressive (FOP)
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire
FRANCIE
ILE-DE-FRANCE
PARIS
ACTHYF: Evaluation de efficacité d'un traitement systématique par acide folinique et hormone thyroîdienne sur le développement psychomoteur du jeune enfant trisomique 21 - FR
Institut Jérôme Lejeune
FRANCIE
OCCITANIE
TOULOUSE
OXYJEUNE : Effets d'administrations intranasales d'ocytocine sur l'anxiété, les troubles du comportement et l'hyperphagie chez des enfants âgés de 3 à 12 ans présentant un syndrome de Prader-Willi (Phase III)
CHU de Toulouse - Hôpital des Enfants
Centre de référence du syndrome de Prader-Willi
FRANCIE
OCCITANIE
TOULOUSE
Étude interventionnelle de suivi à long terme jusqu'à l'âge de 4 ans des enfants atteints du syndrome de Prader-Willi inclus dans l'essai clinique OTBB3 et comparaison avec une cohorte non traitée d'enfants atteints du syndrome de Prader-Willi. -FR
CHU de Toulouse - Hôpital des Enfants
Centre de référence du syndrome de Prader-Willi
NĚMECKO
Bayern
GARMISCH-PARTENKIRCHEN
STOPFOP: Saracatinib-Studie zur Vorbeugung von FOP. Eine 6-monatige randomisierte, kontrollierte Doppelblindstudie mit AZD0530 im Vergleich zu Placebo, gefolgt von einer 12-monatigen Open-Label-Verlängerungsphase
Klinikum Garmisch-Partenkirchen GmbH
Abteilung für Kinder- & Jugendmedizin
NĚMECKO
Bayern
MÜNCHEN
SynCoRAS: Verbesserung der synaptischen Plastizität und der kognitiven Funktion bei Störungen des RAS-Signalweges (GeNeRARe-Studie)
TUM Fakultät für Medizin
NĚMECKO
Bayern
MÜNCHEN
SynCoRAS: Verbesserung der synaptischen Plastizität und der kognitiven Funktion bei Störungen des RAS-Signalweges (GeNeRARe-Studie)
kbo-Kinderzentrum München gemeinnützige GmbH
kbo-Kinderzentrum München
NĚMECKO
Berlin
ADDRESS: NOT PROVIDED - DE
MOVE-Studie: Eine Phase 3, Wirksamkeits- und Sicherheitsstudie von oralem Palovaroten zur Behandlung der Fibrodysplasie Ossificans Progressiva (FOP)
Institution: Information not provided - DE
NĚMECKO
Berlin
ADDRESS: NOT PROVIDED - DE
EPIK-P2: A Phase II double-blind study with an upfront, 16-week randomized, placebo-controlled period, to assess the efficacy, safety and pharmacokinetics of alpelisib (BYL719) in pediatric and adult patients with PIK3CA-related overgrowth spectrum (PROS) - DE
Institution: Information not provided - DE
NĚMECKO
Berlin
ADDRESS: NOT PROVIDED - DE
Eine randomisierte Phase-3-Doppelblindstudie mit zwei Setmelanotid-Formulierungen (täglich und wöchentlich) mit einem Crossover zu einmal wöchentlichem Setmelanotid mit offener Zulassung bei Patienten mit spezifischen Gendefekten im Melanocortin-4-Rezeptor-Signalweg, die derzeit eine stabile Dosis der einmal täglichen Formulierung erhalten
Institution: Information not provided - DE
IRSKO
County Dublin
ADDRESS: NOT PROVIDED - IE
EPIK-P3: A phase II study to evaluate the long-term safety and efficacy of alpelisib in patients with PIK3CA-Related Overgrowth Spectrum (PROS) who previously participated in Study CBYL719F12002 (EPIK-P1) - IE
Institution: Information not provided - IE
ITÁLIE
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Studio in aperto per valutare l'efficacia e la tollerabilità di Rosiglitazone somministrato per via orale in pazienti affetti da Fibrodisplasia Ossea Progressiva (FOP)
Institution: Information not provided - IT
ITÁLIE
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Follow-up di studio di fase I/II sull'impiego di cellule T CaspaCide derivate da donatore familiare parzialmente compatibile sottoposto a procedura di T deplezione alfa-beta, in pazienti pediatrici affetti da disordini ematologici dopo trapianto aploidentico - IT
Institution: Information not provided - IT
ITÁLIE
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Studio randomizzato, in doppio cieco, controllato con placebo, multicentrico, in 2 parti, di fase 2, per valutare l'efficacia, la sicurezza e la tollerabilità di RGH-706 nella sindrome di Prader-Willi
Institution: Information not provided - IT
ITÁLIE
LIGURIA
GENOVA
Studio clinico multicentrico, di fase 2, open label, di estensione per valutare la sicurezza e la tollerabilita' di FBS0701 (SSP-004184) in bambini, adolescenti ed adulti con sovraccarico di ferro trasfusione-dipendente
Ospedali Galliera
S.S.D. Microcitemia, anemie congenite e dismetabolismo del ferro
ITÁLIE
LOMBARDIA
MILANO
Studio in aperto, multicentrico, di estensione per valutare la sicurezza a lungo termine di Zorblisa (SD-101-6.0) in pazienti con Epidermolisi Bollosa (studio di fase III) - IT
IRCCS Ca' Granda Ospedale Maggiore Policlinico - Padiglione De Marchi
U.O.S. di Infettivologia Pediatrica
ITÁLIE
PIEMONTE
TORINO
EPIK-P2: A Phase II double-blind study with an upfront, 16-week randomized, placebo-controlled period, to assess the efficacy, safety and pharmacokinetics of alpelisib (BYL719) in pediatric and adult patients with PIK3CA-related overgrowth spectrum (PROS) - IT
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Genetica Clinica Pediatrica
ITÁLIE
SICILIA
MESSINA
Studio randomizzato, controllato con placebo, cross-over, in doppio cieco di una terapia di supporto metabolico con Ubichinolo Q10 e un complesso multivitaminico B ed E in due coorti di pazienti con autismo idiopatico e sindromico (sindrome di Phelan-McDermid)
Università degli Studi di Messina
JAPONSKO
JAPAN
ADDRESS : NOT PROVIDED - JP
Multicenter randomized double-blind comparison test followed by open-label continuous administration test of NPC-12T for Fibrodysplasia Ossificans Progressiva
Institution: Information not provided - JP
NIZOZEMSKO
Utrecht
ADDRESS: NOT PROVIDED - NL
EPIK-P2: A Phase II double-blind study with an upfront, 16-week randomized, placebo-controlled period, to assess the efficacy, safety and pharmacokinetics of alpelisib (BYL719) in pediatric and adult patients with PIK3CA-related overgrowth spectrum (PROS) - NL
Institution: Information not provided - NL
NIZOZEMSKO
Utrecht
UTRECHT
Allogene stamcel transplantatie middels navelstreng bloed na verminderd toxiciteit conditionering met mesenchymale stromale cel co-infusie voor ernstige vormen van epidermolysis bullosa (fase II)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Immunologie
NIZOZEMSKO
Zuid-Holland
ROTTERDAM
Dutch Growth Hormone Cohort study in children with Prader-Willi syndrome: Long-term effects on growth, body composition, activity level and psychosocial development
Stichting Kind en Groei
NIZOZEMSKO
Zuid-Holland
ROTTERDAM
Behandeling met N-acetylcysteïne voor skin picking gedrag in kinderen en jongvolwassenen met PWS: een gerandomiseerde, gecontroleerde, cross-over studie
Stichting Kind en Groei
NORSKO
Østlandet
ADDRESS: NOT PROVIDED - NO
EPIK-P2: A Phase II double-blind study with an upfront, 16-week randomized, placebo-controlled period, to assess the efficacy, safety and pharmacokinetics of alpelisib (BYL719) in pediatric and adult patients with PIK3CA-related overgrowth spectrum (PROS) - NO
Institution: Information not provided - NO
ŠPANĚLSKO
Comunidad Valenciana
VALENCIA
PIVOINE: Estudio de continuación; estudio en fase III, multicéntrico, sin enmascaramiento para continuar evaluando la seguridad y la eficacia de las cápsulas de palovaroteno en participantes de sexo masculino y femenino de >=14 años de edad que padecen fibrodisplasia osificante progresiva (FOP), han completado el estudio PVO-1A-301 o PVO-1A-202/PVO-1A-204 [...] -ES
Hospital Universitario y Politécnico La Fe
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
SOLO-1: Ensayo fase III, multicéntrico, aleatorizado, doble ciego, controlado con placebo, de mantenimiento con olaparib en monoterapia en pacientes con cáncer de ovario avanzado, estadio IIIb-IV de la FIGO, con mutación de BRCA que están en respuesta completa o parcial después de quimioterapia de primera línea basada en platino -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
FANCOLEN-II: Ensayo clínico en Fase II para evaluar la eficacia de la infusión de células autólogas CD34+ transducidas con un vector lentiviral portador del gen FANCA (Medicamento Huérfano) en pacientes con anemia de Fanconi subtipo A -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
FALKON: Estudio de fase II, de dos partes, con doble enmascaramiento y grupos paralelos, controlado con placebo, para evaluar la eficacia y la seguridad de 2 pautas posológicas de IPN60130 por vía oral para tratar la fibrodisplasia osificante progresiva en participantes de ambos sexos a partir de 5 años de edad
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
EPIK-P3: Estudio de fase II para evaluar la seguridad y la eficacia a largo plazo de alpelisib en pacientes con síndrome de sobrecrecimiento asociado a PIK3CA que hayan participado anteriormente en el estudio CBYL719F12002 (EPIK-P1)
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Seguimiento a largo plazo: estudio clínico de fase I/II para evaluar la seguridad y la eficacia de la infusión de células CD34+ autólogas transducidas con un vector lentiviral portador del gen FANCA (medicamento huérfano) en pacientes con anemia de Fanconi subtipo A
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Estudio en fase II, aleatorizado, doble ciego, controlado con placebo, multicéntrico y en 2 partes para evaluar la eficacia, la seguridad y la tolerabilidad de RGH-706 en el síndrome de Prader-Willi -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Progress: Estudio de fase II, aleatorizado, doble ciego y controlado con placebo para evaluar la eficacia, la seguridad y la tolerabilidad de INCB000928 en participantes con fibrodisplasia osificante progresiva -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
MADRID
Estudio abierto de fase III, multicéntrico y de un año de setmelanotida en pacientes pediátricos de 2 a <6 años de edad con causas genéticas raras de obesidad -ES
Hospital Infantil Universitario Niño Jesús
Servicio de Endocrinología, Crecimiento y Metabolismo
ŠPANĚLSKO
Madrid
MADRID
Ensayo clínico abierto, Fase II para evaluar la eficacia y seguridad del uso de eltrombopag en niños y adolescentes con Anemia de Fanconi -ES
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
ŠPANĚLSKO
Madrid
MADRID
ŠVÉDSKO
Region Stockholm
ADDRESS: NOT PROVIDED - SE
MOVE Trial: A Phase 3, Efficacy and Safety Study of Oral Palovarotene for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP) - SE
Institution: Information not provided - SE
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
EPIK-P2: A Phase II double-blind study with an upfront, 16-week randomized, placebo-controlled period, to assess the efficacy, safety and pharmacokinetics of alpelisib (BYL719) in pediatric and adult patients with PIK3CA-related overgrowth spectrum (PROS) - CH
Institution: Information not provided - CH
SPOJENÉ KRÁLOVSTVÍ
Greater London
ADDRESS: NOT PROVIDED - GB
EPIK-P2: A Phase II double-blind study with an upfront, 16-week randomized, placebo-controlled period, to assess the efficacy, safety and pharmacokinetics of alpelisib (BYL719) in pediatric and adult patients with PIK3CA-related overgrowth spectrum (PROS) - GB
Institution: Information not provided - GB
SPOJENÉ KRÁLOVSTVÍ
Greater London
ADDRESS: NOT PROVIDED - GB
A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) With a Crossover to Open-Label Once Weekly Setmelanotide in Patients With Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation -CA
Institution: Information not provided - GB
SPOJENÉ KRÁLOVSTVÍ
Greater London
ADDRESS: NOT PROVIDED - GB
A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) With a Crossover to Open-Label Once Weekly Setmelanotide in Patients With Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation -GB
Institution: Information not provided - GB
SPOJENÉ KRÁLOVSTVÍ
Greater London
ADDRESS: NOT PROVIDED - GB
PREVEnt: A multicenter, randomized, double-blind, placebo-controlled study of enzastaurin for the prevention of arterial events in patients with vascular Ehlers-Danlos Syndrome (vEDS) confirmed with COL3A1 mutations, followed by an open label extension (OLE) -GB
Institution: Information not provided - GB
SPOJENÉ KRÁLOVSTVÍ
Greater London
LONDON
Follow-up of Phase 1/2 Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR α β+T Cells in Pediatric Patients Affected by Hematological Disorders-GB
GOSH NHS Foundatin Trust
Great Ormond Street Hospital
SPOJENÉ KRÁLOVSTVÍ
Greater London
LONDON
A prospective placebo controlled phase II study to evaluate the use of allogeneic fibroblasts for the treatment of skin erosions in recessive dystrophic epidermolysis bulllosa
Guy's Hospital
Clinical Research Facilities
SPOJENÉ KRÁLOVSTVÍ
Greater London
LONDON
EBSTEM: A prospective phase I/II study to evaluate allogeneic mesenchymal stromal cells for the treatment of skin disease in children with recessive dystrophic epidermolysis bullosa
Guy's Hospital
Clinical Research Facilities
SPOJENÉ KRÁLOVSTVÍ
Merseyside
LIVERPOOL
Effects of exenatide on appetite and ghrelin levels in patients with Prader-Willi Syndrome
Fazakerley Hospital
University Hospital Aintree - Diabetes and Endocrinology
SPOJENÉ KRÁLOVSTVÍ
West Midlands
BIRMINGHAM
Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity
University Hospital Birmingham
Marshfield Clinic
SPOJENÉ STÁTY
Colorado
ENGLEWOOD
SPOJENÉ STÁTY
Illinois
CHICAGO
An Open Label Extension, Multi-Center, Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis Bullosa (Terminated) - US
Children's Hospital of Chicago
SPOJENÉ STÁTY
Massachusetts
BOSTON
A Randomized Phase 2 Study of Vincristine Versus Sirolimus to Treat High Risk Kaposiform Hemangioendothelioma (KHE) - US
Boston Children's Hospital
SPOJENÉ STÁTY
Ohio
CINCINNATI
Quercetin in Children With Fanconi Anemia; a Pilot Study (Phase 1) - US
Cincinnati Children's Hospital Medical Center
Department of Pediatry
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Phase 2 Study: Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Children and Adolescents With Prader-Willi Syndrome
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Phase 1 Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Evaluating the Neurophysiologic and Clinical Effects of Single-Dose Acamprosate, Lovastatin, Minocycline and Placebo in Fragile X Syndrome
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Effects of AFQ056 on Language Learning in Young Children With Fragile X Syndrome (FXS)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Multicenter Extension Study to Evaluate the Long-Term Safety and Durability of the Therapeutic Effect of LUM001, an Apical Sodium-Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Pediatric Subjects With Alagille Syndrome
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Trametinib in Treating Patients With Epithelioid Hemangioendothelioma That Is Metastatic, Locally Advanced, or Cannot Be Removed by Surgery
Institution: Information not provided - US
RAKOUSKO
WIEN
ADDRESS: NOT PROVIDED - AT
ACcomplisH: A Phase 2, Multicenter, Double-blind, Randomized, Placebo-controlled, Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Subcutaneous Doses of TransCon CNP Administered Once Weekly for 12 Months in Prepubertal Children With Achondroplasia - AT
Institution: Information not provided - AT
RAKOUSKO
WIEN
ADDRESS: NOT PROVIDED - AT
CAHtalyst: A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Adult Subjects With Classic Congenital Adrenal Hyperplasia, Followed by Open-Label Treatment (Phase 3) - AT
Institution: Information not provided - AT
BELGIE
ANTWERPEN
ANTWERPEN-EDEGEM
MCDS-Therapie: een open-label fase I / IIa-studie waarbij carbamazepine (CBZ) wordt gebruikt voor de behandeling van skeletdysplasie bij kinderen - BE
Centrum Medische Genetica - UZA
Centrum Medische Genetica - Het Universitair Ziekenhuis Antwerpen
BELGIE
ANTWERPEN
ANTWERPEN-EDEGEM
Een gerandomiseerde fase 2-studie met meerdere doses om de veiligheid, verdraagbaarheid, farmacokinetiek en werkzaamheid van recifercept bij kinderen met achondroplasie te beoordelen - BE
Centrum Medische Genetica - UZA
Centrum Medische Genetica - Het Universitair Ziekenhuis Antwerpen
BELGIE
ANTWERPEN
EDEGEM (ANTWERPEN)
Efficacité et sécurité d'administration d'un traitement combiné de 4 ans d'hormone de croissance et d'un agoniste libérant des gonadotrophines chez des enfants de petite taille finale prédite
Antwerp University Hospital - UZA
Kindergeneeskunde/Pediatrics
BELGIE
OOST-VLAANDEREN
GENT
Essai d'extension à long terme portant sur la setmélanotide (RM-493) chez des patients ayant terminé un essai utilisant la setmélanotide dans le traitement de l'obésité liée à des défauts génétiques en amont du récepteur aux mélanocortines de type 4 (MC4R) dans la voie leptine-mélanocortine - BE
Ghent University Hospital - UZ Gent
Ghent University Hospital
NĚMECKO
Baden-Württemberg
FREIBURG
MCDS-Therapie: Eine offene Phase I/IIa-Studie zur Wiederverwendung von Carbamazepin (CBZ) für die Behandlung von Skelettdysplasien bei Kindern
Zentrum für Kinder- und Jugendmedizin Freiburg
Sektion Pädiatrische Genetik der Klinik für Allgemeine Kinder- und Jugendmedizin
NĚMECKO
Bayern
ERLANGEN
ECP-002e: Erweiterungsstudie bei XLHED betroffenen männlichen Patienten, die mit EDI200 in Protokoll ECP-002 behandelt wurden
Kinder- und Jugendklinik des Universitätsklinikums Erlangen
Abteilung für Molekulare Pädiatrie
IRSKO
County Dublin
ADDRESS: NOT PROVIDED - IE
TOPAZ - Treatment of Osteogenesis Imperfecta with Parathyroid hormone and Zoledronic acid-IE
Institution: Information not provided - IE
ITÁLIE
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Studio randomizzato di fase 2 a dosi multiple, volto a valutare la sicurezza, la tollerabilità, la farmacocinetica e l'efficacia di recifercept nei bambini con acondroplasia
Institution: Information not provided - IT
JAPONSKO
JAPAN
ADDRESS : NOT PROVIDED - JP
Pilot study of topical medicine of rapamycin for large diffuse plexiform neurofibroma of neurofibromatosis type 1
Institution: Information not provided - JP
NIZOZEMSKO
Zuid-Holland
ROTTERDAM
NF1-EXCEL: The Effect of Lamotrigine on Cognitive Deficits Associated With Neurofibromatosis Type 1: a Phase II Randomized Controlled Multi-centre Trial - NL
Erasmus MC - Erasmus Medisch Centrum
Afdeling Kinderneurologie
NIZOZEMSKO
Zuid-Holland
ROTTERDAM
NF1-EXCEL: The Effect of Lamotrigine on Cognitive Deficits Associated With Neurofibromatosis Type 1: a Phase II Randomized Controlled Multi-centre Trial - NL
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Estudio de extensión de fase III, abierto, para evaluar la seguridad y la eficacia a largo plazo de BMN 111 en pacientes pediátricos con acondroplasia -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
ACcomplisH: Estudio multicéntrico, de fase 2, a doble ciego, aleatorizado y controlado con placebo, con aumento de la dosis, para evaluar la seguridad, la eficacia y la farmacocinética de dosis subcutáneas de TransCon CNP administradas una vez por semana durante 12 meses, en niños prepúberes con acondroplasia -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
CAHtalyst: Estudio aleatorizado, doble ciego, controlado con placebo, para evaluar la seguridad y la eficacia de crinecerfont (NBI-74788) en sujetos adultos con hiperplasia adrenal congénita clásica, seguido de un tratamiento abierto -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Estudio abierto, multicéntrico para evaluar la seguridad, tolerabilidad, farmacocinética y farmacodinamia de RO7248824 en participantes con sindrome de Angelman -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Estudio en fase II con dosis múltiples y aleatorizado para evaluar la seguridad, la tolerabilidad, la farmacocinética y la eficacia de recifercept en niños con acondroplasia -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Estudio de determinación de dosis aleatorizado, doble ciego y controlado con placebo para evaluar la eficacia y la seguridad de SPR001 (Tildacerfont) en adultos con hyperplasia suprarenal congénita clásica -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Estudio aleatorizado, doble ciego y controlado con placebo para evaluar la eficacia y la seguridad de SPR001 (tildacerfont) en la reducción del uso de dosis suprafisiológicas de glucocorticoides en sujetos adultos con hiperplasia suprarrenal congénita clásica -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Estudio de fase I/II con aumento escalonado y ampliación de la dosis, multicéntrico, abierto y con un solo grupo, para evaluar la seguridad, la tolerabilidad, las características farmacocinéticas y la actividad antitumoral de FCN-159 en participantes adultos y menores de edad con neurofibromatosis de tipo 1
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
CAHtalyst Pediatric Study: Estudio aleatorizado, doble ciego y controlado con placebo para evaluar la seguridad y la eficacia de crinecerfont (NBI-74788) en sujetos pediátricos con hiperplasia suprarrenal congénita clásica, seguido de un tratamiento abierto
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
PROPEL 2: Estudio de fase II, abierto, de escalada y expansión de dosis de infigratinib, un inhibidor selectivo de la tirosina quinasa de los receptores del factor de crecimiento fibroblástico 1-3 (FGFR 1-3), en niños con acondroplasia
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
PROPEL OLE: Estudio de extensión de fase II, abierto, a largo plazo de infigratinib, un inhibidor selectivo de la tirosina quinasa de los receptores del factor de crecimiento fibroblástico 1-3 (FGFR 1-3), en niños con acondroplasia
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Estudio de fase II, aleatorizado, doble ciego,controlado con placebo y de grupos paralelos para evaluar la seguridad, la eficacia y la farmacodinámica del tratamiento con basmisanil durante 52 semanas en niños con síndrome dup15q -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Murcia
EL PALMAR
EDELIFE: Ensayo clínico prospectivo, multicéntrico, abierto, controlado por compatibilidad genotípica para investigar la eficacia y la seguridad de ER004 intraamniótico como tratamiento prenatal en sujetos varones con displasia ectodérmica hipohidrótica ligada al cromosoma X (DEHLX)
Hospital Clínico Universitario Virgen de la Arrixaca
ŠPANĚLSKO
País Vasco
VITORIA-GASTEIZ
Estudio de extensión abierto en fase II para evaluar la seguridad, tolerabilidad, farmacocinética y eficacia a largo plazo de recifercept en niños con acondroplasia
Hospital Vithas Vitoria - Hospital Vithas San José
Unidad de Cirugía Artroscópica
ŠVÉDSKO
Region Skåne
LUND
plexifpc - Treatment of NF1-related Plexiform Neurofibroma With Trametinib; a Single Arm, Open-label Trial With the Goals of Volumetric Partial Remission and Pain Relief - SE
Skånes Universitetssjukhus
Skåne University Hospital
ŠVÉDSKO
Region Stockholm
SOLNA
BOOSTB4: An Exploratory, Open Label, Multiple Dose, Multicentre Phase I/II Trial Evaluating Safety and Efficacy of Postnatal or Prenatal and Postnatal Intravenous Administration of Allogeneic Expanded Fetal Mesenchymal Stem Cells for the Treatment of Severe Osteogenesis Imperfecta Compared With a Combination of Historical and Untreated Prospective Controls - SE
Astrid Lindgrens Barnsjukhus
Astrid Lindgren Children's Hospital
SPOJENÉ KRÁLOVSTVÍ
Edinburgh
EDINBURGH
TOPAZ - Treatment of Osteogenesis Imperfecta with Parathyroid hormone and Zoledronic acid
University of Edinburgh
Edinburgh Clinical Trials Unit
SPOJENÉ KRÁLOVSTVÍ
Greater London
LONDON
A Paediatric Phase I/II Study Of Intermittent Dosing Of The Mek-1 Inhibitor Selumetinib In Children With Neurofibromatosis Type-1 And Inoperable Plexiform Neurofibroma And/Or Progressive Optic Pathway Glioma
GOSH NHS Foundatin Trust
Great Ormond Street Hospital
SPOJENÉ KRÁLOVSTVÍ
Tyne & Wear
NEWCASTLE UPON TYNE
MCDS-Therapy: An open label phase I/IIa trial repurposing carbamazepine (CBZ) for the treatment of skeletal dysplasia in children-GB
Freeman Hospital, The newcastle upon Tyne Hospitals NHS Foundation Trust
The Newcastle upon Tyne Hospitals NHS Foundation Trust
SPOJENÉ STÁTY
New Jersey
SOUTH PLAINFIELD
STAR: A Phase 2, Multicenter, Randomized, Double Masked, Placebo Controlled Study of the Safety and Efficacy of Ataluren (PTC124) for the Treatment of Nonsense Mutation Aniridia - US
PTC Therapeutics Inc.
SPOJENÉ STÁTY
Texas
DALLAS
A Phase 1 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children With Classic 21-Hydroxylase Deficiency - US
University of Texas Southwestern Medical Center
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Phase 2, Open-Label, Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of BMN 111 in Children With Achondroplasia -GB
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma
Institution: Information not provided - US
AUSTRÁLIE
Victoria
ADDRESS: NOT PROVIDED - AU
COMPASS: A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II -AU
Institution: Information not provided - AU
BELGIE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
COMPASS: Etude de phase 2/3, multicentrique, en double aveugle et randomisée pour déterminer l'efficacité et la tolérance de DNL310 versus Idursulfase chez des patients pédiatriques atteints de mucopolysaccharidose de type II neuronopathique ou non neuronopathique - BE
Cliniques universitaires Saint-Luc - UCLouvain
Cliniques Universitaires Saint-Luc
BELGIE
OOST-VLAANDEREN
GENT
Une étude ouverte, d'une durée de 1 an, incluant une période de retrait contrôlée par placebo en double aveugle, de RM-493, un agoniste de MC4R, dans l'obésité par déficit en POMC à début précoce due à une perte de fonction biallélique de POMC ou à une mutation génétique de PCSK1
Ghent University Hospital - UZ Gent
Ghent University Hospital
BELGIE
OOST-VLAANDEREN
GENT
ONYX : Étude d'extension en ouvert, multicentrique, visant à évaluer la tolérance et l'efficacité à long terme de l'apitegromab chez des patients atteints d'amyotrophie spinale de type 2 et de type 3 ayant terminé les essais expérimentaux précédents de l'apitegromab - BE
Ghent University Hospital - UZ Gent
NMRC UZ Gent
FRANCIE
AUVERGNE-RHONE-ALPES
BRON
IMPROVES: Etude de phase IIa évaluant la tolérance, la pharmacocinétique et l'efficacité de l'odiparcil chez des patients âgés de 16 ans et plus, atteints de mucopolysaccharidose (MPS) de type VI
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme
FRANCIE
AUVERGNE-RHONE-ALPES
BRON
TREATMENT OF FIBROUS DYSPLASIA OF BONE WITH TOCILIZUMAB AMONG PATIENTS WHO DO NOT RESPOND TO BISPHOSPHONATES. THE TOCIDYS TRIAL (Phase II) - FR
Hospices Civils de Lyon - Groupement Hospitalier EST
Service de rhumatologie et de pathologie osseuse
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
COMPASS : Etude de phase 2/3, multicentrique, en double aveugle et randomisée pour déterminer l'efficacité et la tolérance de DNL310 versus Idursulfase chez des patients pédiatriques atteints de mucopolysaccharidose de type II neuronopathique ou non neuronopathique -FR
Institution: Information not provided - FR
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
ONYX : Étude d'extension en ouvert, multicentrique, visant à évaluer la tolérance et l'efficacité à long terme de l'apitegromab chez les patients atteints d'amyotrophie spinale de type 2 et de type 3 ayant terminé les essais expérimentaux précédents de l'apitegromab -FR
Institution: Information not provided - FR
NĚMECKO
Baden-Württemberg
ULM
Eine offene, einjährige Studie mit einer doppelblinden, Placebo-kontrollierten Entzugsperiode von Setmelanotide (RM-493), einem Melanocortin-4-Rezeptor (MC4R)-Agonisten, bei früh einsetzender Leptin-Rezeptor (LEPR)-Mangel-Adipositas durch LEPR-Genmutation mit bi-allelischen Funktionsverlust
Zentrum für Seltene Erkrankungen am Universitätsklinikum Ulm
Zentrum für Seltene Erkrankungen (ZSE) ULM
NĚMECKO
Berlin
ADDRESS: NOT PROVIDED - DE
COMPASS: Eine multizentrische, doppelblinde, randomisierte Phase-2/3-Studie zur Ermittlung der Wirksamkeit und Sicherheit von DNL310 im Vergleich zu Idursulfase bei pädiatrischen Teilnehmern mit neuronopathischer oder nicht-neuronopathischer Mukopolysaccharidose Typ II
Institution: Information not provided - DE
NĚMECKO
Berlin
ADDRESS: NOT PROVIDED - DE
ONYX: Eine offene, multizentrische Verlängerungsstudie zur Bewertung der langfristigen Sicherheit und Wirksamkeit von Apitegromab bei Patienten mit spinaler Muskelatrophie Typ 2 und Typ 3, die frühere Studien mit Apitegromab abgeschlossen haben
Institution: Information not provided - DE
NĚMECKO
Hamburg
HAMBURG
COMPASS: Phase 2-Studie zur Sicherheit und Pharmakokinetik von Ataluren bei Patienten mit Mukopolysaccharidose Typ 1
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
NĚMECKO
Rheinland-Pfalz
MAINZ
Eine offene, multizentrische Phase IV- Langzeitstudie zur Beurteilung der Längenänderung und Gewichtsveränderung bei Patienten mit Mukopolysaccharidose Typ 2, die mit Elaprase behandelt werden und mit der Behandlung in dem Alter von <6 Jahren begonnen haben.
Universitätsmedizin Mainz
Villa Metabolica - Schwerpunktbereich angeborene Stoffwechselerkrankungen
NĚMECKO
Rheinland-Pfalz
MAINZ
IMPROVES: Eine Phase IIa-Studie zur Untersuchung der Sicherheit, Pharmakokinetik und Wirksamkeit von Odiparcil bei Patienten ab 16 Jahren mit Mukopolysaccharidose Typ 4 (MPS IV)
Universitätsmedizin Mainz
Villa Metabolica - Schwerpunktbereich angeborene Stoffwechselerkrankungen
ITÁLIE
CAMPANIA
NAPOLI
Studio sulla sicurezza, in aperto, di fase I/II, a dose scalare, in soggetti con mucopolisaccaridosi di tipo VI (MPS VI) dell'utilizzo del vettore virale 8 adeno-associato per veicolare il gene umano ARSB al fegato
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca
ITÁLIE
LAZIO
ROMA
ONYX: Studio di estensione in aperto, multicentrico per valutare la sicurezza e l'efficacia a lungo termine di Apitegromab in pazienti con atrofia muscolare spinale di tipo 2 e di tipo 3 che hanno completato precedenti studi sperimentali su Apitegromab
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Centro Clinico Nemo Pediatrico
ŠPANĚLSKO
Cataluña
ESPLUGUES DE LLOBREGAT
Estudio de fase III de JR-141 en pacientes con mucopolisacaridosis de tipo II (síndrome de Hunter) -ES
Hospital Sant Joan de Déu Barcelona
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
Estudio abierto y de dosis múltiples ascendentes para evaluar la seguridad, tolerabilidad, farmacocinética y farmacodinámica de romosozumab en niños y adolescentes con osteogénesis imperfecta -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
COMPASS: Estudio de fase 2/3, multicéntrico, doble ciego y aleatorizado para determinar la eficacia y la seguridad de DNL310 frente a idursulfasa en participantes pediátricos con mucopolisacaridosis neuronopática o no neuronopática de tipo II -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
ADDRESS: NOT PROVIDED - ES
ONYX: Ensayo abierto, multicéntrico y de extensión para evaluar la seguridad y eficacia a largo plazo de apitegromab en pacientes con atrofia muscular espinal tipo 2 y tipo 3 que completaron ensayos de investigación previos de apitegromab -ES
Institution: Information not provided - ES
ŠPANĚLSKO
Madrid
MADRID
Ensayo de ampliación a largo plazo sobre la setmelanotida (RM-493) para pacientes que han ompletado un ensayo con setmelanotida para el tratamiento de la obesidad asociada con defectos genéticos en etapa anterior del receptor MC4 en la vía leptina-melanocortina -ES
Hospital Infantil Universitario Niño Jesús
ŠPANĚLSKO
Madrid
MADRID
Estudio de extensión abierto de HGT-HIT-094 para evaluar la seguridad y el resultado clínico a largo plazo de la idursulfasa intratecal (IT) administrada junto con Elaprase® en pacientes con síndrome de Hunter y deterioro cognitivo -ES
Hospital Infantil Universitario Niño Jesús
Servicio de Neurología
ŠVÉDSKO
Region Stockholm
ADDRESS: NOT PROVIDED - SE
COMPASS: A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II - SE
Institution: Information not provided - SE
SPOJENÉ KRÁLOVSTVÍ
Greater London
ADDRESS: NOT PROVIDED - GB
COMPASS: A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II -GB
Institution: Information not provided - GB
SPOJENÉ KRÁLOVSTVÍ
Greater London
LONDON
MCRN007: An Open-label, Non-Comparative Trial to Evaluate the Safety, Efficacy and Pharmacokinetics of Faslodex (Fulvestrant) in Girls With Progressive Precocious Puberty Associated With McCune-Albright Syndrome (phase II)
University College London Hospitals, NHS Foundation Trust
Endocrinology Department
SPOJENÉ KRÁLOVSTVÍ
Oxfordshire
OXFORD
A Phase 2b Study, Multicentre, Multinational, Placebo-controlled, Double-blind, Dose-finding Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804-GB
Nuffield Orthopaedic Centre
Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences
SPOJENÉ KRÁLOVSTVÍ
West Midlands
BIRMINGHAM
MCRN174 (HGT-HIT-046) : An Open-Label Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase in Pediatric Patients with Hunter Syndrome and Cognitive Impairment (Phase I/II)
Birmingham Children's Hospital NHS Foundation Trust
Birmingham Children's Hospital
SPOJENÉ STÁTY
Maryland
BALTIMORE
Study of Growth Hormone Use in Patients With Pseudohypoparathyroidism Type 1a (Subtype of Albright Hereditary Osteodystrophy) (Phase 2/3) - US
Kennedy Krieger Institute
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Long-Term, Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects with MPS 7
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less than 5 years old
Institution: Information not provided - US
RAKOUSKO
OBERÖSTERREICH
LINZ
A Phase 1/2, Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients From Birth to Less Than 1 Year of Age With X-linked Hypophosphatemia (XLH) - AT
Kepler Universitätsklinikum - Med Campus IV.
Universitätsklinik für Kinder- und Jugendheilkunde
KANADA
Québec
MONTRÉAL
MOR-008: A Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Phase II. CA
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Medical Genetics - Génétique Médicale
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
12-months of Treatment With Burosumab in Children and Adolescents With X-linked Hypophosphatemia: a Prospective Longitudinal Cohort Study
Institution: Information not provided - FR
FRANCIE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Etude de phase I/II en ouvert, évaluant la tolérance et la sécurité de l'administration intracérébrale d'un vecteur AAV2/5, transportant le gène codant pour l'alpha-N-acétylglucosaminidase (NAGLU), chez des enfants atteints de la maladie de Sanfilippo B.
APHP. Université Paris-Saclay, Hôpital Bicêtre
Service de Neuropédiatrie
NĚMECKO
Bayern
WÜRZBURG
BurGER: An Investigator-sponsored Phase 3b Open-label Study of Anti- FGF23 Antibody Burosumab (KRN23) in Adult Patients With X linked Hypophosphatemia (XLH) in GERmany BurGER: Eine Prüfarzt-initiierte offene Phase-3b-Studie des Anti-FGF23-Antikörpers Burosumab (KRN23) bei erwachsenen Patienten mit X-chromosomaler Hypophosphatämie (XLH) in Deutschland
Lehrstuhl für Orthopädie der Universität Würzburg
Bernhard-Heine-Centrum für Bewegungsforschung
NĚMECKO
Hamburg
HAMBURG
Eine offene Phase 1/2-Dosiseskalationsstudie zur Untersuchung der Sicherheit, Verträglichkeit, Pharmakokinetik und Wirksamkeit von intra-cerebro-ventrikulärem BMN 250 bei Patienten mit Mukopolysaccharidose Typ 3B (Sanfilippo-Krankheit Typ B)
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
NĚMECKO
Hamburg
HAMBURG
Eine offene Verlängerung der HGT-SAN-093-Studie zur Untersuchung der Sicherheit und Wirksamkeit von intrathekalem HGT-1410 (Recombinant Human Heparan N Sulfatase) bei pädiatrischen Patienten mit Mukopolysaccharidose Typ 3A (Phase II)
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
NĚMECKO
Hamburg
HAMBURG
Eine offene, nicht kontrollierte, parallele, aufsteigende, multizentrische Mehrdosisstudie zur Beurteilung der Sicherheit, Verträglichkeit, Pharmakokinetik und Pharmakodynamik von SOBI003 bei pädiatrischen MPS IIIA-Patienten
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
NĚMECKO
Hamburg
HAMBURG
AAVance: Eine offene, einarmige, multizentrische Studie zur intrazerebralen Verabreichung von Adeno-assoziierten Virusvektoren Serotyp rh10 mit der humanen N-Sulfoglucosaminsulfohydrolase (SGSH) cDNA zur Behandlung von Mukopolysaccharidose Typ IIIA
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
NĚMECKO
Hamburg
HAMBURG
Offene multizentrische Erweiterungsstudie zur weiteren Bewertung der Sicherheit, Verträglichkeit und Wirksamkeit der intrazerebroventrikulären AX 250-Behandlung bei Patienten mit Mukopolysaccharidose Typ IIIB (MPS IIIB, Sanfilippo-Syndrom Typ B)
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
IRSKO
County Dublin
ADDRESS: NOT PROVIDED - IE
A Phase 3b Open-label Study of the Anti-FGF23 Antibody, Burosumab (KRN23) in Adult Patients with X-linked Hypophosphatemia (XLH)-IE
Institution: Information not provided - IE
NIZOZEMSKO
Noord-Holland
AMSTERDAM
Een open-label vervolg onderzoek van HGT-SAN-055 om de lange termijn veiligheid en klinische uitkomst te evaluaeren van intrathecaal toegediend, recombinant geproduceerd menselijk Heparan N-Sulfatase (rHNS) bij patienten met het Sanfilippo syndroom type A (MPS III A) (Fase I-II) - NL
Amsterdam UMC, locatie AMC
Polikliniek Kindermetabole Ziekten
NIZOZEMSKO
Noord-Holland
AMSTERDAM
Een open-label verlenging van onderzoek HGT-SAN-093 ter evaluatie van de veiligheid en werkzaamheid van toediening van HGT-1410 (recombinant humaan heparan N-sulfatase) via een intrathecaal hulpmiddel voor geneesmiddeltoediening bij pediatrische patienten met mucopolysaccharidose type III A (Fase II) - NL
Amsterdam UMC, locatie AMC
Polikliniek Kindermetabole Ziekten
ŠPANĚLSKO
Andalucía
SEVILLA
Estudio en fase I/II, sin aleatorización ni enmascaramiento, multicéntrico, para evaluar la seguridad, la tolerabilidad, la farmacocinética y la eficacia del burosumab en niños/as (desde el nacimiento hasta menos de 1 año de edad) con hipofosfatemia ligada al cromosoma X (HLX)
Hospital Universitario Virgen del Rocío
Unidad de Nefrología Pediátrica
ŠPANĚLSKO
Cataluña
ESPLUGUES DE LLOBREGAT
Estudio de fase I/II para evaluar la seguridad, tolerabilidad y eficacia inicial del vector viral adenoasociado de serotipo 9 conteniendo el gen de la sulfamidasa humana tras su administración por vía intracerebroventricular a pacientes con MPSIIIA
Hospital Sant Joan de Déu Barcelona
Servicio de Neurología
ŠPANĚLSKO
Galicia
SANTIAGO DE COMPOSTELA
Estudio de seguimiento a largo plazo de pacientes con MPS IIIA procedentes de ensayos clínicos de terapia génica que incluyen la administración de ABO-102 (scAAV9.U1a.hSGSH) - ES
Complejo Hospitalario Universitario de Santiago
ŠPANĚLSKO
Galicia
SANTIAGO DE COMPOSTELA
Ensayo clínico de terapia génica fase I/II con scAAV9.U1a.SGSH para la Mucopolisacaridosis tipo IIIA -ES
Complejo Hospitalario Universitario de Santiago
Servicio de Pediatría
SPOJENÉ KRÁLOVSTVÍ
Greater Manchester
ADDRESS: NOT PROVIDED - UK
AAVance: An Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA-GB
Institution: Information not provided - UK
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study With Open-Label Extension to Assess the Efficacy and Safety of KRN23 in Adults With X-linked Hypophosphatemia (XLH)
Institution: Information not provided - US
Nadnárodní klinické studie
IRSKO
County Dublin
ADDRESS: NOT PROVIDED - IE
CUV152: A Proof of Concept, Phase IIa, Open Label Study to Evaluate the Safety and Efficacy of Subcutaneous Implants of Afamelanotide in Patients With Xeroderma Pigmentosum C and V (XPC and XPV).
Institution: Information not provided - IE
ITÁLIE
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
OLE-IEDAT: Open-label, Long-term, Extension Treatment using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients with Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study
Institution: Information not provided - IT
JAPONSKO
JAPAN
ADDRESS : NOT PROVIDED - JP
A confirmatory clinical study to evaluate efficacy and safety of ISN001 in patients with epidermolysis bullosa
Institution: Information not provided - JP
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
A randomized, double-blinded, regimen controlled, phase II, multicenter study to assess the efficacy and safety of two different Vismodegib regimens in patients with multiple Basal Cell Carcinoma
Institution: Information not provided - CH
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A multinational, multi-center, open-label, rater-blinded Phase II study - IB1001-203
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
EPIK-P2: A Phase II Double-blind Study With an Upfront, 16-week Randomized, Placebo-controlled Period, to Assess the Efficacy, Safety and Pharmacokinetics of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Phase 2, 12-Week, Randomized, Double-Blind, Placebo-Controlled Study of DS-1211b in Individuals With PseudoXanthoma Elasticum.
Institution: Information not provided - US
KANADA
Québec
ADDRESS: NOT PROVIDED - CA
MOVE Trial: A Phase 3, Efficacy and Safety Study of Oral Palovarotene for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP)
Institution: Information not provided - CA
FRANCIE
ILE-DE-FRANCE
PARIS
GENEGRAFT: Phase I/II ex vivo gene therapy clinical trial for recessive dystrophic epidermolysis bullosa using skin equivalent grafts genetically corrected with a COL7A1-encoding SIN retroviral vector (Orphan drug designation (EU/3/09/630))
Hôpital Necker-Enfants Malades
Service de dermatologie
NĚMECKO
Baden-Württemberg
FREIBURG
REFLECT: A dual-center prospective phase I/II trial to establish safety, tolerability and to obtain first data on efficacy of losartan in children with recessive dystrophic epidermolysis bullosa (RDEB)
Universitätsklinikum Freiburg
MAĎARSKO
Dél-Dunántúl
ADDRESS: NOT PROVIDED - HU
A Randomized, Double-blind, Placebo-controlled, Multi-center, 2-part, Phase 2 Study to Evaluate Efficacy, Safety, and Tolerability of RGH-706 in Prader-Willi Syndrome.
Institution: Information not provided - HU
NIZOZEMSKO
Utrecht
ADDRESS: NOT PROVIDED - NL
STOPFOP: Saracatinib Trial TO Prevent FOP
Institution: Information not provided - NL
NIZOZEMSKO
Utrecht
ADDRESS: NOT PROVIDED - NL
Global Growth Hormone Study in Adults With Prader-Willi Syndroom
Institution: Information not provided - NL
ŠVÉDSKO
Region Stockholm
ADDRESS: NOT PROVIDED - SE
A Phase III, Randomised, Double Blind, Placebo Controlled, Multicentre Study of Olaparib Maintenance Monotherapy in Patients with BRCA Mutated Advanced (FIGO Stage III-IV) Ovarian Cancer following First Line Platinum Based Chemotherapy
Institution: Information not provided - SE
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
Sequential, Two-period Study to Assess the Pharmacokinetics, Safety & Tolerability of Single and Multiple Oral Doses of AFQ056 in Patients With FXS (Fragile X Syndrome) Aged 5-11 Years (Cohort 1) and 3-4 Years (Cohort 2) (Phase I) (Coordination)
Institution: Information not provided - CH
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
An Open-label Study to Evaluate the Long-term Safety and Tolerability of AFQ056 in Adolescent Patients With Fragile X Syndrome (Phase II-III) (Coordination)
Institution: Information not provided - CH
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of AFQ056 in Adolescent Patients With Fragile X Syndrome (Phase II-III) (Coordination)
Institution: Information not provided - CH
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
An Open-label Study to Evaluate the Long-term Safety, Tolerability and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome (Phase II) (Coordination)
Institution: Information not provided - CH
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate AFQ056 in Adult Patients With Fragile X Syndrome (Phase II) (Coordination)
Institution: Information not provided - CH
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
A Randomized, Double-blind, 12-week, Parallel Group, Placebo-controlled Study of Efficacy and Safety of RO4917523 in Patients With Fragile X Syndrome (Phase II) (Coordination)
Institution: Information not provided - CH
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
EPIK-P3: A phase II study to evaluate the long-term safety and efficacy of alpelisib in patients with PIK3CA-Related Overgrowth Spectrum (PROS) who previously participated in Study CBYL719F12002 (EPIK-P1)
Institution: Information not provided - CH
SPOJENÉ KRÁLOVSTVÍ
Greater London
LONDON
ZEPHYR: A Phase 2b/3 Study to Evaluate the Safety, Tolerability, and Effects of Livoletide (AZP-531), an Unacylated Ghrelin Analog, on Food-related Behaviors in Patients With Prader-Willi Syndrome
Millendo Therapeutics Ltd
SPOJENÉ STÁTY
California
FOSTER CITY
MERGE - MRX-800: A Long-Term Safety Study of Maralixibat, an Apical Sodium Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Subjects Who Previously Participated in a Maralixibat Study
Mirum Pharmaceuticals, Inc.
SPOJENÉ STÁTY
North Carolina
DURHAM
SPOJENÉ STÁTY
Texas
HOUSTON
Follow-up of Phase 1/2 Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR α β+T Cells in Pediatric Patients Affected by Hematological Disorders
Bellicum Pharmaceuticals, Inc.
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Phase 2, Open-label, Multicentre, Extension Safety and Tolerability Study for Transfusionally Iron Overloaded Children, Adolescents and Adults Using SSP-004184 (SPD602)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
An Open Label, Multi-center, Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients with Epidermolysis Bullosa (Phase III)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
RISE: Open-Label, Phase 2 Study to Evaluate the Safety and Tolerability of Maralixibat in the Treatment of Infants with Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis and Alagille Syndrome. - Maralixibat Infant Safety Evaluation.
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Phase III Clinical Trial for the Treatment of Myeloid Leukemia in Children with Down Syndrome 2018 - ML-DS 2018
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
An Open-Label, Multicenter Study To Investigate The Safety, Tolerability, Pharmacokinetics And Pharmacodynamics Of RO7248824 In Participants With Angelman Syndrome
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) With a Crossover to Open-Label Once Weekly Setmelanotide in Patients With Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation.
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
PREVEnt: A multicenter, randomized, double-blind, placebo-controlled study of enzastaurin for the prevention of arterial events in patients with vascular Ehlers-Danlos Syndrome (vEDS) confirmed with COL3A1 mutations, followed by an open label extension (OLE).
Institution: Information not provided - US
AUSTRÁLIE
Victoria
ADDRESS: NOT PROVIDED - AU
A phase II study of trametinib in paediatric, adolescent and young adult patients with neurofibromatosis type 1 associated plexiform neurofibromas or progressive optic pathway gliomas
Institution: Information not provided - AU
KANADA
Québec
ADDRESS: NOT PROVIDED - CA
TAM4MTM: A Phase 1/2 Randomized, Placebo-Controlled, Double-Blinded, Single Crossover Study to Determine the Safety and Efficacy of Tamoxifen Therapy for Myotubular Myopathy (XLMTM)
Institution: Information not provided - CA
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
NF1-EXCEL: The Effect of Lamotrigine on Cognitive Deficits Associated With Neurofibromatosis Type 1: a Phase II Randomized Controlled Multi-centre Trial
Institution: Information not provided - FR
ŠVÉDSKO
Region Stockholm
ADDRESS: NOT PROVIDED - SE
BOOSTB4: An exploratory, open label, multiple dose, multicentre phase I/II trial evaluating safety and efficacy of postnatal or prenatal and postnatal intravenous administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe Osteogenesis Imperfecta compared with a combination of historical and untreated prospective controls.
Institution: Information not provided - SE
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
A randomized, open label intra-patient dose escalation study with an untreated reference group to evaluate safety and tolerability, pharmacokinetics, and pharmacodynamics of multiple infusions of BPS804 in adults with moderate osteogenesis imperfecta
Institution: Information not provided - CH
SPOJENÉ KRÁLOVSTVÍ
Greater London
ADDRESS: NOT PROVIDED - GB
A Phase III study of efficacy, safety and tolerability of Chronocort® compared with standard glucocorticoid replacement therapy in the treatment of congenital adrenal hyperplasia.
Institution: Information not provided - GB
SPOJENÉ KRÁLOVSTVÍ
Greater Manchester
RADCLIFFE
SPOJENÉ KRÁLOVSTVÍ
Tyne & Wear
NEWCASTLE UPON TYNE
MCDS-Therapy: An open label phase I/IIa trial repurposing carbamazepine (CBZ) for the treatment of skeletal dysplasia in children
Newcastle University
Institute of Genetic Medicine
SPOJENÉ STÁTY
Massachusetts
CAMBRIDGE
ECP-002: A Phase 2 Open-label, Dose-escalation Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics/Efficacy of EDI200, an EDA-A1 Replacement Protein, Administered to Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
Edimer Pharmaceuticals Inc.
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
An open-label, multicenter, multinational study of the safety, efficacy and pharmacokinetics of ENB-0040 (asfotase alfa : human recombinant tissue nonspecific alkaline phosphatase fusion protein) in infants and children under 5 years of age with hypophosphatasia (HPP) (Phase II/III)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Phase 2, Open-label, Sequential Cohort Dose-escalation Study of BMN 111 in Children With Achondroplasia
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Phase 2, Open-Label, Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of BMN 111 in Children With Achondroplasia
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A phase 2 multiple dose, randomized study to assess the safety, tolerability, pharmacokinetics and efficacy of recifercept in children with achondroplasia.
Institution: Information not provided - US
RAKOUSKO
WIEN
ADDRESS: NOT PROVIDED - AT
Prospective, open-label, single-arm, multicentre Phase 3 study to evaluate the pharmacokinetics, efficacy, tolerability, and safety of subcutaneous human immunoglobulin (Newnorm) in patients with primary immunodeficiency diseases
Institution: Information not provided - AT
ITÁLIE
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
A Phase I/II Open Label, Dose Escalation, Safety Study in Subjects with Mucopolysaccharidosis type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the human ARSB gene to Liver.
Institution: Information not provided - IT
ŠVÝCARSKO
Suisse Romande
ADDRESS: NOT PROVIDED - CH
A Phase 2b Study, Multicentre, Multinational, Placebo-controlled, Double-blind, Dose-finding Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804
Institution: Information not provided - CH
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Controlled, Randomized, Two-arm, Open-label, Assessor-blinded, Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction with Elaprase® in Pediatric Patients with Hunter Syndrome and Early Cognitive Impairment (Phase II-III)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Iduronate 2-Sulfatase (IDS) Fusion Protein, AGT-182 in Adult Patients With Mucopolysaccharidosis II (MPS II, Hunter Syndrome)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
An Open Label, 1-Year Trial, Including a Double-Blind Placebo-Controlled Withdrawal Period, of Setmelanotide (RM-493), a Melanocortin 4 Receptor (MC4R) Agonist, in Early Onset Leptin Receptor (LEPR) Deficiency Obesity Due to Bi-Allelic Loss-of-Function LEPR Genetic Mutation
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
COMPASS: A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II.
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
ONYX: An Open-Label, Multicenter, Extension Trial to Evaluate the Long-Term Safety and Efficacy of Apitegromab in Patients With Type 2 and Type 3 Spinal Muscular Atrophy Who Completed Previous Investigational Trials of Apitegromab.
Institution: Information not provided - US
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
AAVance: An Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA.
Institution: Information not provided - FR
ŠVÉDSKO
Region Stockholm
ADDRESS: NOT PROVIDED - SE
An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients
Institution: Information not provided - SE
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Phase III, Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in patients with Mucopolysaccharidosis type 4A (Morquio disease type A)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) (Phase I-II)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A phase 2, open-label, multinational clinical study to evaluate the safety and efficacy of BMN 110 in pediatric patients less than 5 years of age with mucoplysaccaridosis IVA (Morquio A syndrome)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) (MOR-008)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
MOR-006: A Phase 2, Open-label, Multinational Study to Evaluate the Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited Ambulation
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Mucopolysaccharidosis Type IIIA Disease (Phase II)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
An Open-Label, Single-Arm, Phase 3 Study to Evaluate the Effects of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
A Randomized, Open-Label, Dose Finding, Phase 2 Study to Assess the Pharmacodynamics and Safety of the Anti-FGF23 Antibody, KRN23, in Pediatric Patients With X-linked Hypophosphatemia (XLH)
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US