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A Phase 2 Study of TAS-117 in Patients With Advanced Solid Tumors Harboring Germline PTEN Inactivating Mutations - AT Institution: Information not provided - AT

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) - BE Institution: Information not provided - BE

RecSAMP: Metabotyping of Overweight and Obese Children Towards Early Detection of Insulin Resistance and Low-grade Inflammation by Means of a Rectal Sampler Universitair Ziekenhuis Brussel Endocrinologie

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 - BE UZ Leuven - Campus Gasthuisberg Laboratory of Pediatric Immunology

BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant Service de génétique

PROPLACO-Tel: Prospective Study of Antiplatelet and Anticoagulation Therapy in Hereditary Haemorrhagic Telangiectasia -FR CHU de Clermont-Ferrand - Hôpital Gabriel Montpied CHU Clermont Ferrand

PROPHECI: PyROphosPHate Supplementation to Fight ECtopIc Calcification in PseudoXanthoma Elasticum -FR Institution: Information not provided - FR

Fluconazole as a New Therapeutic Tool in Hypercalciuric Patients With Increased 1,25(OH)2D Levels Institution: Information not provided - FR

SIPA-SOS: An open label phase II study of Sirolismus in patients with segmental overgrowth syndrome Zentrum für Kinder- und Jugendmedizin Freiburg Klinik für Pädiatrische Hämatologie und Onkologie

DOAC-Child: Pharmacokinetics of a microdosed cocktail containing rivaroxaban, apixaban and edoxaban in children with congenital heart defects Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg Kinderheilkunde II - Klinik für Kinderkardiologie und angeborene Herzfehler

Der Einfluss von Timolol Nasenspray auf Epistaxis bei Morbus Osler Patienten Universitätsklinikum Regensburg Klinik und Poliklinik für Hals-Nasen-Ohren-Heilkunde

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 -DE- Institution: Information not provided - DE

CUV156: 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 (XP) Institution: Information not provided - DE

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 -DE- Universitätsklinikum Frankfurt Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

EyNeP: Intravitreal Aflibercept (Eylea®) for therapy of choroidal neovascularization and fibrovascular proliferation in patients with Pseudoxanthoma elasticum (Phase II) - DE Universitäts-Augenklinik Bonn

Effect of losartan vs. nebivolol vs. the association of both on the progression of aortic root dilatation in patients with Marfan syndrome mutation carriers of the gene FBN1 Fondazione IRCCS Policlinico San Matteo Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti

Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) (Phase II)- IT Fondazione IRCCS Policlinico San Matteo Clinica Medica III

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

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

Response to oral lansoprazole in inorganic pyrophosphate levels in patients with Grönblad-Stranberg disease (Pseudoxanthoma Elasticum) -ES Hospital Universitario Virgen de la Victoria Unidad de Medicina Interna

A Randomised, Placebo Controlled, Double Blind, Multicentre Proof of Concept Study to Assess the Safety and Efficacy of Two Doses of VAD044 in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) -ES Hospital Universitari de Bellvitge Servicio de Medicina Interna

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) -ES Institution: Information not provided - ES

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 - ES Hospital Universitario La Paz Servicio de Neurología

Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A multinational, multicenter, open-label, rater-blinded Phase II study -ES Hospital Universitario La Paz Servicio de Neurología infantil

LSCI-NSURG: Intraoperative Laser Speckle Contrast Imaging to Assess Blood Flow During Neurosurgery Universitätsspital Inselspital Universitätsklinik für Neurochirurgie

A Randomized Double-Blind Controlled Trial of Everolimus in Children and Adolescents With PTEN Mutations (RAD001XUS257T) Institution: Information not provided - US

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

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

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

Phase III Clinical Trial for CPX-351 in Myeloid Leukemia in Children with Down Syndrome 2018 - AT Institution: Information not provided - AT

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 - BE Institution: Information not provided - BE

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

Immunodeficiency in cartilage-hair hypoplasia: sub-project on safety of vaccination against chickenpox -FI HUS - Helsinki University Hospital New Children's Hospital

VETCOSED: Effectiveness of Wearing a Compression Garment (SED CICATREX® Model) for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Centre Médico-Chirurgical de Réadaptation des Massues - Croix-Rouge française Médecine physique et réadaptation Adultes

NOVASED: Efficiency Clinical Study of NOVATEX MEDICAL Compression Garments in Patients With Ehlers-Danlos Syndrome. CHU de Nancy - Hôpitaux de Brabois Service de médecine interne et immunologie clinique

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

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) - FR Institution: Information not provided - FR

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 -FR Institution: Information not provided - FR

ARCADE: Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial (Phase III) - FR AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou Service de génétique - CR des Maladies Vasculaires Rares

MABUL : A Comparative Study of the Healing of Chronic Skin Ulcers of Recessive Dystrophic Epidermolysis Bullosa : Standard Dressing Versus Amniotic Membrane (Phase III) GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis Service de dermatologie

FancoMob : Pilot Study Assessing the Feasibility of CD34+ Cells Mobilization and Collection After Treatment With G-CSF and Plerixafor in Patients With Fanconi Anemia for Subsequent Treatment by Gene Therapy (Phase I-II) Hôpital Necker-Enfants Malades Service d'Hématologie adulte

A Phase 2, Open-Label Extension, Efficacy and Safety Study of a RARy Specific Agonist (Palovarotene) in the Treatment of Preosseous Flare-ups in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) - FR Hôpital Necker-Enfants Malades Service de Génétique Moléculaire

A Phase 2, Open-Label, Efficacy and Safety Study of an RARy Specific Agonist (Palovarotene) to Prevent Heterotopic Ossification in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) Hôpital Necker-Enfants Malades Service de Génétique Moléculaire

ACTHYF: Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children - FR Institut Jérôme Lejeune

OXYJEUNE : Effects of Intranasal Administrations of Oxytocin on Behavioural Troubles, Hyperphagia and Social Skills in Children With Prader-Willi Syndrome Aged From 3 to 12 Years (Phase III) CHU de Toulouse - Hôpital des Enfants Centre de référence du syndrome de Prader-Willi

STOPFOP: Saracatinib Trial TO Prevent FOP. A 6-month double blind randomized controlled trial of AZD0530 versus placebo, followed by a 12 month open label extension phase -DE Klinikum Garmisch-Partenkirchen GmbH Abteilung für Kinder- & Jugendmedizin

SynCoRAS: Improvement of Synaptic Plasticity and Cognitive Function in RAS Pathway Disorders (GeNeRARe study) TUM Fakultät für Medizin

SynCoRAS: Improvement of Synaptic Plasticity and Cognitive Function in RAS Pathway Disorders (GeNeRARe study) kbo-Kinderzentrum München gemeinnützige GmbH kbo-Kinderzentrum München

MOVE TRIAL: A Phase 3, Efficacy and Safety Study of Oral Palovarotene for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP) -DE- Institution: Information not provided - DE

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

Open-label study to evaluate the efficacy and tolerability of orally administered rosiglitazone in patients with progressive bone Fibrodysplasia (FOP) Institution: Information not provided - IT

Follow-up of phase I/II study of CaspaCide T cells from an HLA-partially matched family donor after negative selection of TCR alfa-beta+ T cells in pediatric patients affected by hematological disorders - IT Institution: Information not provided - IT

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 - IT Institution: Information not provided - IT

A Phase 2, Open-label, Multicentre, Extension Safety and Tolerability Study for Transfusionally Iron Overloaded Children, Adolescents and Adults Using SSP-004184 (SPD602) - IT Ospedali Galliera S.S.D. Microcitemia, anemie congenite e dismetabolismo del ferro

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) - IT IRCCS Ca' Granda Ospedale Maggiore Policlinico - Padiglione De Marchi U.O.S. di Infettivologia Pediatrica

Randomized, Placebo-controlled, Cross-over, Double-blind Study of a Metabolic Support Therapy With Q10 Ubiquinol and a Multivitamin B and E Complex in Two Cohorts of Patients With Idiopathic and Syndromic Autism (Phelan-McDermid Syndrome) Università degli Studi di Messina

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

Unrelated cord blood transplantation after reduced toxicity conditioning with mesenchymal stromal cell co-infusion in patients with severe epidermolysis bullosa (phase II) UMC Utrecht - Universitair Medisch Centrum Utrecht Polikliniek Immunologie

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

N- acetylcysteine treatment for skin picking in children and young adults with PWS: a randomized, controlled, cross-over trial Stichting Kind en Groei

SOLO-1: 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 -ES Institution: Information not provided - ES

FANCOLEN-II: A Phase II Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced with a Lentiviral Vector Carrying the FANCA Gene (Orphan Drug) in Patients with Fanconi Anemia Subtype A -ES Institution: Information not provided - ES

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) - ES Institution: Information not provided - ES

Long-Term Follow-up: Phase I/II clinical study to evaluate the safety and efficacy of the infusion of autologous CD34+ cells transduced with a lentiviral vector carrying the FANCA gene (orphan drug) in patients with Fanconi Anaemia Subtype A - ES Institution: Information not provided - ES

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 -ES Institution: Information not provided - ES

Progress: A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy, Safety, and Tolerability of INCB000928 in Participants With Fibrodysplasia Ossificans Progressiva -ES Institution: Information not provided - ES

A Phase 3 Multi-Center, One-Year, Open-Label study of Setmelanotide in Pediatric Patients Aged 2 to <6 years of age with Rare Genetic Causes of Obesity -ES Hospital Infantil Universitario Niño Jesús Servicio de Endocrinología, Crecimiento y Metabolismo

An open clinical trial, phase II to evaluate the efficacy and safety of the use of eltrombopag in children and adolescents with Fanconi Anemia -ES Hospital Infantil Universitario Niño Jesús Servicio de Hematología y Hemoterapia

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 - ES Hospital Universitario La Paz

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

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

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

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

Effects of exenatide on appetite and ghrelin levels in patients with Prader-Willi Syndrome Fazakerley Hospital University Hospital Aintree - Diabetes and Endocrinology

Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity University Hospital Birmingham Marshfield Clinic

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). - SE Aytu BioPharma, Inc.

A Phase 2 Study of TAS-117 in Patients With Advanced Solid Tumors Harboring Germline PTEN Inactivating Mutations - AT
Institution: Information not provided - AT

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) - BE
Institution: Information not provided - BE

RecSAMP: Metabotyping of Overweight and Obese Children Towards Early Detection of Insulin Resistance and Low-grade Inflammation by Means of a Rectal Sampler
Universitair Ziekenhuis Brussel

Endocrinologie

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 - BE
UZ Leuven - Campus Gasthuisberg

Laboratory of Pediatric Immunology

BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant

Service de génétique

PROPLACO-Tel: Prospective Study of Antiplatelet and Anticoagulation Therapy in Hereditary Haemorrhagic Telangiectasia -FR
CHU de Clermont-Ferrand - Hôpital Gabriel Montpied

CHU Clermont Ferrand

PROPHECI: PyROphosPHate Supplementation to Fight ECtopIc Calcification in PseudoXanthoma Elasticum -FR
Institution: Information not provided - FR

Fluconazole as a New Therapeutic Tool in Hypercalciuric Patients With Increased 1,25(OH)2D Levels
Institution: Information not provided - FR

SIPA-SOS: An open label phase II study of Sirolismus in patients with segmental overgrowth syndrome
Zentrum für Kinder- und Jugendmedizin Freiburg

Klinik für Pädiatrische Hämatologie und Onkologie

DOAC-Child: Pharmacokinetics of a microdosed cocktail containing rivaroxaban, apixaban and edoxaban in children with congenital heart defects
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg

Kinderheilkunde II - Klinik für Kinderkardiologie und angeborene Herzfehler

Der Einfluss von Timolol Nasenspray auf Epistaxis bei Morbus Osler Patienten
Universitätsklinikum Regensburg

Klinik und Poliklinik für Hals-Nasen-Ohren-Heilkunde

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 -DE-
Institution: Information not provided - DE

CUV156: 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 (XP)
Institution: Information not provided - DE

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 -DE-
Universitätsklinikum Frankfurt

Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

EyNeP: Intravitreal Aflibercept (Eylea®) for therapy of choroidal neovascularization and fibrovascular proliferation in patients with Pseudoxanthoma elasticum (Phase II) - DE
Universitäts-Augenklinik Bonn

Effect of losartan vs. nebivolol vs. the association of both on the progression of aortic root dilatation in patients with Marfan syndrome mutation carriers of the gene FBN1
Fondazione IRCCS Policlinico San Matteo

Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti

Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) (Phase II)- IT
Fondazione IRCCS Policlinico San Matteo

Clinica Medica III

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

Response to oral lansoprazole in inorganic pyrophosphate levels in patients with Grönblad-Stranberg disease (Pseudoxanthoma Elasticum) -ES
Hospital Universitario Virgen de la Victoria

Unidad de Medicina Interna

A Randomised, Placebo Controlled, Double Blind, Multicentre Proof of Concept Study to Assess the Safety and Efficacy of Two Doses of VAD044 in Patients With Hereditary Hemorrhagic Telangiectasia (HHT) -ES
Hospital Universitari de Bellvitge

Servicio de Medicina Interna

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) -ES
Institution: Information not provided - ES

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 - ES
Hospital Universitario La Paz

Servicio de Neurología

Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A multinational, multicenter, open-label, rater-blinded Phase II study -ES
Hospital Universitario La Paz

Servicio de Neurología infantil

LSCI-NSURG: Intraoperative Laser Speckle Contrast Imaging to Assess Blood Flow During Neurosurgery
Universitätsspital Inselspital

Universitätsklinik für Neurochirurgie

A Randomized Double-Blind Controlled Trial of Everolimus in Children and Adolescents With PTEN Mutations (RAD001XUS257T)
Institution: Information not provided - US

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

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

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

Phase III Clinical Trial for CPX-351 in Myeloid Leukemia in Children with Down Syndrome 2018 - AT
Institution: Information not provided - AT

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 - BE
Institution: Information not provided - BE

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

Immunodeficiency in cartilage-hair hypoplasia: sub-project on safety of vaccination against chickenpox -FI
HUS - Helsinki University Hospital

New Children's Hospital

VETCOSED: Effectiveness of Wearing a Compression Garment (SED CICATREX® Model) for Patients With Hypermobility Type of Ehlers-Danlos Syndrome
Centre Médico-Chirurgical de Réadaptation des Massues - Croix-Rouge française

Médecine physique et réadaptation Adultes

NOVASED: Efficiency Clinical Study of NOVATEX MEDICAL Compression Garments in Patients With Ehlers-Danlos Syndrome.
CHU de Nancy - Hôpitaux de Brabois

Service de médecine interne et immunologie clinique

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

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) - FR
Institution: Information not provided - FR

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 -FR
Institution: Information not provided - FR

ARCADE: Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial (Phase III) - FR
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou

Service de génétique - CR des Maladies Vasculaires Rares

MABUL : A Comparative Study of the Healing of Chronic Skin Ulcers of Recessive Dystrophic Epidermolysis Bullosa : Standard Dressing Versus Amniotic Membrane (Phase III)
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis

Service de dermatologie

FancoMob : Pilot Study Assessing the Feasibility of CD34+ Cells Mobilization and Collection After Treatment With G-CSF and Plerixafor in Patients With Fanconi Anemia for Subsequent Treatment by Gene Therapy (Phase I-II)
Hôpital Necker-Enfants Malades

Service d'Hématologie adulte

A Phase 2, Open-Label Extension, Efficacy and Safety Study of a RARy Specific Agonist (Palovarotene) in the Treatment of Preosseous Flare-ups in Subjects With Fibrodysplasia Ossificans Progressiva (FOP) - FR
Hôpital Necker-Enfants Malades

Service de Génétique Moléculaire

A Phase 2, Open-Label, Efficacy and Safety Study of an RARy Specific Agonist (Palovarotene) to Prevent Heterotopic Ossification in Subjects With Fibrodysplasia Ossificans Progressiva (FOP)
Hôpital Necker-Enfants Malades

Service de Génétique Moléculaire

ACTHYF: Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children - FR
Institut Jérôme Lejeune

OXYJEUNE : Effects of Intranasal Administrations of Oxytocin on Behavioural Troubles, Hyperphagia and Social Skills in Children With Prader-Willi Syndrome Aged From 3 to 12 Years (Phase III)
CHU de Toulouse - Hôpital des Enfants

Centre de référence du syndrome de Prader-Willi

STOPFOP: Saracatinib Trial TO Prevent FOP. A 6-month double blind randomized controlled trial of AZD0530 versus placebo, followed by a 12 month open label extension phase -DE
Klinikum Garmisch-Partenkirchen GmbH

Abteilung für Kinder- & Jugendmedizin

SynCoRAS: Improvement of Synaptic Plasticity and Cognitive Function in RAS Pathway Disorders (GeNeRARe study)
TUM Fakultät für Medizin

SynCoRAS: Improvement of Synaptic Plasticity and Cognitive Function in RAS Pathway Disorders (GeNeRARe study)
kbo-Kinderzentrum München gemeinnützige GmbH

kbo-Kinderzentrum München

MOVE TRIAL: A Phase 3, Efficacy and Safety Study of Oral Palovarotene for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP) -DE-
Institution: Information not provided - DE

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

Open-label study to evaluate the efficacy and tolerability of orally administered rosiglitazone in patients with progressive bone Fibrodysplasia (FOP)
Institution: Information not provided - IT

Follow-up of phase I/II study of CaspaCide T cells from an HLA-partially matched family donor after negative selection of TCR alfa-beta+ T cells in pediatric patients affected by hematological disorders - IT
Institution: Information not provided - IT

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 - IT
Institution: Information not provided - IT

A Phase 2, Open-label, Multicentre, Extension Safety and Tolerability Study for Transfusionally Iron Overloaded Children, Adolescents and Adults Using SSP-004184 (SPD602) - IT
Ospedali Galliera

S.S.D. Microcitemia, anemie congenite e dismetabolismo del ferro

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) - IT
IRCCS Ca' Granda Ospedale Maggiore Policlinico - Padiglione De Marchi

U.O.S. di Infettivologia Pediatrica

Randomized, Placebo-controlled, Cross-over, Double-blind Study of a Metabolic Support Therapy With Q10 Ubiquinol and a Multivitamin B and E Complex in Two Cohorts of Patients With Idiopathic and Syndromic Autism (Phelan-McDermid Syndrome)
Università degli Studi di Messina

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

Unrelated cord blood transplantation after reduced toxicity conditioning with mesenchymal stromal cell co-infusion in patients with severe epidermolysis bullosa (phase II)
UMC Utrecht - Universitair Medisch Centrum Utrecht

Polikliniek Immunologie

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

N- acetylcysteine treatment for skin picking in children and young adults with PWS: a randomized, controlled, cross-over trial
Stichting Kind en Groei

SOLO-1: 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 -ES
Institution: Information not provided - ES

FANCOLEN-II: A Phase II Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced with a Lentiviral Vector Carrying the FANCA Gene (Orphan Drug) in Patients with Fanconi Anemia Subtype A -ES
Institution: Information not provided - ES

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) - ES
Institution: Information not provided - ES

Long-Term Follow-up: Phase I/II clinical study to evaluate the safety and efficacy of the infusion of autologous CD34+ cells transduced with a lentiviral vector carrying the FANCA gene (orphan drug) in patients with Fanconi Anaemia Subtype A - ES
Institution: Information not provided - ES

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 -ES
Institution: Information not provided - ES

Progress: A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy, Safety, and Tolerability of INCB000928 in Participants With Fibrodysplasia Ossificans Progressiva -ES
Institution: Information not provided - ES

A Phase 3 Multi-Center, One-Year, Open-Label study of Setmelanotide in Pediatric Patients Aged 2 to <6 years of age with Rare Genetic Causes of Obesity -ES
Hospital Infantil Universitario Niño Jesús

Servicio de Endocrinología, Crecimiento y Metabolismo

An open clinical trial, phase II to evaluate the efficacy and safety of the use of eltrombopag in children and adolescents with Fanconi Anemia -ES
Hospital Infantil Universitario Niño Jesús

Servicio de Hematología y Hemoterapia

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 - ES
Hospital Universitario La Paz

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

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

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

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

Effects of exenatide on appetite and ghrelin levels in patients with Prader-Willi Syndrome
Fazakerley Hospital

University Hospital Aintree - Diabetes and Endocrinology

Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity
University Hospital Birmingham

Marshfield Clinic

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). - SE
Aytu BioPharma, Inc.

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

A Randomized Phase 2 Study of Vincristine Versus Sirolimus to Treat High Risk Kaposiform Hemangioendothelioma (KHE) - US
Boston Children's Hospital

Quercetin in Children With Fanconi Anemia; a Pilot Study (Phase 1) - US
Cincinnati Children's Hospital Medical Center

Department of Pediatry

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

A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis
Institution: Information not provided - US