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Essai(s) clinique(s) national(aux)

SEQUOIA: A Placebo-Controlled, Multi-dose, Phase 2 Study to Determine the Safety, Tolerability and Pharmacodynamic Effect of ARO-AAT in Patients With Alpha-1 Antitrypsin Deficiency (AATD) - AT Institution: Information not provided - AT

ESTRELLA: A Phase 2a, Randomized, Double-blind, Placebo-controlled, Safety, Tolerability, Pharmacokinetic and Pharmacodynamic Study of Belcesiran in Patients with PiZZ Alpha-1 Antitrypsin Deficiency - AT Institution: Information not provided - AT

ESTRELLA: A Phase 2a, Randomized, Double-blind, Placebo-controlled, Safety, Tolerability, Pharmacokinetic and Pharmacodynamic Study of Belcesiran in Patients with PiZZ Alpha-1 Antitrypsin Deficiency - ES Institution: Information not provided - ES

An Open-Label, Multicenter Study to Evaluate the Long-term Safety of Weekly Intravenous Alpha1-Proteinase Inhibitor (Human), Modified Process 60 mg/kg in Subjects With Pulmonary Emphysema Due to Alpha1-Antitrypsin Deficiency (EE) Lung Clinic - Tartu University Hospital Lung Clinic

COMMODORE 2: A Phase III, Randomized, Open-Label, Active-Controlled, Multicenter Study Evaluating The Efficacy And Safety Of Crovalimab Versus Eculizumab In Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Not Previously Treated With Complement Inhibitors - DE Universitätsklinikum Ulm

An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies -DE- Universitätsklinikum Würzburg

MARVEL1: A Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry Disease -DE Zentrum Innere Medizin (ZIM) Medizinische Klinik und Poliklinik I - Fabry-Zentrum Würzburg

A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease (Phase 3) -DE- Zentrum Innere Medizin (ZIM) Medizinische Klinik und Poliklinik I - Nephrologie

An Open-Label, Multicenter, Multinational Extension Study Of The Long-Term Safety And Pharmacokinetics Of Repeated Biweekly Infusions Of NeoGAA In Patients With Pompe Disease (Phase II-III) - DE Institution: Information not provided - DE

A Randomized, Double-Blind, Active-Controlled Phase 3 Study Evaluating the Efficacy and Safety of ABP 959 Compared With Eculizumab in Adult Subjects With Paroxysmal Nocturnal Hemoglobinuria (PNH) -DE- Institution: Information not provided - DE

MRX-503: An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects with Progressive Familial Intrahepatic Cholestasis (PFIC) - DE Institution: Information not provided - DE

An Open Label, Single-Arm, Phase 2 Study to Evaluate the Safety, Pharmacokinestics, and Biologic Activity of Pegcetacoplan in Pediatric Patients With Paroxysmal Nocturnal Hemoglobinuria -DE Institution: Information not provided - DE

ILLUMINATE-C: A Single Arm Study to Evaluate Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1 (PH1) -DE Institution: Information not provided - DE

PHYOX 3: An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR PHXC Solution for Injection (subcutaneous use) in Patients with Primary Hyperoxaluria -DE Institution: Information not provided - DE

PHYOX 7: A Phase 2 Open-Label Study to Evaluate the Safety and Efficacy of DCR-PHXC in Patients With Primary Hyperoxaluria Type 1 or 2 and Severe Renal Impairment, With or Without Dialysis -DE Institution: Information not provided - DE

COMPASS: CNS Unmet Medical Need in Mucopolysaccharidosis: A Phase 2 Safety and Pharmacokinetics Study of Ataluren - DE UKE - Universitätsklinikum Hamburg-Eppendorf Klinik und Poliklinik für Kinder- und Jugendmedizin

An adaptive Phase I/II study to assess safety, efficacy, pharmacokinetics and pharmacodynamics of RO7112689 in healthy volunteers and patients with paroxysmal nocturnal hemoglobinuria (PNH) -DE Universitätsklinikum Aachen ZSEA - Zentrum für Seltene Erkrankungen Aachen

OC5-OL-01: A Phase 2 Open-label Multi-centre Study to Evaluate the Efficacy and Safety of Oxabact® to Reduce Plasma Oxalate in Subjects With Primary Hyperoxaluria Who Are on Dialysis - DE Kindernierenzentrum Bonn

ePHex OLE: An open-label single-arm treatment extension study to evaluate the long-term efficacy and safety of Oxabact® for patients with primary hyperoxaluria who completed study OC5-DB-02 -DE Universitäts-Kinderklinik Bonn Abteilung für allgemeine Pädiatrie und Poliklinik

A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-Term Administration of ALN-GO1 in Patients with Primary Hyperoxaluria Type 1 - DE Universitätsklinikum Bonn (AöR) Universitätsklinikum Bonn

ILLUMINATE-A: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study With an Extended Dosing Period to Evaluate the Efficacy and Safety of Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 -DE- Universitätsklinikum Bonn (AöR) Universitätsklinikum Bonn

IMPROVES: A Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VI - DE Universitätsmedizin Mainz Villa Metabolica - Schwerpunktbereich angeborene Stoffwechselerkrankungen

COMMODORE 2: A Phase III, Randomized, Open-Label, Active-Controlled, Multicenter Study Evaluating The Efficacy And Safety Of Crovalimab Versus Eculizumab In Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Not Previously Treated With Complement Inhibitors - DE Elblandklinikum Riesa

A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adeno-associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Patients With Late-onset OTC Deficiency -AU Institution: Information not provided - AU

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

An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry Disease (Phase 3) - AT Institution: Information not provided - AT

A Phase 3, Randomized, Open-Label, Active-Controlled Study of ALXN1210 Versus Eculizumab in Complement Inhibitor-Naïve Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) - AT Institution: Information not provided - AT

A Randomised, Controlled, Open-Label Parallel Arm Study of Safety, PK and Ammonia Control of RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid and Sodium Phenylbutyrate in Phenylbutyrate Treatment Naïve Patients With Urea Cycle Disorders (Phase 4) - AT Institution: Information not provided - AT

PEACE (Pegzilarginase Effect on Arginase 1 Deficiency Clinical Endpoints): A Randomized, Double-blind, Placebo-controlled Phase 3 Study of the Efficacy and Safety of Pegzilarginase in Children and Adults With Arginase 1 Deficiency - AT Institution: Information not provided - AT

MARCH-PFIC: Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis - AT Institution: Information not provided - AT

MRX-503: An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects with Progressive Familial Intrahepatic Cholestasis (PFIC) - AT Institution: Information not provided - AT

A Phase 2, Open-Label Study to Evaluate the Long-term Safety of Oral BCX9930 in Subjects with Paroxysmal Nocturnal Hemoglobinuria (PNH) - AT Institution: Information not provided - AT

A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease (Phase 3) - AT Allgemeines Krankenhaus der Stadt Wien Klinische Abteilung für Nephrologie und Dialyse

MODIFY: A Multicenter, dOuble-blind, ranDomized, Placebo-controlled, Parallel-group Study to Determine the effIcacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With FabrY Disease (Phase 3) - AT Allgemeines Krankenhaus der Stadt Wien Klinische Abteilung für Nephrologie und Dialyse

Une étude d'extension, multicentrique, ouverte et non randomisée visant à évaluer l'innocuité et l'efficacité à long terme de l'APL-2 dans le traitement de l'hémoglobinurie paroxystique nocturne (HPN) (Phase III) - BE Cliniques universitaires Saint-Luc - UCLouvain Department of Hematology

MRX-503: Etude d'extension en ouvert évaluant la sécurité et l'efficacité de Maralixibat dans le traitement de sujets atteints de cholestase intrahépatique progressive familiale - BE Cliniques universitaires Saint-Luc - UCLouvain Service d'hépato-gastro-entérologie

ePHex OLE: Étude d'extension, à un seul bras, ouverte visant à évaluer l'efficacité et l'innocuité à long terme d'Oxabact® chez des patients atteints d'hyperoxalurie primaire ayant terminé l'étude OC5-DB-02 - BE CHU de Liège - Site du Sart Tilman Néphrologie

Etude multicentrique, en ouvert évaluant la sécurité d'emploi, la tolérabilité, l'efficacité, l'observance et l'acceptabilité de traitements alcalinisants à long terme chez des patients présentant une cystinurie - BE UZ Leuven - Campus Gasthuisberg Referentiecentrum voor kindernefrologie

Étude ouverte, multicentrique et multinationale portant sur l'innocuité et la pharmacocinétique à long terme de perfusions répétées bihebdomadaires de NeoGAA chez des patients atteints de maladie de Pompe (phase II-III) UZ Leuven - Campus Gasthuisberg UZ Leuven

Enzyme Replacement Therapy for Fabry Disease: A Model for the Integration of Rare Disease Therapeutics Into the Canadian Health Care System (Phase IV) Dalhousie University Department of Medicine, Division of Nephrology

BALANCE: A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta - ES Hospital Quirónsalud Zaragoza Servicio de Hematología

Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease - ES Hospital Quirónsalud Zaragoza Servicio de Hematología

COMET: A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of NeoGAA (GZ402666) and Alglucosidase Alfa in Treatmentnaïve Patients with Late-onset Pompe Disease - ES Institution: Information not provided - ES

An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies - ES Institution: Information not provided - ES

An Open Label, non-Randomized, multi-Center extension study to evaluate the long term safety and efficacy of APL-2 in the treatment of paroxysmal nocturnal hemoglobinuria (PNH) - ES Institution: Information not provided - ES

A Randomised, Controlled, Open-Label Parallel Arm Study of Safety, PK and Ammonia Control of RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid and Sodium Phenylbutyrate in Phenylbutyrate Treatment Naïve Patients With Urea Cycle Disorders - ES Institution: Information not provided - ES

MODIFY: A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease - ES Institution: Information not provided - ES

CAPtivate: A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults with Late-Onset OTC Deficiency - ES Institution: Information not provided - ES

A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease - ES Institution: Information not provided - ES

PHYOX 3: An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR PHXC Solution for Injection (subcutaneous use) in Patients with Primary Hyperoxaluria - ES Institution: Information not provided - ES

APPLY-PNH: A randomized, multicenter, active-comparator controlled, open-label trial to evaluate efficacy and safety of oral, twice daily LNP023 in adult patients with PNH and residual anemia, despite treatment with an intravenous anti-C5 antibody - ES Institution: Information not provided - ES

An Open Label, Single-Arm, Phase 2 Study to Evaluate the Safety, Pharmacokinestics, and Biologic Activity of Pegcetacoplan in Pediatric Patients With Paroxysmal Nocturnal Hemoglobinuria - ES Institution: Information not provided - ES

PHYOX 7: A Phase 2 Open-Label Study to Evaluate the Safety and Efficacy of DCR-PHXC in Patients With Primary Hyperoxaluria Type 1 or 2 and Severe Renal Impairment, With or Without Dialysis - ES Institution: Information not provided - ES

A Phase 2, Open-Label Study to Evaluate the Long-term Safety of Oral BCX9930 in Subjects with Paroxysmal Nocturnal Hemoglobinuria (PNH) - ES Institution: Information not provided - ES

ALPHA: A Phase 3 Study of Danicopan (ALXN2040) as Add-on Therapy to a C5 Inhibitor (Eculizumab or Ravulizumab) in Patients with Paroxysmal Nocturnal Hemoglobinuria Who Have Clinically Evident Extravascular Hemolysis (EVH) - ES Institution: Information not provided - ES

A Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease - ES Institution: Information not provided - ES

A Phase 2 Open-Label Proof of Concept Study to Assess the Efficacy, Safety, and Pharmacokinetics of the Oral Factor D (FD) Inhibitor ALXN2050 (ACH-0145228) in Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients as Monotherapy - ES Institution: Information not provided - ES

REDEEM-2: A Randomized, Double-Blind, Multicenter, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy, Safety, and Tolerability of Oral BCX9930 Monotherapy for the Treatment of Paroxysmal Nocturnal Hemoglobinuria - ES Institution: Information not provided - ES

A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy - ES Institution: Information not provided - ES

An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment - ES Hospital Infantil Universitario Niño Jesús Servicio de Neurología

A Phase 1/2 First-in-human, 2-part Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses (Part 1: Open-label) and Repeat Doses (Part 2: Randomized, Double-blind, Placebo-controlled) of UX053 in Patients with GSD III - ES Hospital Universitario 12 de Octubre

A Phase 3b Single Arm Clinical Study to Evaluate the Efficacy and Safety of MT1621 in Nucleos(t)Ide Treatment Naïve Pediatric and Adolescent Subjects With Thymidine Kinase 2 (TK2) Deficiency - ES Hospital Universitario 12 de Octubre Servicio de Neurología-Neurofisiología

A Phase 2 Open-Label Study of Continuation Treatment With Combination Pyrimidine Nucleosides in Patients With Thymidine Kinase 2 Deficiency (TK2) Hospital Universitario 12 de Octubre Unidad multidisciplinar de enfermedades neuromusculares y ELA

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

Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine (Phase 1/2) - US Children's Hospital Colorado Department of Genetics

A Phase 3, Open-Label Study of ALXN1210 in Children and Adolescents With Paroxysmal Nocturnal Hemoglobinuria (PNH).GB Alexion Pharmaceuticals, Inc.

COMET: A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of NeoGAA (GZ402666) and Alglucosidase Alfa in Treatment-naïve Patients With Late-onset Pompe Disease - GB Institution: Information not provided - US

A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-TermAdministration of ALN-GO1 in Patients with Primary Hyperoxaluria Type 1- GB Institution: Information not provided - US

A Randomized, Double-Blind, Active-Controlled Phase 3 Study Evaluating the Efficacy and Safety of ABP 959 Compared With Eculizumab in Adult Subjects With Paroxysmal Nocturnal Hemoglobinuria (PNH) - GB Institution: Information not provided - US

Étude d'extension de phase II, multicentrique, en ouvert, visant à évaluer l'administration à long terme d'ALN-GO1 chez des patients atteints d'hyperoxalurie primitive de type 1 - FR Institution: Information not provided - FR

MRX-503: Etude d'extension en ouvert évaluant la sécurité et l'efficacité de Maralixibat dans le traitement de sujets atteints de Cholestase intrahépatique progressive familiale (PFIC) Institution: Information 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

Study of Intra-monocytic Imiglucerase Kinetic and Its Correlation With Clinical and Biological Gaucher Disease (Phase II) - FR CHU de Clermont-Ferrand - Hôpital Gabriel Montpied CHU Clermont Ferrand

An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies - FR CHU Amiens-Picardie - Site Sud

Etude de phase II ouverte, randomisée, de recherche de dose, évaluant la sécurité et l'efficacité de l'AG-348 chez des patients adultes atteints de déficit en pyruvate kinase - FR Hôpitaux Universitaires Henri Mondor Unité des Maladies Génétiques du Globule Rouge

An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies - FR Hôpitaux Universitaires Henri Mondor CHU Henri Mondor

SEQUOIA: A Placebo-Controlled, Multi-dose, Phase 2 Study to Determine the Safety, Tolerability and Pharmacodynamic Effect of ARO-AAT in Patients With Alpha-1 Antitrypsin Deficiency (AATD) - AT
Institution: Information not provided - AT

ESTRELLA: A Phase 2a, Randomized, Double-blind, Placebo-controlled, Safety, Tolerability, Pharmacokinetic and Pharmacodynamic Study of Belcesiran in Patients with PiZZ Alpha-1 Antitrypsin Deficiency - AT
Institution: Information not provided - AT

ESTRELLA: A Phase 2a, Randomized, Double-blind, Placebo-controlled, Safety, Tolerability, Pharmacokinetic and Pharmacodynamic Study of Belcesiran in Patients with PiZZ Alpha-1 Antitrypsin Deficiency - ES
Institution: Information not provided - ES

An Open-Label, Multicenter Study to Evaluate the Long-term Safety of Weekly Intravenous Alpha1-Proteinase Inhibitor (Human), Modified Process 60 mg/kg in Subjects With Pulmonary Emphysema Due to Alpha1-Antitrypsin Deficiency (EE)
Lung Clinic - Tartu University Hospital

Lung Clinic

COMMODORE 2: A Phase III, Randomized, Open-Label, Active-Controlled, Multicenter Study Evaluating The Efficacy And Safety Of Crovalimab Versus Eculizumab In Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Not Previously Treated With Complement Inhibitors - DE
Universitätsklinikum Ulm

An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies -DE-
Universitätsklinikum Würzburg

MARVEL1: A Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry Disease -DE
Zentrum Innere Medizin (ZIM)

Medizinische Klinik und Poliklinik I - Fabry-Zentrum Würzburg

A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease (Phase 3) -DE-
Zentrum Innere Medizin (ZIM)

Medizinische Klinik und Poliklinik I - Nephrologie

An Open-Label, Multicenter, Multinational Extension Study Of The Long-Term Safety And Pharmacokinetics Of Repeated Biweekly Infusions Of NeoGAA In Patients With Pompe Disease (Phase II-III) - DE
Institution: Information not provided - DE

A Randomized, Double-Blind, Active-Controlled Phase 3 Study Evaluating the Efficacy and Safety of ABP 959 Compared With Eculizumab in Adult Subjects With Paroxysmal Nocturnal Hemoglobinuria (PNH) -DE-
Institution: Information not provided - DE

MRX-503: An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects with Progressive Familial Intrahepatic Cholestasis (PFIC) - DE
Institution: Information not provided - DE

An Open Label, Single-Arm, Phase 2 Study to Evaluate the Safety, Pharmacokinestics, and Biologic Activity of Pegcetacoplan in Pediatric Patients With Paroxysmal Nocturnal Hemoglobinuria -DE
Institution: Information not provided - DE

ILLUMINATE-C: A Single Arm Study to Evaluate Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1 (PH1) -DE
Institution: Information not provided - DE

PHYOX 3: An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR PHXC Solution for Injection (subcutaneous use) in Patients with Primary Hyperoxaluria -DE
Institution: Information not provided - DE

PHYOX 7: A Phase 2 Open-Label Study to Evaluate the Safety and Efficacy of DCR-PHXC in Patients With Primary Hyperoxaluria Type 1 or 2 and Severe Renal Impairment, With or Without Dialysis -DE
Institution: Information not provided - DE

COMPASS: CNS Unmet Medical Need in Mucopolysaccharidosis: A Phase 2 Safety and Pharmacokinetics Study of Ataluren - DE
UKE - Universitätsklinikum Hamburg-Eppendorf

Klinik und Poliklinik für Kinder- und Jugendmedizin

An adaptive Phase I/II study to assess safety, efficacy, pharmacokinetics and pharmacodynamics of RO7112689 in healthy volunteers and patients with paroxysmal nocturnal hemoglobinuria (PNH) -DE
Universitätsklinikum Aachen

ZSEA - Zentrum für Seltene Erkrankungen Aachen

OC5-OL-01: A Phase 2 Open-label Multi-centre Study to Evaluate the Efficacy and Safety of Oxabact® to Reduce Plasma Oxalate in Subjects With Primary Hyperoxaluria Who Are on Dialysis - DE
Kindernierenzentrum Bonn

ePHex OLE: An open-label single-arm treatment extension study to evaluate the long-term efficacy and safety of Oxabact® for patients with primary hyperoxaluria who completed study OC5-DB-02 -DE
Universitäts-Kinderklinik Bonn

Abteilung für allgemeine Pädiatrie und Poliklinik

A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-Term Administration of ALN-GO1 in Patients with Primary Hyperoxaluria Type 1 - DE
Universitätsklinikum Bonn (AöR)

Universitätsklinikum Bonn

ILLUMINATE-A: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study With an Extended Dosing Period to Evaluate the Efficacy and Safety of Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 -DE-
Universitätsklinikum Bonn (AöR)

Universitätsklinikum Bonn

IMPROVES: A Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VI - DE
Universitätsmedizin Mainz

Villa Metabolica - Schwerpunktbereich angeborene Stoffwechselerkrankungen

COMMODORE 2: A Phase III, Randomized, Open-Label, Active-Controlled, Multicenter Study Evaluating The Efficacy And Safety Of Crovalimab Versus Eculizumab In Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Not Previously Treated With Complement Inhibitors - DE
Elblandklinikum Riesa

A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adeno-associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Patients With Late-onset OTC Deficiency -AU
Institution: Information not provided - AU

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

An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry Disease (Phase 3) - AT
Institution: Information not provided - AT

A Phase 3, Randomized, Open-Label, Active-Controlled Study of ALXN1210 Versus Eculizumab in Complement Inhibitor-Naïve Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) - AT
Institution: Information not provided - AT

A Randomised, Controlled, Open-Label Parallel Arm Study of Safety, PK and Ammonia Control of RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid and Sodium Phenylbutyrate in Phenylbutyrate Treatment Naïve Patients With Urea Cycle Disorders (Phase 4) - AT
Institution: Information not provided - AT

PEACE (Pegzilarginase Effect on Arginase 1 Deficiency Clinical Endpoints): A Randomized, Double-blind, Placebo-controlled Phase 3 Study of the Efficacy and Safety of Pegzilarginase in Children and Adults With Arginase 1 Deficiency - AT
Institution: Information not provided - AT

MARCH-PFIC: Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis - AT
Institution: Information not provided - AT

MRX-503: An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects with Progressive Familial Intrahepatic Cholestasis (PFIC) - AT
Institution: Information not provided - AT

A Phase 2, Open-Label Study to Evaluate the Long-term Safety of Oral BCX9930 in Subjects with Paroxysmal Nocturnal Hemoglobinuria (PNH) - AT
Institution: Information not provided - AT

A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease (Phase 3) - AT
Allgemeines Krankenhaus der Stadt Wien

Klinische Abteilung für Nephrologie und Dialyse

MODIFY: A Multicenter, dOuble-blind, ranDomized, Placebo-controlled, Parallel-group Study to Determine the effIcacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With FabrY Disease (Phase 3) - AT
Allgemeines Krankenhaus der Stadt Wien

Klinische Abteilung für Nephrologie und Dialyse

Une étude d'extension, multicentrique, ouverte et non randomisée visant à évaluer l'innocuité et l'efficacité à long terme de l'APL-2 dans le traitement de l'hémoglobinurie paroxystique nocturne (HPN) (Phase III) - BE
Cliniques universitaires Saint-Luc - UCLouvain

Department of Hematology

MRX-503: Etude d'extension en ouvert évaluant la sécurité et l'efficacité de Maralixibat dans le traitement de sujets atteints de cholestase intrahépatique progressive familiale - BE
Cliniques universitaires Saint-Luc - UCLouvain

Service d'hépato-gastro-entérologie

ePHex OLE: Étude d'extension, à un seul bras, ouverte visant à évaluer l'efficacité et l'innocuité à long terme d'Oxabact® chez des patients atteints d'hyperoxalurie primaire ayant terminé l'étude OC5-DB-02 - BE
CHU de Liège - Site du Sart Tilman

Néphrologie

Etude multicentrique, en ouvert évaluant la sécurité d'emploi, la tolérabilité, l'efficacité, l'observance et l'acceptabilité de traitements alcalinisants à long terme chez des patients présentant une cystinurie - BE
UZ Leuven - Campus Gasthuisberg

Referentiecentrum voor kindernefrologie

Étude ouverte, multicentrique et multinationale portant sur l'innocuité et la pharmacocinétique à long terme de perfusions répétées bihebdomadaires de NeoGAA chez des patients atteints de maladie de Pompe (phase II-III)
UZ Leuven - Campus Gasthuisberg

UZ Leuven

Enzyme Replacement Therapy for Fabry Disease: A Model for the Integration of Rare Disease Therapeutics Into the Canadian Health Care System (Phase IV)
Dalhousie University

Department of Medicine, Division of Nephrology

BALANCE: A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta - ES
Hospital Quirónsalud Zaragoza

Servicio de Hematología

Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease - ES
Hospital Quirónsalud Zaragoza

Servicio de Hematología

COMET: A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of NeoGAA (GZ402666) and Alglucosidase Alfa in Treatmentnaïve Patients with Late-onset Pompe Disease - ES
Institution: Information not provided - ES

An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies - ES
Institution: Information not provided - ES

An Open Label, non-Randomized, multi-Center extension study to evaluate the long term safety and efficacy of APL-2 in the treatment of paroxysmal nocturnal hemoglobinuria (PNH) - ES
Institution: Information not provided - ES

A Randomised, Controlled, Open-Label Parallel Arm Study of Safety, PK and Ammonia Control of RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid and Sodium Phenylbutyrate in Phenylbutyrate Treatment Naïve Patients With Urea Cycle Disorders - ES
Institution: Information not provided - ES

MODIFY: A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease - ES
Institution: Information not provided - ES

CAPtivate: A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults with Late-Onset OTC Deficiency - ES
Institution: Information not provided - ES

A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease - ES
Institution: Information not provided - ES

PHYOX 3: An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR PHXC Solution for Injection (subcutaneous use) in Patients with Primary Hyperoxaluria - ES
Institution: Information not provided - ES

APPLY-PNH: A randomized, multicenter, active-comparator controlled, open-label trial to evaluate efficacy and safety of oral, twice daily LNP023 in adult patients with PNH and residual anemia, despite treatment with an intravenous anti-C5 antibody - ES
Institution: Information not provided - ES

An Open Label, Single-Arm, Phase 2 Study to Evaluate the Safety, Pharmacokinestics, and Biologic Activity of Pegcetacoplan in Pediatric Patients With Paroxysmal Nocturnal Hemoglobinuria - ES
Institution: Information not provided - ES

PHYOX 7: A Phase 2 Open-Label Study to Evaluate the Safety and Efficacy of DCR-PHXC in Patients With Primary Hyperoxaluria Type 1 or 2 and Severe Renal Impairment, With or Without Dialysis - ES
Institution: Information not provided - ES

A Phase 2, Open-Label Study to Evaluate the Long-term Safety of Oral BCX9930 in Subjects with Paroxysmal Nocturnal Hemoglobinuria (PNH) - ES
Institution: Information not provided - ES

ALPHA: A Phase 3 Study of Danicopan (ALXN2040) as Add-on Therapy to a C5 Inhibitor (Eculizumab or Ravulizumab) in Patients with Paroxysmal Nocturnal Hemoglobinuria Who Have Clinically Evident Extravascular Hemolysis (EVH) - ES
Institution: Information not provided - ES

A Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease - ES
Institution: Information not provided - ES

A Phase 2 Open-Label Proof of Concept Study to Assess the Efficacy, Safety, and Pharmacokinetics of the Oral Factor D (FD) Inhibitor ALXN2050 (ACH-0145228) in Paroxysmal Nocturnal Hemoglobinuria (PNH) Patients as Monotherapy - ES
Institution: Information not provided - ES

REDEEM-2: A Randomized, Double-Blind, Multicenter, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy, Safety, and Tolerability of Oral BCX9930 Monotherapy for the Treatment of Paroxysmal Nocturnal Hemoglobinuria - ES
Institution: Information not provided - ES

A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy - ES
Institution: Information not provided - ES

An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment - ES
Hospital Infantil Universitario Niño Jesús

Servicio de Neurología

A Phase 1/2 First-in-human, 2-part Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses (Part 1: Open-label) and Repeat Doses (Part 2: Randomized, Double-blind, Placebo-controlled) of UX053 in Patients with GSD III - ES
Hospital Universitario 12 de Octubre

A Phase 3b Single Arm Clinical Study to Evaluate the Efficacy and Safety of MT1621 in Nucleos(t)Ide Treatment Naïve Pediatric and Adolescent Subjects With Thymidine Kinase 2 (TK2) Deficiency - ES
Hospital Universitario 12 de Octubre

Servicio de Neurología-Neurofisiología

A Phase 2 Open-Label Study of Continuation Treatment With Combination Pyrimidine Nucleosides in Patients With Thymidine Kinase 2 Deficiency (TK2)
Hospital Universitario 12 de Octubre

Unidad multidisciplinar de enfermedades neuromusculares y ELA

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

Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine (Phase 1/2) - US
Children's Hospital Colorado

Department of Genetics

A Phase 3, Open-Label Study of ALXN1210 in Children and Adolescents With Paroxysmal Nocturnal Hemoglobinuria (PNH).GB
Alexion Pharmaceuticals, Inc.

COMET: A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of NeoGAA (GZ402666) and Alglucosidase Alfa in Treatment-naïve Patients With Late-onset Pompe Disease - GB
Institution: Information not provided - US

A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-TermAdministration of ALN-GO1 in Patients with Primary Hyperoxaluria Type 1- GB
Institution: Information not provided - US

A Randomized, Double-Blind, Active-Controlled Phase 3 Study Evaluating the Efficacy and Safety of ABP 959 Compared With Eculizumab in Adult Subjects With Paroxysmal Nocturnal Hemoglobinuria (PNH) - GB
Institution: Information not provided - US

Étude d'extension de phase II, multicentrique, en ouvert, visant à évaluer l'administration à long terme d'ALN-GO1 chez des patients atteints d'hyperoxalurie primitive de type 1 - FR
Institution: Information not provided - FR

MRX-503: Etude d'extension en ouvert évaluant la sécurité et l'efficacité de Maralixibat dans le traitement de sujets atteints de Cholestase intrahépatique progressive familiale (PFIC)
Institution: Information 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

Study of Intra-monocytic Imiglucerase Kinetic and Its Correlation With Clinical and Biological Gaucher Disease (Phase II) - FR
CHU de Clermont-Ferrand - Hôpital Gabriel Montpied

CHU Clermont Ferrand

An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies - FR
CHU Amiens-Picardie - Site Sud

Etude de phase II ouverte, randomisée, de recherche de dose, évaluant la sécurité et l'efficacité de l'AG-348 chez des patients adultes atteints de déficit en pyruvate kinase - FR
Hôpitaux Universitaires Henri Mondor

Unité des Maladies Génétiques du Globule Rouge

An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies - FR
Hôpitaux Universitaires Henri Mondor

CHU Henri Mondor

MyFABT1 : Intérêt du suivi par IRM de patients atteints de la maladie de Fabry : impact du traitement par Agalsidase Alpha (Replagal®)
CHU de Rouen

Service d'Imagerie médicale Charles-Nicolle

An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies - FR
CHU de Marseille - Hôpital de la Timone

MPSVI CSP: MPS VI Clinical Surveillance Program (CSP) (Phase IV) - IE
Children's Health Ireland @ Temple Street

National Centre for Inherited Metabolic Disorders

An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies - IE
St James's Hospital

Department of Haematology