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A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease Dose-Ranging Study of ST-920, an AAV2/​6 Human Alpha Galactosidase A Gene Therapy in Subjects With...

Sanofi Genzyme Rare Disease Registry - A Multi-Center, International, Longitudinal, Observational program designed to track natural history and outcomes of patients with Gaucher, Fabry, MPSI, and Pompe Disease ( Gaucher registry, Fabry registry, MPSI registry, Pompe registry) International...

A Phase 1/2 Open-Label, Dose Escalation Study to Determine the Safety and Efficacy of BMN 307, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Phenylalanine Hydroxylase in Subjects with Phenylketonuria and Plasma Phe Levels > 600 μmol/L ClinicalTrials.gov ID NCT04480567 Sponsor...

Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program ClinicalTrials.gov ID NCT04632953 Sponsor Ultragenyx Pharmaceutical Inc Information provided by Ultragenyx Pharmaceutical Inc (Responsible Party) Last Update Posted 2024-08-29 Study Overview The primary objective of this...

An Observational, Longitudinal, Prospective, Long-Term Registry of Patients with hypophosphatasia ClinicalTrials.gov ID NCT02306720 Sponsor Alexion Pharmaceuticals, Inc. Information provided by Alexion Pharmaceuticals, Inc. (Responsible Party) Last Update Posted 2024-09-19 Study Overview In this...

A Non-Interventional Post-Authorization Safety Study (PASS) of Carbaglu® for the Treatment ofHyperammonemia Due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA)in Adult and Pediatric Patient Populations ClinicalTrials.gov ID NCT05040178 Sponsor Recordati Rare Diseases Information provided...

A Phase 1, First-In-Human, Multiple Part, Single Ascending and Multiple Dose Study of JNT-517 in Healthy Participants and in Participants with Phenylketonuria ClinicalTrials.gov ID NCT05781399 Sponsor Jnana Therapeutics Information provided by Jnana Therapeutics (Responsible Party) Last Update...

A Phase 3 Multi-Center Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase in Adolescent Subjects (Ages 12-17) with Phenylketonuria Featuring an Open-Label Randomized Two-Arm (Active vs. Diet-Only Control) Design ClinicalTrials.gov ID NCT05270837 Sponsor BioMarin...