Tideglusib: Expanded Access Use in Congenital Myotonic Dystrophy

Safety, Tolerability, Pharmacokinetics (PK), and Activity of ATYR1940 in Participants With Muscular Dystrophy - Study Extension

NCT02531217 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy

NCT02603562 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Pharmacokinetics and Safety of Givinostat in DMD Patients Ages From at Least 2 Years to Less Then 6 Years Old

NCT06769633 ·Status: RECRUITING ·Phase: PHASE2

Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I

NCT00912925 ·Status: COMPLETED ·Phase: PHASE3

Study to Assess Safety and Efficacy of Fingolimod in Children With Rett Syndrome

NCT02061137 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)

NCT05371613 ·Status: RECRUITING ·Phase: PHASE2/PHASE3

A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA

NCT00884949 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously

NCT02618512 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A

NCT03520751 ·Status: NOT_YET_RECRUITING ·Phase: PHASE1/PHASE2

An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.

NCT02350816 ·Status: TERMINATED ·Phase: PHASE2

A Study of RG1662 in Individuals With Down Syndrome

NCT01436955 ·Status: COMPLETED ·Phase: PHASE1

Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)

NCT02324049 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Orphan Drugs for Inherited Metabolic Diseases

NCT05818566 ·Status: COMPLETED

A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy

NCT03570931 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE2/PHASE3

An Open-Label Extension Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1 (FREEDOM-OLE)

NCT07220603 ·Status: RECRUITING ·Phase: PHASE2

Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1

NCT03879655 ·Status: TERMINATED ·Phase: PHASE2/PHASE3

Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome

NCT01609062 ·Status: TERMINATED ·Phase: PHASE2

Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia

NCT04117711 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

BMN 110 US Expanded Access Program

NCT01858103 ·Status: APPROVED_FOR_MARKETING

Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)

NCT01515956 ·Status: COMPLETED ·Phase: PHASE2

A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)

NCT01275066 ·Status: COMPLETED ·Phase: PHASE3

Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses

NCT00672022 ·Status: COMPLETED ·Phase: PHASE3

A Study to Evaluate Camoteskimab in Participants With Still's Disease

NCT04752371 ·Status: TERMINATED ·Phase: PHASE1

A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy

NCT03771898 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE2

An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of Subjects With Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) Disease

NCT05174039 ·Status: COMPLETED ·Phase: PHASE1/PHASE2