Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

NCT00344331 ·Status: RECRUITING

A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)

NCT06192576 ·Status: RECRUITING

Study of STG-001 in Subjects With Stargardt Disease

NCT04489511 ·Status: COMPLETED ·Phase: PHASE2

A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C

NCT05163288 ·Status: RECRUITING ·Phase: PHASE3

Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease

NCT01230801 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Study to Evaluate Safety and Tolerability of Olipudase Alfa in Pediatric and Adult Participants With Acid Sphingomyelinase Deficiency (ASMD) Who Completed the DFI12712 or the LTS13632 Study in France

NCT06949358 ·Status: COMPLETED ·Phase: PHASE2

24-Week Study to Assess the PD, Safety, Tolerability, and PK of GLM101 in Participants With PMM2-CDG

NCT05549219 ·Status: COMPLETED ·Phase: PHASE2

Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease

NCT00316498 ·Status: COMPLETED ·Phase: PHASE1

AAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe Disease

NCT03533673 ·Status: COMPLETED ·Phase: PHASE1

Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008

NCT04995315 ·Status: COMPLETED

An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome

NCT03882918 ·Status: TERMINATED ·Phase: PHASE3

Ophthalmic Manifestations of Patients With Mucopolysaccharidosis

NCT04770415 ·Status: UNKNOWN

Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLE

NCT05492799 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE4

A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)

NCT07082725 ·Status: RECRUITING ·Phase: PHASE3

Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease

NCT05758922 ·Status: COMPLETED ·Phase: PHASE2

A Natural History Study of Sanfilippo Syndrome Type D

NCT05648851 ·Status: COMPLETED

A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis

NCT07082543 ·Status: RECRUITING ·Phase: PHASE3

Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry Disease

NCT02995993 ·Status: COMPLETED ·Phase: PHASE1

Long Term Follow-up on Menkes Disease Patients

NCT04337684 ·Status: ACTIVE_NOT_RECRUITING

The Natural History of Infantile Globoid Cell Leukodystrophy

NCT00983879 ·Status: COMPLETED

A Natural History Study of Aspartylglucosaminuria

NCT03853876 ·Status: TERMINATED

The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)

NCT05705674 ·Status: RECRUITING

Diabetes/ Endocrine Surveillance in SDS

NCT04275479 ·Status: TERMINATED

Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment

NCT03687333 ·Status: COMPLETED ·Phase: PHASE4

TPN-101 in Aicardi-Goutières Syndrome (AGS)

NCT05613868 ·Status: TERMINATED ·Phase: PHASE2