Induced Pluripotent Stem Cells for Niemann Pick Disease

N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)

NCT03759639 ·Status: COMPLETED ·Phase: PHASE2

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

Miglustat in Niemann-Pick Type C Disease

NCT00517153 ·Status: COMPLETED ·Phase: PHASE2

Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders

NCT03812055 ·Status: UNKNOWN

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

NCT00316498 ·Status: COMPLETED ·Phase: PHASE1

Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1

NCT02124083 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

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

Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas

NCT00076102 ·Status: COMPLETED ·Phase: PHASE2

Gene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type IIIA

NCT04201405 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann-Pick Disease Type C

NCT03893071 ·Status: UNKNOWN ·Phase: PHASE1

Study of Tasigna®/Nilotinib (AMN107) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas

NCT01275586 ·Status: COMPLETED ·Phase: EARLY_PHASE1

Application of Miglustat in Patients With Niemann-Pick Type C

NCT01760564 ·Status: COMPLETED ·Phase: PHASE3

The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis

NCT05006222 ·Status: COMPLETED ·Phase: NA

Stem Cell Gene Therapy for Cystinosis

NCT03897361 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

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

NCT03879655 ·Status: TERMINATED ·Phase: PHASE2/PHASE3

Pirfenidone in Treating Young Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas

NCT00053937 ·Status: COMPLETED ·Phase: PHASE1

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

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

NCT03570931 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE2/PHASE3

Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type II

NCT05665166 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C

NCT02435030 ·Status: COMPLETED

Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)

NCT02939547 ·Status: COMPLETED ·Phase: PHASE1

Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) Disease

NCT03687476 ·Status: WITHDRAWN ·Phase: PHASE2

Pilot Study of Dapansutrile Capsules in Schnitzler's Syndrome

NCT03595371 ·Status: TERMINATED ·Phase: PHASE2

Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of CDX 6114 in PKU Patients

NCT04256655 ·Status: WITHDRAWN ·Phase: PHASE1

Safety and Efficacy of Miglustat in Chinese NPC Patients

NCT03910621 ·Status: COMPLETED ·Phase: PHASE4