A Natural History of Late Onset Tay-Sachs Disease

Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease

NCT06614569 ·Status: ACTIVE_NOT_RECRUITING

First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis

NCT04798235 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2

NCT04221451 ·Status: TERMINATED ·Phase: PHASE3

The Natural History of Infantile Globoid Cell Leukodystrophy

NCT00983879 ·Status: COMPLETED

A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease

NCT04669535 ·Status: TERMINATED ·Phase: PHASE1

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

NCT04712812 ·Status: RECRUITING

A Screening Study Evaluating Disease Status of Gaucher Type I Patients

NCT00795197 ·Status: WITHDRAWN

Natural History of Rett Syndrome & Related Disorders

NCT02738281 ·Status: COMPLETED

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

NCT05705674 ·Status: RECRUITING

Interviews and Video Capture in Patients With GM1 Gangliosidosis

NCT04310163 ·Status: COMPLETED

SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease

NCT02605603 ·Status: UNKNOWN

Gaucher Disease Outcome Survey (GOS)

NCT03291223 ·Status: RECRUITING

Natural History Study of Children With Metachromatic Leukodystrophy

NCT01963650 ·Status: TERMINATED

An 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease Progression

NCT06079567 ·Status: RECRUITING ·Phase: NA

A Long-term Follow-up Study of Gaucher Disease

NCT03190837 ·Status: RECRUITING

A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4

NCT06078553 ·Status: RECRUITING

Registry of Fabry Disease - A Multicenter Observational Study

NCT00055016 ·Status: COMPLETED

N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)

NCT03759665 ·Status: COMPLETED ·Phase: PHASE2

Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

NCT04880356 ·Status: RECRUITING

LGMD R1 Natural History Study

NCT05618080 ·Status: RECRUITING

Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme®

NCT00731081 ·Status: COMPLETED

The Natural History of Familial Dysautonomia

NCT03920774 ·Status: RECRUITING

Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)

NCT03822013 ·Status: TERMINATED ·Phase: PHASE3

A Study to Improve the Awareness of Mucopolysaccharidosis Type II in Brazil

NCT05155488 ·Status: COMPLETED

Giant Axonal Neuropathy Natural History Study

NCT01503125 ·Status: TERMINATED