COL4A1 Gene Related Cerebra-retinal Angiopathy

Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy

NCT01801709 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Study of the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of Intravitreal Injections of FCFD4514S in Patients With Geographic Atrophy

NCT00973011 ·Status: COMPLETED ·Phase: PHASE1

Prognostic Significance of Mutation Type and Chromosome Fragility in Fanconi Anemia

NCT06490510 ·Status: COMPLETED

Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease

NCT01842841 ·Status: COMPLETED ·Phase: PHASE3

Macrophagic Activation and Immunophenotypic Profile of Patients With Gaucher's Disease

NCT01206673 ·Status: COMPLETED ·Phase: NA

Retrospective and Prospective Observational Study of MRI Changes in Bone and Visceral Lesions of Patients With Type 1 Gaucher Disease Treated With VPRIV® (Velaglucerase Alfa)

NCT03333447 ·Status: COMPLETED

An Observational Study in Children and Adults With Stargardt Disease

NCT06591806 ·Status: RECRUITING

Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network

NCT01586871 ·Status: COMPLETED

Krabbe Disease Global Patient Registry

NCT02993796 ·Status: RECRUITING

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

NCT03759665 ·Status: COMPLETED ·Phase: PHASE2

Evaluation of the Safety and Efficacy of Infantile-onset Pompe Disease Gene Therapy Drug

NCT05793307 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

Clinical Exploration of Adeno-associated Virus (AAV) Expressing Human Acid Alpha- Glucosidase (GAA) Gene Therapy for Patients With Infantile-onset Pompe Disease

NCT05567627 ·Status: RECRUITING ·Phase: NA

Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation

NCT07251673 ·Status: RECRUITING

Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy

NCT02176733 ·Status: UNKNOWN ·Phase: PHASE2

A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease

NCT01411228 ·Status: COMPLETED ·Phase: PHASE3

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

NCT04880356 ·Status: RECRUITING

Natural History Study of ATP1A3-related Disease

NCT03857607 ·Status: UNKNOWN

Natural History Study of Children With Metachromatic Leukodystrophy

NCT01963650 ·Status: TERMINATED

A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease

NCT01422187 ·Status: COMPLETED ·Phase: PHASE3

Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment

NCT07277361 ·Status: RECRUITING

Long Term Follow-up on Menkes Disease Patients

NCT04337684 ·Status: ACTIVE_NOT_RECRUITING

A Screening Study Evaluating Disease Status of Gaucher Type I Patients

NCT00795197 ·Status: WITHDRAWN

Lipa Gene Mutation in PED-LIPIGEN (Pediatric FH Subjects)

NCT03984149 ·Status: UNKNOWN

Gaucherite - A Study to Stratify Gaucher Disease

NCT03240653 ·Status: RECRUITING

Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene

NCT06807723 ·Status: RECRUITING