Natural History Study of Participants With Sanfilippo Syndrome Type IIIC

Natural History Observational Study of MPS IIIa in SMC

NCT04918641 ·Status: UNKNOWN

A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

NCT02493998 ·Status: COMPLETED

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

NCT03227042 ·Status: ACTIVE_NOT_RECRUITING

Natural History Studies of Mucopolysaccharidosis III

NCT02037880 ·Status: COMPLETED

Angelman Syndrome Natural History Study-FAST UK

NCT05100810 ·Status: RECRUITING

Natural History Study of Patients With MPS IIIA

NCT02746341 ·Status: COMPLETED

A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

NCT02293382 ·Status: COMPLETED

Angelman Syndrome Natural History Study

NCT04507997 ·Status: RECRUITING

A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)

NCT01047306 ·Status: COMPLETED

Natural History of Netherton Syndrome

NCT05902663 ·Status: TERMINATED

A Natural History of Late Onset Tay-Sachs Disease

NCT02851862 ·Status: COMPLETED

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

NCT05155488 ·Status: COMPLETED

Natural History Study of Patients With VCP-related Disease

NCT04823143 ·Status: COMPLETED

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

Natural History Study of Children With Metachromatic Leukodystrophy

NCT01963650 ·Status: TERMINATED

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

NCT02435030 ·Status: COMPLETED

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

NCT04712812 ·Status: RECRUITING

Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2

NCT04470713 ·Status: COMPLETED

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

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

NCT01586871 ·Status: COMPLETED

French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH

NCT01314534 ·Status: COMPLETED

Studies in Patients With Tuberous Sclerosis Complex

NCT03276195 ·Status: COMPLETED

Natural History Study of ATP1A3-related Disease

NCT03857607 ·Status: UNKNOWN

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

NCT06078553 ·Status: RECRUITING

Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)

NCT06181136 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2