Prospective, Long Term, Observational Study (Patient Registry) of Paediatric Myotonic Disorders

Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria

NCT05270837 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18

NCT04808505 ·Status: RECRUITING ·Phase: PHASE3

National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)

NCT05563831 ·Status: COMPLETED

A Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients with MPS Ⅱ

NCT05422482 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1

Safety and Efficacy of Tideglusib in Congenital or Childhood Onset Myotonic Dystrophy

NCT05004129 ·Status: RECRUITING ·Phase: PHASE2/PHASE3

Safety & Efficacy Study of ORGN001 (Formerly ALXN1101) in Pediatric Patients With MoCD Type A Currently Treated With rcPMP

NCT02047461 ·Status: COMPLETED ·Phase: PHASE2

Study of Tesomet With Open-label Extension in Subjects With Prader-Willi Syndrome

NCT05198362 ·Status: WITHDRAWN ·Phase: PHASE2

Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug Challenge

NCT05418049 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE2

Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)

NCT02324049 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Long-term Interventional Follow-up Study of Children With Prader-Willi Syndrome Included in the OTBB3 Clinical Trial

NCT05032326 ·Status: RECRUITING ·Phase: PHASE3

Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses

NCT00672022 ·Status: COMPLETED ·Phase: PHASE3

Evaluation of Long Term Safety and Efficacy of Glepaglutide in Treatment of SBS - Extension Trial

NCT04881825 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa

NCT04910776 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy

NCT03692312 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome

NCT02126995 ·Status: COMPLETED ·Phase: PHASE2

Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase

NCT03856203 ·Status: COMPLETED

The Long-term Effect on Intestinal Absorption and Safety of Treatment With Glepaglutide in Patients With Short Bowel Syndrome

NCT04991311 ·Status: COMPLETED ·Phase: PHASE3

Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age

NCT02418455 ·Status: COMPLETED ·Phase: PHASE2

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

NCT03533673 ·Status: COMPLETED ·Phase: PHASE1

A Study of Long-term Safety and Efficacy of VX-670 in Participants With Myotonic Dystrophy Type I

NCT06926621 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE2

A Real World Effectiveness Study of Pegcetacoplan in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH)

NCT05776472 ·Status: RECRUITING

Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy

NCT02858908 ·Status: COMPLETED ·Phase: PHASE2

A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)

NCT07157254 ·Status: RECRUITING ·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

Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU

NCT03694353 ·Status: COMPLETED ·Phase: PHASE3