Compassionate Use Study of Two Dose Levels of Thalidomide in Adults With HIV Wasting Syndrome

Efficacy and Safety of Low-Dose Cytarabine Combined With Thalidomide in Adult Patients With Untreated LCH

NCT07187193 ·Status: RECRUITING ·Phase: PHASE2

Safety and Efficacy Study of Thalomid in Patients With Chronic Pancreatitis

NCT00469703 ·Status: TERMINATED ·Phase: PHASE2

Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

NCT00351156 ·Status: COMPLETED

Copper Histidinate Treatment for Menkes Disease

NCT04074512 ·Status: APPROVED_FOR_MARKETING

An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy

NCT07222371 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome

NCT04259281 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy

NCT02858908 ·Status: COMPLETED ·Phase: PHASE2

Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants

NCT04595513 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Study to Assess Safety and Efficacy of Fingolimod in Children With Rett Syndrome

NCT02061137 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Gene Therapy Clinical Study in Adult PKU

NCT03952156 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease

NCT00515398 ·Status: COMPLETED

Dose-Finding Study of SC411 in Children With Sickle Cell Disease

NCT02973360 ·Status: UNKNOWN ·Phase: PHASE2

An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome

NCT05011851 ·Status: COMPLETED ·Phase: PHASE2

An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome

NCT03882918 ·Status: TERMINATED ·Phase: PHASE3

An Initial Study of AZD7325 in Adults With Fragile X Syndrome

NCT03140813 ·Status: COMPLETED ·Phase: PHASE1

Safety and Durability of Sirolimus for Treatment of LAM

NCT02432560 ·Status: RECRUITING

Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies

NCT00975819 ·Status: COMPLETED ·Phase: PHASE2

A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease

NCT01132690 ·Status: COMPLETED ·Phase: PHASE4

A Study to Evaluate Safety, Tolerability, and Pharmacokinetics of Fenfluramine (Hydrochloride) in Infants 1 Year to Less Than 2 Years of Age With Dravet Syndrome

NCT06118255 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A

NCT03520751 ·Status: NOT_YET_RECRUITING ·Phase: PHASE1/PHASE2

Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)

NCT05149898 ·Status: COMPLETED ·Phase: PHASE2

A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease

NCT02473445 ·Status: TERMINATED ·Phase: PHASE2

A Study of RG1662 in Individuals With Down Syndrome

NCT01436955 ·Status: COMPLETED ·Phase: PHASE1

An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome

NCT02823145 ·Status: COMPLETED ·Phase: PHASE3

Retreatment and Its Efficiency of Thalidomide for Vascular Malformation Patients With Failure of First Course Treatment

NCT02301949 ·Status: WITHDRAWN ·Phase: PHASE2