Safety and Efficacy Study of Thalomid in Patients With Chronic Pancreatitis

A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome

NCT05163808 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

A Study to Investigate the Pharmacokinetics (PK) and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype.

NCT05630066 ·Status: COMPLETED ·Phase: PHASE2

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

NCT00002157 ·Status: COMPLETED ·Phase: NA

A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease

NCT00081497 ·Status: COMPLETED ·Phase: PHASE4

PR-018: An Open-Label, Safety Extension of Study PR-011

NCT01131507 ·Status: COMPLETED ·Phase: PHASE4

An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome

NCT05367960 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

Sirolimus for the Treatment of Hyperinsulinism

NCT02524639 ·Status: WITHDRAWN ·Phase: PHASE1/PHASE2

Topical Rapamycin/Sirolimus for Complicated Vascular Anomalies and Other Susceptible Lesions

NCT04172922 ·Status: TERMINATED ·Phase: PHASE1

Pharmacogenetic Determinants Of Treatment Response In Children

NCT00730678 ·Status: RECRUITING

A Study of Fabrazyme in Pediatric Patients With Fabry Disease

NCT00074958 ·Status: COMPLETED ·Phase: PHASE2

A Pharmacokinetic, Pharmacodynamic, Safety and Tolerability Study of CERC-006 in Adults With Complex Lymphatic Malformations

NCT04994002 ·Status: WITHDRAWN ·Phase: PHASE1

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

NCT02193867 ·Status: TERMINATED ·Phase: PHASE2

Gene Therapy Clinical Study in Adult PKU

NCT03952156 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

Low-Dose Sirolimus to Increase Hematopoietic Function in Patients With RUNX1 Familial Platelet Disorder

NCT06261060 ·Status: RECRUITING ·Phase: PHASE2

Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies

NCT00975819 ·Status: COMPLETED ·Phase: PHASE2

Study to Assess PXL065 in Subjects With Adrenomyeloneuropathy (AMN) Form of X-linked Adrenoleukodystrophy (X-ALD or ALD)

NCT05200104 ·Status: WITHDRAWN ·Phase: PHASE2

Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)

NCT00410566 ·Status: TERMINATED ·Phase: PHASE1

A Study to Examine the Clinical Effectiveness of Tafamidis in Patients With Mixed Phenotype Hereditary Transthyretin Amyloidosis

NCT05139680 ·Status: COMPLETED

Pilot Study of Dapansutrile Capsules in Schnitzler's Syndrome

NCT03595371 ·Status: TERMINATED ·Phase: PHASE2

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

NCT04595513 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Different Doses of Sirolimus for the Treatment of Cystic Lymphatic Malformations

NCT06673290 ·Status: RECRUITING ·Phase: PHASE2/PHASE3

A First-in-Human Phase 1 Study of Plasmalogen Precursor PPI-1011 in Healthy Adult Volunteers to Assess Safety, Tolerability, and Pharmacokinetics

NCT05969977 ·Status: UNKNOWN ·Phase: PHASE1

Open-Label Phase 3 Long-Term Safety Study of Migalastat

NCT01458119 ·Status: TERMINATED ·Phase: PHASE3

Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency

NCT05222178 ·Status: TERMINATED ·Phase: PHASE1

A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome

NCT05358886 ·Status: COMPLETED ·Phase: PHASE3