ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome

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

Efficacy of Rapamycin (Sirolimus) in the Treatment of Peutz-Jeghers Syndrome

NCT03781050 ·Status: UNKNOWN ·Phase: PHASE4

Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA

NCT04360265 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE3

Long-Term Follow-up Study of Subjects With Fabry Disease Who Received Lentiviral Gene Therapy in Study AVRO-RD-01-201

NCT04999059 ·Status: TERMINATED

Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation

NCT02428296 ·Status: COMPLETED ·Phase: PHASE2

Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB

NCT03315182 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR)

NCT04046224 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

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

NCT04172922 ·Status: TERMINATED ·Phase: PHASE1

Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome

NCT01721733 ·Status: COMPLETED ·Phase: PHASE2

Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM

NCT00490789 ·Status: UNKNOWN ·Phase: PHASE2

A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)

NCT06990984 ·Status: NOT_YET_RECRUITING ·Phase: PHASE2

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

NCT02324049 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

NCT02293382 ·Status: COMPLETED

Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH

NCT02716246 ·Status: RECRUITING ·Phase: PHASE2/PHASE3

Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry Disease

NCT03454893 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

A Long-term Follow-up Study of Patients With MPS IIIB Treated With ABO-101

NCT04655911 ·Status: TERMINATED

A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

NCT02493998 ·Status: COMPLETED

A Study of Fabrazyme in Pediatric Patients With Fabry Disease

NCT00074958 ·Status: COMPLETED ·Phase: PHASE2

A Study to Evaluate Efficacy and Safety of VX-864 in Participants With the PiZZ Genotype

NCT05643495 ·Status: TERMINATED ·Phase: PHASE2

Efficacy and Safety of Sirolimus in Vascular Anomalies That Are Refractory to Standard Care

NCT02638389 ·Status: RECRUITING ·Phase: PHASE3

Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)

NCT03612869 ·Status: UNKNOWN ·Phase: PHASE2/PHASE3

Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis

NCT00409175 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome

NCT01348087 ·Status: TERMINATED ·Phase: PHASE2

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

NCT02193867 ·Status: TERMINATED ·Phase: PHASE2

Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study

NCT05104983 ·Status: RECRUITING ·Phase: PHASE2