Lonafarnib for Patients With Hutchinson-Gilford Progeria Syndrome or Progeroid Laminopathy

Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON]

NCT02300753 ·Status: NO_LONGER_AVAILABLE

Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease

NCT00954460 ·Status: APPROVED_FOR_MARKETING

A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease

NCT01422187 ·Status: COMPLETED ·Phase: PHASE3

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

NCT02428296 ·Status: COMPLETED ·Phase: PHASE2

Intrathecal Enzyme Replacement for Hurler Syndrome

NCT00638547 ·Status: COMPLETED ·Phase: PHASE1

A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients

NCT00358150 ·Status: COMPLETED ·Phase: PHASE2

A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients

NCT00144768 ·Status: COMPLETED ·Phase: PHASE4

Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease

NCT02800070 ·Status: COMPLETED ·Phase: PHASE1

Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)

NCT01299727 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

A Long-term Follow-up Study of Participants Who Received Delandistrogene Moxeparvovec (SRP-9001) in a Previous Clinical Study

NCT05967351 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE3

An Intermediate Access Protocol for Selumetinib for Treatment of Neurofibromatosis Type 1

NCT03259633 ·Status: APPROVED_FOR_MARKETING

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

NCT05222178 ·Status: TERMINATED ·Phase: PHASE1

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

NCT05139680 ·Status: COMPLETED

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

Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients

NCT00146770 ·Status: COMPLETED ·Phase: PHASE3

Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease Patients

NCT04552691 ·Status: APPROVED_FOR_MARKETING

Phase 2, Open-Label Study to Evaluate the Safety and Tolerability of Progerinin in Werner Syndrome

NCT05847179 ·Status: NOT_YET_RECRUITING ·Phase: PHASE2

A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old

NCT00146757 ·Status: COMPLETED ·Phase: PHASE2

Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies

NCT03317366 ·Status: NO_LONGER_AVAILABLE

A Study of Patients With Fabry Disease (US Specific)

NCT06906367 ·Status: RECRUITING

Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)

NCT05908656 ·Status: COMPLETED ·Phase: NA

Safety Study of Sirolimus and Hydroxychloroquine in Women With Lymphangioleiomyomatosis

NCT01687179 ·Status: COMPLETED ·Phase: PHASE1

Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia

NCT03687242 ·Status: COMPLETED ·Phase: PHASE2

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

Tideglusib: Expanded Access Use in Congenital Myotonic Dystrophy

NCT07119775 ·Status: AVAILABLE