Copper Histidinate Treatment for Menkes Disease

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

NCT00002157 ·Status: COMPLETED ·Phase: NA

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

NCT03520751 ·Status: NOT_YET_RECRUITING ·Phase: PHASE1/PHASE2

A Study of GC1111 in Hunter Syndrom Patients

NCT03920540 ·Status: COMPLETED ·Phase: PHASE3

A Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter Syndrome

NCT04007536 ·Status: COMPLETED

Efficacy and Safety Study of Protein C Concentrate in Subjects With Severe Congenital Protein C Deficiency

NCT00157118 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A

NCT03023540 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

Miglustat in Niemann-Pick Type C Disease

NCT00517153 ·Status: COMPLETED ·Phase: PHASE2

An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of Subjects With Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) Disease

NCT05174039 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

The Efficacy and Safety of Once Daily Mexiletine PR in Patients With Myotonic Dystrophy Type 1 and Type 2

NCT06523400 ·Status: RECRUITING ·Phase: PHASE3

Long-term Extension of GTX-102 in Angelman Syndrome

NCT06415344 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE3

Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy

NCT00607386 ·Status: COMPLETED ·Phase: PHASE4

A Phase II, Parallel Group, Randomized, Placebo-Controlled Study of the Safety and Efficacy of Thalidomide in Reducing Weight Loss in Adults With HIV Wasting Syndrome

NCT00002127 ·Status: COMPLETED ·Phase: PHASE2

DFT383 in Pediatric Participants With Nephropathic Cystinosis

NCT06910813 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome

NCT06953466 ·Status: RECRUITING ·Phase: PHASE2/PHASE3

Phase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson's Disease (WD)

NCT07173933 ·Status: NOT_YET_RECRUITING ·Phase: PHASE1/PHASE2

An Extension Study to Assess the Long-term Safety and Efficacy of Hunterase (Idursulfase Beta)

NCT07344376 ·Status: COMPLETED ·Phase: PHASE3

Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant

NCT03488394 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

An Open-Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Once Daily Mexiletine PR in Patients With Myotonic Dystrophy Type 1 and Type 2 Who Have Completed MEX-DM-302 Study.

NCT06549400 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE3

The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients

NCT02044692 ·Status: UNKNOWN

Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I

NCT00912925 ·Status: COMPLETED ·Phase: PHASE3

A Phase 3 Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE)

NCT06431893 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE3

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

NCT01422187 ·Status: COMPLETED ·Phase: PHASE3

A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy

NCT03570931 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE2/PHASE3

An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.

NCT02350816 ·Status: TERMINATED ·Phase: PHASE2

An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease

NCT00635427 ·Status: COMPLETED ·Phase: PHASE3