Early Access Program for ALXN1840 in Patients With Wilson Disease

A Phase 1 Research Study to Evaluate Safety, Tolerability, and Pharmacokinetics of WVE-006 in Healthy Participants With Wild-type AAT Expression (RestorAATion-1)

NCT06186492 ·Status: COMPLETED ·Phase: PHASE1

Suitability of Nitisinone in Alkaptonuria 2

NCT01916382 ·Status: UNKNOWN ·Phase: PHASE3

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

NCT05200104 ·Status: WITHDRAWN ·Phase: PHASE2

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

Evaluation of the Efficacy and Safety of VX-864 in Subjects With the PiZZ Genotype

NCT04474197 ·Status: COMPLETED ·Phase: PHASE2

A Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease

NCT06650319 ·Status: RECRUITING ·Phase: EARLY_PHASE1

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

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

NCT02193867 ·Status: TERMINATED ·Phase: PHASE2

Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB)

NCT07185256 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency

NCT02796937 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE3

17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease

NCT00088374 ·Status: COMPLETED ·Phase: PHASE2

ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis

NCT05878860 ·Status: RECRUITING ·Phase: PHASE3

A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks

NCT01560286 ·Status: COMPLETED ·Phase: PHASE2

A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria

NCT06147856 ·Status: WITHDRAWN ·Phase: PHASE1/PHASE2

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

NCT05847179 ·Status: NOT_YET_RECRUITING ·Phase: PHASE2

Evaluation of the Efficacy and Safety of VX-814 in Subjects With the PiZZ Genotype

NCT04167345 ·Status: TERMINATED ·Phase: PHASE2

Safety, Tolerability and Pharmacodynamic Effect of Fazirsiran (TAK-999, ARO-AAT)

NCT03945292 ·Status: COMPLETED ·Phase: PHASE2

TPN-101 in Aicardi-Goutières Syndrome (AGS)

NCT05613868 ·Status: TERMINATED ·Phase: PHASE2

Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS)

NCT06334419 ·Status: COMPLETED ·Phase: PHASE2

Safety Dose Finding Study of ADVM-043 Gene Therapy to Treat Alpha-1 Antitrypsin (A1AT) Deficiency

NCT02168686 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype

NCT01358370 ·Status: COMPLETED

Study of the Safety and Biologic Activity of AL01211 in Treatment Naive Males With Classic Fabry Disease

NCT06114329 ·Status: RECRUITING ·Phase: PHASE2

A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria

NCT07241234 ·Status: RECRUITING ·Phase: PHASE1

Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)

NCT07209462 ·Status: RECRUITING ·Phase: PHASE2

A First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Gene Therapy With TTX-381 for the Ocular Manifestations Associated With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease

NCT05791864 ·Status: RECRUITING ·Phase: PHASE1/PHASE2