A Study of Vatiquinone for the Treatment of Participants With Friedreich Ataxia

A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

NCT04255680 ·Status: COMPLETED

Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria

NCT01732471 ·Status: COMPLETED ·Phase: PHASE3

Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria

NCT01412437 ·Status: WITHDRAWN ·Phase: NA

Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia

NCT04117711 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers

NCT05028764 ·Status: COMPLETED

Kuvan® in Phenylketonuria Patients Less Than 4 Years Old

NCT01376908 ·Status: COMPLETED ·Phase: PHASE3

Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia

NCT05302271 ·Status: RECRUITING ·Phase: PHASE1

Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

NCT00104247 ·Status: COMPLETED ·Phase: PHASE3

FA Clinical Outcome Measures

NCT03090789 ·Status: ACTIVE_NOT_RECRUITING

Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia

NCT06560346 ·Status: WITHDRAWN

Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006

NCT00332189 ·Status: COMPLETED ·Phase: PHASE3

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

NCT03520751 ·Status: NOT_YET_RECRUITING ·Phase: PHASE1/PHASE2

Kuvan®'s Effect on the Cognition of Children With Phenylketonuria

NCT01965912 ·Status: COMPLETED ·Phase: PHASE4

Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response

NCT00841100 ·Status: COMPLETED ·Phase: PHASE2

A Study of Sepiapterin in Participants With Phenylketonuria (PKU)

NCT06302348 ·Status: RECRUITING ·Phase: PHASE3

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

NCT06147856 ·Status: WITHDRAWN ·Phase: PHASE1/PHASE2

Sapropterin in Individuals With Phenylketonuria

NCT00730080 ·Status: COMPLETED

A Long-Term Study of JNT-517 in Participants With Phenylketonuria

NCT06628128 ·Status: RECRUITING ·Phase: PHASE3

Gene Therapy for Children With CLN3 Batten Disease

NCT03770572 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

Carisbamate in Adult & Pediatric Subjects With Lennox-Gastaut Syndrome

NCT03731715 ·Status: COMPLETED ·Phase: PHASE1

The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria

NCT02297347 ·Status: COMPLETED

Phenylketonuria, Oxidative Stress, and BH4

NCT01395394 ·Status: TERMINATED ·Phase: PHASE2

Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy

NCT00986973 ·Status: COMPLETED ·Phase: NA

Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria

NCT00104260 ·Status: COMPLETED ·Phase: PHASE2

The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)

NCT00964236 ·Status: COMPLETED