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Condition: Brain Diseases Metabolic Inborn Synced from ClinicalTrials.gov · July 29, 2026

Recruiting studies: Brain Diseases Metabolic Inborn

Studies currently listed as recruiting on the public registry for this search term. Each page explains the study in plain language, with locations and the study team's contact details. Clinicians: generate a printable list for your patient →

Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI
Phase 2 · 1 location(s) · Assistance Publique - Hôpitaux de Paris · NCT06887777A Gaucher Disease Gene Therapy Trial With FLT201
Phase 3 · 33 location(s) · Spur Therapeutics · NCT07223944Study of LX2006 Gene Therapy in Friedreich Ataxia Cardiomyopathy
Phase 2 · 1 location(s) · Lexeo Therapeutics · NCT07721025A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeedin
Phase N/A · 1 location(s) · Amicus Therapeutics · NCT04252066Krabbe Disease Global Patient Registry
Phase N/A · 1 location(s) · State University of New York at Buffalo · NCT02993796A Study to Learn More About the Effects and Long-Term Safety of Omaveloxolone (BIIB141) in Children and Teens With Fried
Phase 3 · 34 location(s) · Biogen · NCT06953583Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI
NA · 1 location(s) · University Health Network, Toronto · NCT04856059Ovarian Tissue Cryopreservation in Pre-Pubertal (OTC-Pre Pubertal)
Phase N/A · 1 location(s) · Erin Rowell · NCT05299710Epidural Spinal Cord Stimulation for Lower-limb Impairment in Adrenomyeloneuropathy
NA · 4 location(s) · Third Military Medical University · NCT06796920[18F]FT8 PET Imaging in Immunoglobulin Light Chain Amyloidosis
Phase N/A · 2 location(s) · Tianjin Medical University · NCT07232459Cardiac Involvement in Wilson's Disease
NA · 1 location(s) · Fondation Ophtalmologique Adolphe de Rothschild · NCT05493605Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency
NA · 1 location(s) · University Hospital, Motol · NCT06497829Prognosis of Cerebral Small Vessel Disease
Phase N/A · 1 location(s) · Insel Gruppe AG, University Hospital Bern · NCT05734378World Data on Ambroxol for Patients With GD and GBA Related PD
Phase N/A · 3 location(s) · Shaare Zedek Medical Center · NCT04388969A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)
Phase N/A · 11 location(s) · BioMarin Pharmaceutical · NCT06305234The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
Phase N/A · 1 location(s) · National Human Genome Research Institute (NHGRI) · NCT01780168Study of CAR T-Cells Targeting the GD2 With IL-15+iCaspase9 for Relapsed/Refractory Neuroblastoma or Relapsed/Refractory
Phase 1 · 2 location(s) · UNC Lineberger Comprehensive Cancer Center · NCT03721068A Study of JNT-517 in Participants With Phenylketonuria (PKU)
Phase 3 · 26 location(s) · Otsuka Pharmaceutical Development & Commercialization, Inc. · NCT06971731Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting
Phase N/A · 7 location(s) · Chiesi Italia · NCT07109375A Long-term Follow-up Study of Gaucher Disease
Phase N/A · 1 location(s) · Duke University · NCT03190837KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
Phase 3 · 10 location(s) · Khondrion BV · NCT06451757Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Phase N/A · 1 location(s) · Eunice Kennedy Shriver National Institute of Child Health an · NCT00344331Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
Phase 2 · 28 location(s) · Shionogi · NCT07123155Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study
Phase N/A · 1 location(s) · Yale University · NCT07301216A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD
Phase 2 · 1 location(s) · Arcturus Therapeutics, Inc. · NCT06488313Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
NA · 1 location(s) · IRCCS Eugenio Medea · NCT07095062Friedreich Ataxia Nerve Ultrasund
Phase N/A · 1 location(s) · Centre Hospitalier Universitaire de Nice · NCT07508631Functional Evaluation in Patients With Urea Cycle Disorders (UCD) During a Driving Task
Phase N/A · 1 location(s) · St. Jude Children's Research Hospital · NCT07701694Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disea
Phase N/A · 9 location(s) · Ionis Pharmaceuticals, Inc. · NCT05659901Registry of Patients Diagnosed With Lysosomal Storage Diseases
Phase N/A · 1 location(s) · University of California, San Francisco · NCT05619900
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This page is independently generated by Eichor from the public ClinicalTrials.gov record and re-synced daily. It is not the sponsor's official website unless claimed. Nothing here is medical advice; eligibility is always determined by the study team — talk to your own doctor first.