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Condition: Genetic Metabolic Liver Diseases Synced from ClinicalTrials.gov · July 28, 2026

Recruiting studies: Genetic Metabolic Liver Diseases

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 →

Cardiac Involvement in Wilson's Disease
NA · 1 location(s) · Fondation Ophtalmologique Adolphe de Rothschild · NCT05493605
Study 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 · NCT07123155
Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study
Phase N/A · 1 location(s) · Yale University · NCT07301216
Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease
NA · 1 location(s) · Fondation Ophtalmologique Adolphe de Rothschild · NCT05183165
Spanish Wilson Disease Registry
Phase N/A · 1 location(s) · Asociación Española para el Estudio del Hígado · NCT06466291
Hepatic Histopathology in Urea Cycle Disorders
Phase N/A · 2 location(s) · Baylor College of Medicine · NCT04908319
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
Phase N/A · 3 location(s) · McGill University Health Centre/Research Institute of the Mc · NCT06190626
An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
Phase 1/Phase 2 · 12 location(s) · iECURE, Inc. · NCT06255782
Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)
Phase N/A · 1 location(s) · iECURE, Inc. · NCT06805695
Longitudinal Study of the Porphyrias
Phase N/A · 16 location(s) · The American Porphyrias Expert Collaborative · NCT01561157
Pathogenic Study of Adult Immune Enteropathies
Phase N/A · 4 location(s) · Institut National de la Santé Et de la Recherche Médicale, F · NCT04280510
Walking Program in Fatty Liver Children With Phenylketonuria
NA · 1 location(s) · Cairo University · NCT06718842
Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients
Phase N/A · 1 location(s) · Hospices Civils de Lyon · NCT06430359
ELEVATE, a Registry of Patients With Acute Hepatic Porphyria (AHP)
Phase N/A · 30 location(s) · Alnylam Pharmaceuticals · NCT04883905
A Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease
EARLY_Phase 1 · 1 location(s) · Chaohui Yu · NCT06650319
Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
Phase N/A · 1 location(s) · Institut National de la Santé Et de la Recherche Médicale, F · NCT04902807
Metabolic Responses to Bariatric Surgery
Phase N/A · 1 location(s) · University of California, Davis · NCT02024542
An Observational Study Evaluating Patients With Chronic Liver Diseases Associated With Hepatic Steatosis
Phase N/A · 1 location(s) · University of Copenhagen · NCT05335603
A Clinical Study on the Treatment of Wilson Disease With ATP7B mRNA/LNP (DSL101)
EARLY_Phase 1 · 1 location(s) · DSciLab Co., Ltd. · NCT07240896
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Phase N/A · 1 location(s) · McGill University Health Centre/Research Institute of the Mc · NCT01668186
International Wilson's Disease Patient Registry (iWilson Registry)
Phase N/A · 16 location(s) · Orphalan · NCT05239858
Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
Phase N/A · 19 location(s) · Portal Therapeutics, Inc. · NCT07567131
Natural History of Wilson Disease
Phase N/A · 6 location(s) · Yale University · NCT03334292
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Phase N/A · 2 location(s) · Sanford Health · NCT01793168
Cardiovascular Risk in Children With Chronic Conditions Study
Phase N/A · 3 location(s) · Semmelweis University · NCT07086989
The Myelin Disorders Biorepository Project
Phase N/A · 23 location(s) · Children's Hospital of Philadelphia · NCT03047369
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
Phase N/A · 1 location(s) · Second Affiliated Hospital, School of Medicine, Zhejiang Uni · NCT04965545
Spanish Registry of Autoimmune and Cholestatic Liver Diseases (ColHai)
Phase N/A · 1 location(s) · Asociación Española para el Estudio del Hígado · NCT06767605
French Wilson Disease Registry
Phase N/A · 1 location(s) · Fondation Ophtalmologique Adolphe de Rothschild · NCT05231876
Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
NA · 3 location(s) · Nordlandssykehuset HF · NCT06273644
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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.