Clinical trials: Genetic/Metabolic Liver Diseases, open to volunteers
Acute Liver Failure, Wilson Disease
Daily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in Children
Wilson disease in children has a varied presentation. Wilson disease with acute liver failure is associated with very high mortality and morbidity.
- Trial name
- NCT06698991
- Testing
- Plasma Exchange, Standard Medical Treatment
- Where
- India
- Volunteers
- 20 people
- Sponsor
- Institute of Liver and Biliary Sciences, India
Wilson Disease
Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients
Wilson's disease (WD) is a genetic disorder characterized by an accumulation of copper in the body, mainly in the liver and brain.
- Trial name
- VARCUWIC (NCT06430359)
- Testing
- urine and blood test
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Hospices Civils de Lyon
Elastography, Shear Wave Elastography
HIBOC = Hepatic Imaging Biomarkers in Obese Children
The goal of this prospective, diagnostic observational study is to learn about how imaging based markers for components of liver disease appear in children with obesity.
- Conditions
- Elastography, Shear Wave Elastography, Shear Wave Dispersion, Attenuation Imaging
- Trial name
- NCT06463223
- Where
- Sweden
- Volunteers
- 300 people
- Sponsor
- Sahlgrenska University Hospital
Wilson Disease
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up
- Trial name
- NCT04965545
- Testing
- low copper diet
- Where
- China
- Volunteers
- 1,000 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Wilson Disease
Natural History of Wilson Disease
The purpose of the registry/repository is to provide a mechanism to store data and specimens to support the conduct of future research about Wilson disease (WD).
- Trial name
- NCT03334292
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 300 people
- Sponsor
- Yale University
Wilson Disease
Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study
This is a prospective study that will determine the optimal timing for 24-hour urinary copper excretion (UCE) measurement after temporary discontinuation of standard therapies in Wilson Disease (WD) patients.
- Trial name
- NCT07301216
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Yale University
Wilson Disease
French Wilson Disease Registry
This registry concerns adults and children with Wilson's disease. The collection of a large amount of data will allow a better understanding of the epidemiology of this rare disease, in particular the age of onset according to…
- Trial name
- WIL-FR (NCT05231876)
- Testing
- Recording of pathology-related information on the Wilson Register
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Pompe Disease
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07750990
- Testing
- S-606001, ERT
- Volunteers
- 60 people
- Sponsor
- Shionogi
Genetic/Metabolic Liver Diseases
China Registry for Genetic / Metabolic Liver Diseases
CR-GMLD registry started on June 13, 2015 to collect cases of genetic/metabolic liver diseases from tertiary or secondary hospitals in mainland China.
- Trial name
- NCT03131427
- Testing
- Standard of care
- Where
- 12 sites in China
- Volunteers
- 20,000 people
- Sponsor
- Beijing Friendship Hospital
Porphyria, Acute Intermittent
Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
The main aim of this clinical trial is to learn about the effect of carbohydrate-rich diet as a treatment for AIP (acute intermittent porphyria).
- Trial name
- NCT06273644
- Testing
- Carbohydrates
- Where
- 3 sites in Norway, Sweden
- Volunteers
- 50 people
- Sponsor
- Nordlandssykehuset HF
Metabolic Dysfunction-Associated SteatoHepatitis (MASH)
A Precision Medicine Approach Using Gene Silencing to Treat a Chronic Liver Disease Called Metabolic Dysfunction-Associated Steatohepatitis (MASH) in Adult Participants at Increased Genetic Risk for This Condition
This study is researching an investigational drug, ALN-HSD called "study drug". This study is focused on participants who are known to have Metabolic dysfunction-Associated SteatoHepatitis (MASH).
- Trial name
- NASHGEN-2 (NCT05519475)
- Testing
- ALN-HSD
- Where
- 71 sites in United States, Japan and 2 more
- Volunteers
- 120 people
- Sponsor
- Regeneron Pharmaceuticals
Hepatitis Autoimmune Disease, Primary Biliary Cholangitis (PBC)
Spanish Registry of Autoimmune and Cholestatic Liver Diseases (ColHai)
The purpose of the registry is to know the status of primary biliary colgantis, autoimmune hepatitis, primary sclerosing cholagitis and genetic cholestatic diseases in Spain.
- Conditions
- Hepatitis Autoimmune Disease, Primary Biliary Cholangitis (PBC), Primary Sclerosing Cholangitis (PSC), Cholestatic Genetic Diseases
- Trial name
- ColHai (NCT06767605)
- Where
- Spain
- Volunteers
- 5,000 people
- Sponsor
- Asociación Española para el Estudio del Hígado
Pompe Disease
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
The purpose of this study is to evaluate the safety, pharmacodynamics (PD), and exploratory clinical efficacy of S-606001 in adult participants with LOPD as an add-on to ERT.
- Trial name
- NCT07123155
- Testing
- S-606001
- Where
- 28 sites in United States, Belgium and 7 more
- Volunteers
- 45 people
- Sponsor
- Shionogi
Wilson Disease
Spanish Wilson Disease Registry
The main objective and purpose of the Registry is to know the current status of Wilson Disease in Spain. As secondary objectives, the prevalence and incidence of the disease will be analysed.
- Trial name
- NCT06466291
- Where
- Spain
- Volunteers
- 600 people
- Sponsor
- Asociación Española para el Estudio del Hígado
Pancreatic Cancer, Thyroid Cancer
Integrated Cancer Repository for Cancer Research
The iCaRe2 is a multi-institutional resource created and maintained by the Fred \& Pamela Buffett Cancer Center to collect and manage standardized, multi-dimensional, longitudinal data and biospecimens on consented adult cancer…
- Conditions
- Pancreatic Cancer, Thyroid Cancer, Lung Cancer, Esophageal Cancer
- Trial name
- iCaRe2 (NCT02012699)
- Where
- 42 sites in United States
- Volunteers
- 999,999 people, healthy volunteers welcome
- Sponsor
- University of Nebraska
Morbid Obesity
Metabolic Responses to Bariatric Surgery
Research the genetic and biomechanical markers of human adipose tissue on patients with morbid obesity. Additional tissue/fluid collection is also gathered during the time of surgery.
- Trial name
- NCT02024542
- Testing
- Surgery
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- University of California, Davis
Wilson's Disease
A Registered Cohort Study on Wilson's Disease
The aim of this study is to determine the clinical spectrum and natural progression of Wilson's Disease in a prospective multicenter natural history study, to assess the clinical, genetic, epigenetic features and biomarkers of…
- Trial name
- NCT04012658
- Testing
- No intervention
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Wan-Jin Chen
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Wilson Disease, D-Penicillamine
Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity
Wilson's disease is a genetic disorder, resulting from an anomaly present on the ATP7B gene located on chromosome 13, causing a progressive accumulation of copper in various organs such as the liver, nervous system and cornea…
- Conditions
- Wilson Disease, D-Penicillamine, Effect of D-penicilline on Cutaneous Elastity of Wilson's Patient
- Trial name
- WILDERME (NCT06945081)
- Testing
- Preparation of forearm molds with SILFLO® silicone
- Where
- 2 sites in France
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Erythropoietic Protoporphyria
HELIOS: Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP or XLP
This is an open-label, long-term extension study to investigate the safety, tolerability and efficacy of DISC-1459 in participants with EPP.
- Trial name
- NCT05883748
- Testing
- DISC-1459
- Where
- 26 sites in United States, Australia and 9 more
- Volunteers
- 230 people
- Sponsor
- Disc Medicine, Inc