Clinical trials: Genetic Liver Disorder
Autoimmune Lymphoproliferative Syndrome, Autoimmune Cytopenia
Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
The main objective of this study is to generate diagnosis and therapeutic-decision tools through the identification of molecular causes of PIDs with autoimmunity/inflammation and the variability in disease outcome at the…
- Conditions
- Autoimmune Lymphoproliferative Syndrome, Autoimmune Cytopenia, Autoimmune Diseases, Autoimmune Anemia
- Trial name
- ATRACTion (NCT04902807)
- Testing
- Collection of samples
- Where
- France
- Volunteers
- 325 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Beta Thalassemia Major Anemia
The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalassemia Major
Beta Thalassemia is a major public health problem in Mediterranean countries.In Egypt, it is considered as the most common chronic hemolytic anemia.one of the major complications in this inherited disorder is iron overload which…
- Trial name
- NCT02984475
- Testing
- Metformin
- Where
- 2 sites in Egypt
- Volunteers
- 60 people
- Sponsor
- Cairo University
Lysosomal Acid Lipase Deficiency
A Study to Identify and Characterize LAL-D Patients in High-risk Populations
The objective of this study is to determine the frequency of Lysosomal Acid Lipase Deficiency (LAL D) by lysosomal acid lipase (LAL) enzyme activity assay in patients who are considered to be at risk.
- Trial name
- NCT02345421
- Where
- 15 sites in United States
- Volunteers
- 640 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Diabetes Mellitus, Type 1
A Research Trial of Aralast NP in New Onset Diabetes (RETAIN) - Part II
Aralast NP (alpha-1 antitrypsin, AAT), an alpha-1 proteinase inhibitor (human), was the drug to be tested in this clinical trial.
- Trial name
- RETAIN (NCT01183455)
- Testing
- Aralast NP
- Where
- 15 sites in United States
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Cystic Fibrosis, Immunologic Deficiency Syndrome
Natural History of Noncirrhotic Portal Hypertension
Background: Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs.
- Conditions
- Cystic Fibrosis, Immunologic Deficiency Syndrome, Turner Syndrome, Congenital Hepatic Fibrosis
- Trial name
- NCT02417740
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Liver Fibrosis
Non-invasive Assessment of Liver Fibrosis in a French Cohort of Pediatric Patients With Type III Glycogen Storage Disease: Current State and Perspectives
Patients with type III glycogen storage disease (GSDIII) can develop liver fibrosis, which can be complicated by liver failure or even hepatocellular carcinoma.
- Trial name
- HEPAGLY (NCT07303140)
- Where
- France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Strasbourg, France
Wilson Disease
Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease
The study will evaluate the efficacy and safety of ALXN1840 (formerly called WTX101) administered for 48 weeks compared to standard of care (SoC) in Wilson Disease (WD) participants aged 12 and older in the Primary Evaluation…
- Trial name
- NCT03403205
- Testing
- ALXN1840, SoC Therapy
- Where
- 56 sites in United States, Australia and 20 more
- Volunteers
- 214 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Erythropoietic Protoporphyria
Pharmacokinetics of Afamelanotide in Erythropoietic Protoporphyria Patients
The purpose of this study is to evaluate the concentration of afamelanotide in serum after the administration of afamelanotide in adolescent and adult EPP patients.
- Trial name
- NCT06388642
- Testing
- Afamelanotide 16mg implant
- Where
- 2 sites in Belgium, Netherlands
- Volunteers
- 28 people
- Sponsor
- Clinuvel Europe Limited
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxifying of ammonia.
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency (Disorder), Urea Cycle Disorders, Inborn
- Trial name
- NCT06255782
- Testing
- ECUR-506
- Where
- 12 sites in United States, Australia and 2 more
- Volunteers
- 20 people
- Sponsor
- iECURE, Inc.
Alagille Syndrome
Positional Cloning of the Gene(s) Responsible for Alagille Syndrome
The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach.
- Trial name
- NCT00001642
- Where
- United States
- Volunteers
- 225 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Heart Transplantation, Kidney Transplantation
Effects of Donor and Recipient Genetic Expression on Heart, Lung, Liver, or Kidney Transplant Survival
Activity of genes in donor tissues that are involved in inflammation are thought to be involved with early organ dysfunction, increased immune responses in transplant recipients, and organ rejection.
- Conditions
- Heart Transplantation, Kidney Transplantation, Liver Transplantation, Lung Transplantation
- Trial name
- NCT00531921
- Where
- 5 sites in United States
- Volunteers
- 313 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
HIV Infection, Hepatitis B
Hepatitis B Vaccine Genetics: A Substudy of ATN 024 and ATN 025
This laboratory-based substudy of an effectiveness trial of two Hepatitis B vaccines in HIV-negative youths is being done to evaluate the genetic contribution to the individualized immune response.
- Trial name
- NCT00142740
- Where
- 4 sites in United States
- Volunteers
- 337 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Zellweger Spectrum Disorder
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort. The objective of this study is to gather information so the investigators can: 1.
- Trial name
- ZSDvision (NCT06190626)
- Where
- 3 sites in United States, Canada
- Volunteers
- 30 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Wilson Disease
Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
The primary objective of the study is to determine the relevance and appropriateness of outcome assessments, including biomarkers, within the Wilson disease population to inform study design and endpoint selection for future…
- Trial name
- NCT04531189
- Where
- 6 sites in United States, Germany
- Volunteers
- 16 people
- Sponsor
- Ultragenyx Pharmaceutical Inc