Clinical trials: Genetic Liver Disorder
Neuroblastoma, Medulloblastoma
Molecular-Guided Therapy for Childhood Cancer
The purpose of this study is to test the feasibility (ability to be done) of experimental technologies to determine a tumor's molecular makeup.
- Conditions
- Neuroblastoma, Medulloblastoma, Glioma, Ependymoma
- Trial name
- NCT02162732
- Testing
- Guided Therapy
- Where
- 19 sites in United States, Lebanon
- Volunteers
- 186 people
- Sponsor
- Giselle Sholler
Beta Thalassemia Major
Effect of Spirulina on Serum Hyaluronic Acid in Beta Thalassemic Children With Hepatitis C
Thalassemics can develop liver fibrosis because of iron overload and hepatitis C infection. The latter is the main risk factor for liver fibrosis in transfusion dependent thalassemics.
- Trial name
- NCT02744547
- Testing
- Spirulina
- Where
- Egypt
- Volunteers
- 60 people
- Sponsor
- Tanta University
Childhood Germ Cell Tumor, Extragonadal Germ Cell Tumor
Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. Bone marrow transplantation may allow doctors to give higher doses of chemotherapy and kill more tumor cells.
- Conditions
- Childhood Germ Cell Tumor, Extragonadal Germ Cell Tumor, Head and Neck Cancer, Kidney Cancer
- Trial name
- NCT00002515
- Testing
- filgrastim, carboplatin, thiotepa
- Where
- United States
- Sponsor
- Memorial Sloan Kettering Cancer Center
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Alpha-1-antitrypsin Deficiency, Liver Cirrhosis
Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency
The primary objective is to determine if the medication Carbamazepine, can be used as a therapy for patients with severe liver disease due to Alpha-1-Antitrypsin Deficiency .
- Trial name
- CBZ (NCT01379469)
- Testing
- Drug-Carbamazepine (Tegretol XR)
- Where
- 3 sites in United States
- Volunteers
- 20 people
- Sponsor
- Washington University School of Medicine
Liver Diseases
Genetic Collection Protocol
This study involves the one-time collection of whole blood or saliva samples for the extraction and storage of DNA for use in ongoing and future ChiLDReN studies.
- Trial name
- NCT05272319
- Where
- 13 sites in United States, Canada
- Volunteers
- 171 people
- Sponsor
- Arbor Research Collaborative for Health
Primary Sclerosing Cholangitis (PSC)
Genomics of Primary Sclerosing Cholangitis (PSC)
Primary Sclerosing Cholangitis (PSC) is a progressive liver disorder of unknown cause. Current evidence suggests that genes, the genetic material we inherit from our parents, in combination with environmental factors, likely play…
- Trial name
- NCT01161992
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- Mayo Clinic
Hepatitis C, Hemophilia
Pegasys® Plus Ribavirin in Hemophilic Patients With Hepatitis C Virus Infection
Hemophilic patients are a known high risk groups for acquiring the hepatitis C. The surveillance data from Ministry Of Health in IR.Iran had shown that 60% of them are infected with HCV infection.
- Trial name
- NCT00707772
- Testing
- PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
- Where
- Iran
- Volunteers
- 400 people
- Sponsor
- Baqiyatallah Medical Sciences University
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
Adult Rhabdomyosarcoma, Adult Synovial Sarcoma
Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors
This phase II trial is studying the side effects and how well cixutumumab works in treating patients with relapsed or refractory solid tumors. Monoclonal antibodies, such as cixutumumab, can block tumor growth in different ways.
- Conditions
- Adult Rhabdomyosarcoma, Adult Synovial Sarcoma, Childhood Hepatoblastoma, Childhood Synovial Sarcoma
- Trial name
- NCT00831844
- Testing
- cixutumumab, laboratory biomarker analysis
- Where
- 105 sites in United States, Australia and 1 more
- Volunteers
- 116 people
- Sponsor
- National Cancer Institute (NCI)
Cholesteryl Ester Storage Disease
National Lysosomal Acid Lipase Deficiency Study
Cholesteryl Ester Storage Disease (CESD) is an autosomal recessive lysosomal storage disorder (LSD) caused by mutations in the lysosomal acid lipase gene (LIPA) that markedly reduce lysosomal acid lipase (LAL) activity, leading…
- Trial name
- LAL-D (NCT02372513)
- Where
- Turkey (Türkiye)
- Volunteers
- 810 people
- Sponsor
- Ankara University
Diabetes Mellitus, Hypertension
Evidence-based Laboratory Test Order Sets in Primary Care
Cluster randomised controlled trial to evaluate what the effect is of evidence-based order sets aimed at five indications on the appropriateness of laboratory test ordering in primary care.
- Conditions
- Diabetes Mellitus, Hypertension, Cardiovascular Diseases, Fatigue
- Trial name
- NCT02950142
- Testing
- CPOE with order sets for lab testing, CPOE without order sets for lab testing
- Where
- Belgium
- Volunteers
- 288 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Thalassemia, Iron Overload
Long-term Clinical Study of CN128 in Thalassemia With Sever Liver Iron Overloaded Patients
The safety and efficacy of CN128 is studied in thalassaemia with sever liver iron overloaded patients.
- Trial name
- NCT05355766
- Testing
- CN128 Tablets
- Where
- China
- Volunteers
- 16 people
- Sponsor
- Hangzhou Zede Pharma-Tech Co., Ltd.
Acute Intermittent Porphyria (AIP)
Identification of Acute Intermittent Porphyria Modifying Genes
This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.
- Trial name
- NCT05502133
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
A Study to Investigate PORT-77 Oral Dosing Compared With Placebo in Participants With Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP)
PATHWAY is a Phase 2b/3 clinical study with an Open-Label Extension (OLE). It tests PORT-77 in patients with EPP, EPP2, and XLP.
- Conditions
- Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP), EPP2
- Trial name
- PATHWAY (NCT07820085)
- Testing
- PORT-77
- Where
- 2 sites in United States
- Volunteers
- 225 people
- Sponsor
- Portal Therapeutics, Inc.
Acute Hepatic Porphyria
EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)
The purpose of this study is to characterize the natural history and clinical management of Acute Hepatic Porphyria (AHP) patients with recurring attacks.
- Trial name
- NCT02240784
- Where
- 30 sites in United States, Australia and 18 more
- Volunteers
- 136 people
- Sponsor
- Alnylam Pharmaceuticals
Fatty Liver, Obesity
Genetic Variant in Apolipoprotein C3 Gene and Fatty Liver in Obese Children
In the past decades, obesity in children is much more prevalent in the world. Given the increasing prevalence of pediatric obesity worldwide, fatty liver incidence is on the rise.
- Trial name
- NCT01682655
- Where
- Taiwan
- Volunteers
- 500 people
- Sponsor
- Far Eastern Memorial Hospital
Wilson Disease
A Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease
Wilson's disease (WD), also known as Wilson's disease, is a rare autosomal recessive metabolic disorder caused by a mutation of the copper transport ATPase β (ATP7B) gene located on the long arm of chromosome 13 (13q14.3).
- Trial name
- WD (NCT06650319)
- Testing
- LY-M003
- Where
- China
- Volunteers
- 18 people
- Sponsor
- Chaohui Yu
Chronic Liver Disease, Hepatocellular Carcinoma
Genetic Polymorphisms of TNF-α Promoter and HBV Genotype on Outcome of HBV-Related Chronic Liver Disease
The prognosis of Hepatitis B virus (HBV)infection varies from minimal progressive liver disease to cirrhosis or hepatocellular carcinoma (HCC).Both viral and host genetic factors contribute to disease severity.
- Trial name
- NCT00629668
- Testing
- TNF-alpha and HBV genotype, TNF-alpha and HBV genotypes
- Where
- Taiwan
- Volunteers
- healthy volunteers welcome
- Sponsor
- Kaohsiung Medical University Chung-Ho Memorial 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