Clinical trials: Genetic Liver Disorder
Zellweger Syndrome, Peroxisome Biogenesis Disorders
Hydroxychloroquine Administration for Reduction of Pexophagy
A series of N-of-1, crossover, randomized, placebo-controlled, double-blinded trial. Hydroxychloroquine (HCQ) and a crossover to placebo (order is randomized and blinded) will be administered in liquid suspension for 84 days (12…
- Trial name
- HARP (NCT03856866)
- Testing
- Hydroxychloroquine
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- The Hospital for Sick Children
Urea Cycle Disorders
PCORI Urea Cycle Disorder Study
Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain.
- Trial name
- NCT02740153
- Testing
- No Intervention Given
- Where
- United States
- Volunteers
- 187 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Alagille Syndrome
Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Review
Patients who have Alagille Syndrome (AGS) also frequently have blockages (or "stenoses") of their pulmonary arteries. Little is known about the degree or variability of these stenoses, or the effect of this disease on the right…
- Trial name
- NCT01515631
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Stanford University
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
Urea Cycle Disorders
Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Treatment with liver cell infusion for children with urea cycle disorders (UCD).
- Trial name
- NCT01195753
- Testing
- HHLivC
- Where
- 5 sites in United States, Canada
- Volunteers
- 10 people
- Sponsor
- Cytonet GmbH & Co. KG
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
Sickle Cell Disease
Evaluation of the Safety, Tolerability, Pharmacokinetics (PK) and Effects on Liver Iron Concentration of ICL670 Relative to Deferoxamine(DFO).
The safety, tolerability, effects on liver iron concentration and pharmacokinetics of ICL670 is studied in sickle cell disease patients with transfusional hemosiderosis.
- Trial name
- NCT01090323
- Testing
- ICL670
- Where
- 39 sites in United States, Canada and 3 more
- Volunteers
- 185 people
- Sponsor
- Novartis Pharmaceuticals
Childhood Hepatocellular Carcinoma, Papillary Thyroid Cancer
Sorafenib Tosylate in Treating Younger Patients With Relapsed or Refractory Rhabdomyosarcoma, Wilms Tumor, Liver Cancer, or Thyroid Cancer
This phase II trial studies how well sorafenib tosylate works in treating younger patients with relapsed or refractory rhabdomyosarcoma, Wilms tumor, liver cancer, or thyroid cancer.
- Conditions
- Childhood Hepatocellular Carcinoma, Papillary Thyroid Cancer, Previously Treated Childhood Rhabdomyosarcoma, Recurrent Childhood Liver Cancer
- Trial name
- NCT01502410
- Testing
- sorafenib tosylate, pharmacological study, laboratory biomarker analysis
- Where
- 92 sites in United States, Australia and 1 more
- Volunteers
- 20 people
- Sponsor
- National Cancer Institute (NCI)
Ewing Sarcoma, PEComa
Nivolumab (Opdivo®) Plus ABI-009 (Nab-rapamycin) for Advanced Sarcoma and Certain Cancers
This study investigates the safety/toxicity and potential anti-tumor activity of sequential administration of nivolumab and escalating doses of the mammalian target of rapamycin (mTOR) inhibitor nab-rapamycin (ABI-009) in…
- Conditions
- Ewing Sarcoma, PEComa, Epithelioid Sarcoma, Desmoid Tumor
- Trial name
- NCT03190174
- Testing
- Nab-Rapamycin, Nivolumab
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- Sarcoma Oncology Research Center, LLC
Recurrent Colon Cancer, Liver Metastases
Isolated Hepatic Perfusion With Melphalan Followed By Chemotherapy in Treating Patients With Unresectable Colorectal Cancer That is Metastatic to the Liver
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. Combining more than one drug and giving them in different ways may kill more tumor cells.
- Conditions
- Recurrent Colon Cancer, Liver Metastases, Stage IV Rectal Cancer, Recurrent Rectal Cancer
- Trial name
- NCT00019760
- Testing
- floxuridine, leucovorin calcium, melphalan
- Where
- United States
- Sponsor
- National Institutes of Health Clinical Center (CC)
Relapsed Pediatric Solid Tumors, Refractory Pediatric Solid Tumors
MR-guided High Intensity Focused Ultrasound (HIFU) on Pediatric Solid Tumors
The purpose of this study is to determine if Magnetic Resonance guided High Intensity Focused Ultrasound ablative therapy is safe and feasible for children, adolescents, and young adults with refractory or relapsed solid tumors.
- Conditions
- Relapsed Pediatric Solid Tumors, Refractory Pediatric Solid Tumors, Rhabdomyosarcoma, Ewing Sarcoma
- Trial name
- NCT02076906
- Testing
- Magnetic Resonance High Intensity Focused Ultrasound
- Where
- 2 sites in United States
- Volunteers
- 7 people
- Sponsor
- AeRang Kim
COPD, Lung Function Decreased
Permian Health Women's Lung Health Study
The goal of this cross-sectional observational study is to estimate the prevalence of lung function impairment as measured by spirometry in a population of Gambian women aged 15 and older.
- Conditions
- COPD, Lung Function Decreased, Alpha 1-Antitrypsin
- Trial name
- WLHS (NCT06029543)
- Where
- The Gambia
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- Permian Health Lung Institute
Hemochromatosis, Iron Overload
MRI QSM Imaging for Iron Overload
The overall goal of this project is to develop and validate a novel technique for Magnetic Resonance Imaging (MRI)-based Quantitative Susceptibility Mapping (QSM) of the abdomen, for non-invasive assessment of liver iron…
- Trial name
- NCT04631718
- Testing
- Magnetic Resonance Imaging (MRI)-based Quantitative Susceptibility Mapping (QSM)
- Where
- 2 sites in United States
- Volunteers
- 63 people
- Sponsor
- University of Wisconsin, Madison
Alagille Syndrome, Cholestasis
Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease
OBJECTIVES: I. Determine the role of magnesium deficiency in the pathogenesis of decreased serum vitamin D and reduced bone density in children with chronic cholestatic liver disease.
- Conditions
- Alagille Syndrome, Cholestasis, Biliary Atresia
- Trial name
- NCT00007033
- Testing
- magnesium gluconate, magnesium sulfate
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Center for Research Resources (NCRR)
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
Ewing Sarcoma, Gastrointestinal Tumor
A Study of CD45RA+ Depleted Haploidentical Stem Cell Transplantation in Children With Relapsed or Refractory Solid Tumors and Lymphomas
This is a phase I study designed to determine the feasibility of transplantation using a novel transplant approach that employs a two-stage haploidentical cell infusion following myeloablative conditioning.
- Conditions
- Ewing Sarcoma, Gastrointestinal Tumor, Germ Cell Tumor, Hepatic Tumor
- Trial name
- NCT01625351
- Testing
- alemtuzumab, fludarabine, sirolimus
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- St. Jude Children's Research Hospital
Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
INcreased Sun Exposure Without Pain In Research Participants With EPP or XLP
To investigate the efficacy of MT-7117 on time to onset and severity of first prodromal symptoms (burning, tingling, itching, or stinging) associated with sunlight exposure in adults and adolescents with EPP or XLP.
- Trial name
- INSPIRE (NCT06144840)
- Testing
- Dersimelagon
- Where
- 35 sites in United States, Australia and 9 more
- Volunteers
- 165 people
- Sponsor
- Tanabe Pharma America, Inc.
Emphysema, Lung Diseases, Obstructive
Characterization of the Pathobiology of Early Lung Destruction in Alpha 1-Antitrypsin Deficient Individuals
Alpha 1-antitrypsin-deficient individuals develop severe destructive lung disease much earlier and their lung function declines faster than the general population of individuals with chronic obstructive lung disease.
- Conditions
- Emphysema, Lung Diseases, Obstructive, Alpha 1-Antitrypsin Deficiency
- Trial name
- NCT00001462
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Hepatitis B, Hepatocellular Carcinoma
Genetic Polymorphisms of Interleukin-1B and TNF-A and HBV-Related Hepatocellular Carcinoma
By detecting polymorphisms of IL-1β and TNF-α,this study aims to find the effects of cytokine gene polymorphisms(and their interaction) on susceptibility and severity of HBV-related HCC.
- Conditions
- Hepatitis B, Hepatocellular Carcinoma, Chronic Liver Disease
- Trial name
- NCT00629486
- Testing
- Polymorphism of IL-1 beta and TNF-alpha
- Where
- 2 sites in Taiwan
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Kaohsiung Medical University Chung-Ho Memorial Hospital
Alagille Syndrome
A Maralixibat Expanded Access Program for Patients With Cholestatic Pruritus Associated With Alagille Syndrome (ALGS)
An open-label, single-arm, multi-centre program providing treatment access to ALGS patients with cholestatic pruritus in the US.
- Trial name
- NCT04530994
- Testing
- maralixibat
- Where
- 14 sites in United States
- Sponsor
- Mirum Pharmaceuticals, Inc.