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Positional Cloning of the Gene(s) Responsible for Alagille Syndrome Clinical Trials References presented on Clinical Trials Search is not intended to be a substitute for proven healthcare advice, trips or professional assistance by using a real medical. We aren't mDs. Always confer with your physician about Positional Cloning of the Gene(s) Responsible for Alagille Syndrome conditions. Clinical Trials Search.org is a website devoted to listing clinical research studies in human subjects. Positional Cloning of the Gene(s) Responsible for Alagille Syndrome Clinical research trials and Positional Cloning of the Gene(s) Responsible for Alagille Syndrome medical trials take place in hundreds of localities across the U.S.. A clinical trial or clinical study is a research project with human volunteer subjects. Clinical drug trials and pharmaceutical clinical trials usually evaluate the effectualness of new does drugs. The purpose of the studies / projects is to solve specific human health questions. Clinical trials are a popular way for physicians, government agencies, and private sector companies to discover treatments for all sorts of conditions, such as Positional Cloning of the Gene(s) Responsible for Alagille Syndrome. Positional Cloning of the Gene(s) Responsible for Alagille Syndrome Clinical Trials and other clinical trials permit volunteers to access healthcare treatment choices before they are available to the general public. Some times the subjects recieve professional assistance for without cost, and every now and again they are compensated for their time. Sometimes there is a cost for a Positional Cloning of the Gene(s) Responsible for Alagille Syndrome clinical trial. Subjects often receive the most expert healthcare possible for their Positional Cloning of the Gene(s) Responsible for Alagille Syndrome condition. Risks are a reality, nevertheless, and could include additional or frequent dr. calls, healthcare dangers (perhaps life-jeopardising), and/or the treatment being ineffective. Trials are federally governed with stern guidelines to protect clinical trials subjects.
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Home > "P" Clinical Trials Conditions > Positional Cloning of the Gene(s) Responsible for Alagille Syndrome  Positional Cloning of the Gene(s) Responsible for Alagille Syndrome
Positional Cloning of the Gene(s) Responsible for Alagille Syndrome
For Condition: Alagille Syndrome
Status: Completed
Sponsor(s): National Human Genome Research Institute (NHGRI) ,
Synopsis: The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes within this region which are, by definition, candidate genes for the disease. In a collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase chromosomes and genomic DNA from affected individuals will be studied for subchromosomal deletions and for mutations in the candidate genes. Characterization of genes involved in Alagille syndrome could provide important insight into the pathophysiology of the disease, the development of normal liver and treatment of this disease. Recently, we and others found that mutations in Jagged1, a Notch1 receptor are responsible for Alagille Syndrome.
Details: The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes within this region which are, by definition, candidate genes for the disease. In a collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase chromosomes and genomic DNA from affected individuals will be studied for subchromosomal deletions and for mutations in the candidate genes. Characterization of genes involved in Alagille syndrome could provide important insight into the pathophysiology of the disease, the development of normal liver and treatment of this disease.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: All enrolled affected subjects, whose samples will be analyzed in this study, must meet the criteria for the clinical diagnosis of Alagille Syndrome (Syndromic Bile Duct Paucity) which include liver biopsy findings consistent with Alagille Syndrome and at least 3 of the 5 primary clinical criteria: cholestasis, characteristic face, posterior embryotoxon, "butterfly" vertebrae and cardiac findings.
Total Enrollment: 225
Location and Contact Information:
National Human Genome Research Institute (NHGRI)
Bethesda, Maryland, 20892
United States
Additional Information:
Study ID Numbers: 970122; 97-HG-0122
Study Start Date: May 23, 1997
Record last reviewed: May 20, 1999
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00001642
Other Alagille Syndrome Studies:
1. Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease
2. Positional Cloning of the Gene(s) Responsible for Alagille Syndrome
Related Studies:
Other Alagille Syndrome Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Positional Cloning of the Gene(s) Responsible for Alagille Syndrome
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