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NCT00078091 · ClinicalTrials.gov registry record
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
A clinical trial, sponsored by National Human Genome Research Institute (NHGRI).
- Terminated
- Registry status
- 194
- Enrollment target
NCT00078091 is a clinical trial that was terminated before completion, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 194 participants.
The verdict
NCT00078091 was terminated before completion, sponsored by National Human Genome Research Institute (NHGRI).
- TERMINATED
- Registry status
- 194 participants
- Enrollment target
Study Summary
This study will evaluate patients with a rare inherited condition called Bardet-Biedl syndrome . The purpose of the study is to learn more about the genetics and clinical characteristics of this disorder. Patients may have the following problems: polydactyly (extra fingers and toes); retinal dystrophy (changes in the retina that may lead to vision problems, including blindness); obesity and diabetes (overweight and high blood sugar due to failure of body organs to respond to insulin); cognitive dysfunction (difficulties with learning and understanding); hypogenitalism (decreased functioning of the ovaries in women and the testes in men); kidney anomalies (changes in the structure or function of the kidneys); heart disease; and hepatic fibrosis (liver disease). Patients with Bardet-Biedl syndrome may be eligible for this study. First-degree relatives will also be enrolled for certain tests and procedures. Candidates are screened with a review of their medical records, laboratory tests, and x-rays. Patients in this study undergo the following tests and procedures: * Medical and family history and physical examination, including body measurements. * Blood tests to evaluation kidney, liver, heart, and hormonal function, and for genetic studies and other research purposes. * Dual emission x-ray absorptiometry (DEXA) scan to measure the amount of total body fat. For this test, the subject lies on a table for scanning with low-dose X-rays. * Computed tomography (in adults) of the abdomen to measure abdominal fat. CT uses a small amount of radiation to obtain images of internal body structures. * Magnetic resonance imaging (in children) of the abdomen to measure abdominal fat. MRI uses a magnetic field and radio waves to obtain images of internal body structures. * Oral glucose tolerance tests to measure blood glucose and insulin levels. For this test, the patient drinks a glucose (sugar) solution. Blood samples are drawn through an IV catheter before the test begins and
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 194 participants |
| Start Date | 2004-02-17 |
| Est. Completion | 2016-02-05 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00078091
The ClinicalTrials.gov registry entry for NCT00078091 describes a study currently listed as terminated, categorized as an unspecified phase. The registered enrollment target is 194 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.
The record links to 0 conditions, and to 0 interventions.
NCT00078091 reports 0 study locations.
Frequently Asked Questions
What is clinical trial NCT00078091 about?
NCT00078091 is a clinical study titled "Genetics and Clinical Characteristics of Bardet-Biedl Syndrome". This study will evaluate patients with a rare inherited condition called Bardet-Biedl syndrome . The purpose of the study is to learn more about the genetics and clinical characteristics of this disorder. Patients may have the following problems: polydactyly (extra fingers and toes); retinal dystrop...
What is the current status of trial NCT00078091?
This trial is currently terminated. The enrollment target is 194 participants. The study started on 2004-02-17. Estimated completion is 2016-02-05.
Who is sponsoring clinical trial NCT00078091?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
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