Clinical Trial: Genetics and Clinical Characteristics of Bardet-Biedl Syndrome

Study Status: Terminated
Recruit Status: Terminated
Study Type: Observational




Official Title: Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics

Brief 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