|
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Clinical Trials Information presented on Clinical Trials Search isn't designed to be a substitute for certified healthcare advice, travels to or professional assistance using a genuine medical doctor. We are not physicians. Always confer with your dr. about Genetics and Clinical Characteristics of Bardet-Biedl Syndrome conditions. Clinical Trials Search.org is a site devoted to listing clinical research studies in human subjects. Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Clinical research trials and Genetics and Clinical Characteristics of Bardet-Biedl Syndrome medical trials happen in hundreds of places across the United States. A clinical trial or clinical study is a research project with human volunteer subjects. Clinical drug trials and pharmaceutical clinical trials usually measure the effectualness of new drugs. The intention of the studies / undertakings is to solve certain human healthcare questions. Clinical trials are a popular manner for mDs, government agencies, and private sector companies to locate treatments for all forms of circumstances, such as Genetics and Clinical Characteristics of Bardet-Biedl Syndrome. Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Clinical Trials and other clinical trials allow for volunteers to undergo medical treatment choices before they are available to the general public. Some times the human subjects get treatment for free of charge, and sometimes they are paid for their time. Occasionally there is a cost for a Genetics and Clinical Characteristics of Bardet-Biedl Syndrome clinical trial. Participants frequently get the best healthcare available for their Genetics and Clinical Characteristics of Bardet-Biedl Syndrome condition. Risks are a reality, nonetheless, and can include extra or frequent physician trips, medical risks (possibly life-jeopardising), and/or the treatment being ineffective. Trials are federally governed with exacting guidelines to protect clinical trials subjects.
|
|
|
|
|
|
|
Home > "G" Clinical Trials Conditions > Genetics and Clinical Characteristics of Bardet-Biedl Syndrome  Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
For Condition:
Status: Recruiting
Sponsor(s): National Human Genome Research Institute (NHGRI) ,
Synopsis: 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 at 1, 2, and 3 hours after drinking the solution. -Complete eye examination to look for retinal changes and to assess vision, and, if medically needed, an examination of the ear, nose, and throat to check for hearing and breathing abnormalities. -Tests of learning ability in patients over 5 years of age. For younger patients, a parent is asked about the child's development. -Ultrasound study of the ovaries and uterus in females and of the testes in males. -Photographs of the face, hands, feet, body, and genitalia, if the patient agrees. -Meeting with investigators and a genetic counselor for review of test findings when the studies are completed. Relatives of patients have a complete medical and family history and physical examination. Blood is drawn for assessment of kidney, liver, heart, and hormonal function and for genetic study and other research purposes. Relatives over 5 years of age may have tests of learning ability and cognition. For younger patients, a parent is asked about the child's development. Relatives meet with investigators and a genetic counselor for review of test findings when the studies are completed.
Details: Although Bardet-Biedl syndrome (BBS) was described more than 80 years ago, there exist little data on the natural history and pathogenesis of the various manifestations of the disorder (obesity, diabetes, learning disabilities, retinopathy). In addition, BBS can be caused by mutations in at least 7 genes and, although it is typically inherited in an autosomal recessive pattern, occasionally exhibits more complex inheritance. We propose to define the physical (body mass, percent and distribution of body fat) and metabolic (hyperglycemia, hyperinsulinemia, serum levels of lipids and adipokines) characteristics of glucose and fat metabolism in a cohort of 300 adult and pediatric patients with BBS. We also propose to characterize the hypogenitalism in these patients, and to determine its relationship, if any, to the increased incidence of obesity in BBS. In addition, we will characterize the retinal dystrophy, renal dysfunction, and the nature of the reported mental retardation/learning disability that may be found in some patients. These findings will be correlated with results of mutation analysis studies with the objective of learning more about the genetic alterations that can underlie obesity and associated organ dysfunction.
Eligibility:
Study Type: Observational, Screening
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION/EXCLUSION CRITERIA: We plan to use the previously published clinical diagnostic criteria for BBS to determine study eligibility of probands. As outlined in that report, we will include patients who present with four of the five primary features and two secondary features. A patient meets the criteria if they have four primary features OR three primary features and two secondary features: PRIMARY FEATURES: Rod-Cone dystrophy Polydactyly Obesity Learning Disabilities Hypogonadism in males Renal Anomalies SECONDARY FEATURES: Speech disorder/delay Strabismus, cataracts, astigmatism Developmental Delay Poly-uria/dipsia (nephrogenic diabetes insipidus) Ataxia, poor coordination, imbalance Spasticity Diabetes mellitus Dental crowding/hypodontia Left ventricular hypertrophy/congenital heart disease Hepatic fibrosis Parents and siblings of eligible probands will also be eligible. Unaffected sibs may be used as controls. Controls will not be recruited from the general population; instead, results of testing will be compared to data from unaffected siblings or to previously published data obtained from appropriate non-BBS control subjects. We will allow the inclusion of cognitively impaired adults by obtaining a durable power of attorney (DPA) under the guidelines of NIH Policy 'Consent Process in Research Involving Impaired Human Subjects.' Under these guidelines (vide supra) we may also include any child (less than 18yr) whose parent or legal guardian is unable to understand the informed consent process or to give consent for his/her child, and children older than 7 yr who are unable to assent to the study.
Total Enrollment: 300
Location and Contact Information:
National Human Genome Research Institute (NHGRI) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 040123; 04-HG-0123
Study Start Date: February 17, 2004
Record last reviewed: February 6, 2004
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00078091
Related Studies:
Other Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
|
|
|
|
|
|
|
|
