Ignite Creation Date:
2024-05-05 @ 11:33 AM
Last Modification Date:
2024-10-26 @ 9:09 AM
Study NCT ID:
NCT00078091
Status:
TERMINATED
Last Update Posted:
2019-12-04
First Post:
2004-02-18
Brief Title:
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Bardet-Biedl Syndrome Phenotype and Metabolic Characteristics
Status:
TERMINATED
Status Verified Date:
2016-02-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 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 childs 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 childs development Relatives meet with investigators and a genetic counselor for review of test findings when the studies are completed
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 childs 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 childs development Relatives meet with investigators and a genetic counselor for review of test findings when the studies are completed
Detailed Description:
Although the Bardet-Biedl syndrome BBS severe obesity polydactyly learning disabilities retinopathy renal disease and cardiac malformations was described more than 80 years ago it is only over the past few years that extensive data on the natural history and molecular pathogenesis of this complex disorder have been reported We now know that BBS can be caused by mutations in at least 12 genes and although it is typically inherited in an autosomal recessive pattern BBS may occasionally exhibit more complex inheritance In this study we are defining 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 adult and pediatric patients with BBS We are also characterizing the hypogenitalism in BBS and attempting to determine its relationship if any to the incidence of obesity in BBS In addition we are studying the retinal dystrophy the renal dysfunction and the nature of the reported mental retardationlearning disability that is found in many patients We plan to correlate the phenotypic manifestations in our subjects with the results of our mutation analysis studies Our objective is to learn more about the genetic alterations that may underlie the obesity and associated organ dysfunction that characterizes BBS
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 04-HG-0123 | None | None | None |