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Home > "S" Clinical Trials Conditions > Study of Inborn Errors of Cholesterol Synthesis and Related Disorders  Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
For Condition: Lipoidosis
Status: Recruiting
Sponsor(s): National Institute of Child Health and Human Development (NICHD) ,
Synopsis: This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems. People with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia, CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome, may be eligible for this study. People who are carriers of the disorders also may enroll. Participants and family members will provide blood and urine samples, as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery. These tissues may include, for example, gallstones, cataracts, cerebrospinal fluid, amniotic fluid, lymph tissue, and DNA samples. In rare instances, a skin biopsy may be requested to aid in establishing a diagnosis. Medical information will also be gathered from medical records, photographs, and X-rays.
Details: Over the past decade it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome was the prototypical example of a post-squalene inborn error of metabolism; however, this group of disorders now includes lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia (CDPX2), CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome. Due to the extremely rare occurrence of some of these disorders, the full phenotypic spectrum has yet to be defined. The purpose of this protocol is two-fold. First, this protocol will allow for the collection and analysis of clinical specimens and medical information from individuals who have or may have a disorder of cholesterol synthesis. Second, this protocol will allow for collection of DNA and medical information from individuals who have a phenotypic resemblance to known disorders of cholesterol synthesis, or individuals who may be carriers of these disorders.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Subjects will be eligible for this study if they have or are suspected to have an inborn error of cholesterol synthesis or if they are related to a probands with a suspected inborn error of cholesterol synthesis. No exclusions will be made based on gender, ethnicity or age.
Total Enrollment: 100
Location and Contact Information:
National Institute of Child Health and Human Development (NICHD) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 020311; 02-CH-0311
Study Start Date: September 18, 2002
Record last reviewed: June 9, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00046202
Other Lipoidosis Studies:
1. Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
2. SCH-58235 (Ezetimibe) to Treat Homozygous Sitosterolemia
Related Studies:
Other Lipoidosis Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
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