Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
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|ClinicalTrials.gov Identifier: NCT00046202|
Recruitment Status : Recruiting
First Posted : September 23, 2002
Last Update Posted : October 22, 2020
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.
|Condition or disease|
|Lysosomal Storage Disease Cholesterol Metablism|
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders|
|Actual Study Start Date :||September 19, 2002|
subjects in whom no disorder of cholesterol is suspected related to affected individuals
subjects suspected of cholesterol disorder
subjects in whom a disorder of cholesterol metabolism is suspected
- sample collection [ Time Frame: event driven upon enrollment ]collect sample to study rare manifestations or disease
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00046202
|Contact: Simona E Bianconi, M.D.||(301) firstname.lastname@example.org|
|Contact: Forbes D Porter, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Forbes D Porter, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|