Sponsor study identifier
Secondary identifiers
observational
344
1 country
1
Study Start
October 9, 2002
Actual (reported)Primary Completion
November 13, 2023
Actual (reported)Study Completion
November 13, 2023
Actual (reported)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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
November 13, 2023
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
September 21, 2002
Actual (reported)September 23, 2002
Actual (reported)October 9, 2002
Actual (reported)November 13, 2023
Actual (reported)November 13, 2023
Actual (reported)sample collection
collect sample to study rare manifestations or disease
event driven upon enrollment
subjects in whom no disorder of cholesterol is suspected related to affected individuals
subjects in whom a disorder of cholesterol metabolism is suspected
Convenience sampling: affected patients and their relatives, samples from biorepositories
Contact the study team to confirm eligibility.
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet. 2000 May;37(5):321-35. doi: 10.1136/jmg.37.5.321.
Nwokoro NA, Wassif CA, Porter FD. Genetic disorders of cholesterol biosynthesis in mice and humans. Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226.
Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am J Med Genet. 2002 Jun 15;110(2):95-102. doi: 10.1002/ajmg.10510.
This protocol allows for a wide range of samples including tissue from biopsy or autopsy, blood (plasma, serum, whole blood, blood cells, CSF, urine and other tissue such as hair or scales.
Forbes D Porter, M.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
344 participants (actual enrollment reported by the registry).
First Submitted
September 21, 2002
First Posted
September 23, 2002
Study Start
October 9, 2002
Actual (reported)Investigating the Production of Lipoproteins and Acetyl-CoA During a Ketogenic Diet
Primary Completion
November 13, 2023
Actual (reported)Study Completion
November 13, 2023
Actual (reported)Last Updated
August 12, 2026
Record last verified: 2026-08
Data will be shared in aggregate related to the disorders represented by accrual.
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Source: ClinicalTrials.gov.
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