Protocol Details

Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	02-CH-0311
Sponsoring Institute	National Institute of Child Health and Human Development (NICHD)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	None
Keywords	Inborn Error of Cholesterol Synthesis; Cholesterol; Lysosomal Storage; Natural History
Recruitment Keyword(s)	Inborn Errors of Cholesterol Synthesis; Smith-Lemli-Optiz Syndrome; Lathosterolosis; Desmosterols; CHILD Syndrome; Greenberg Dysplasia; X Linked Dominant Chrondrodysplasia
Condition(s)	Lysosomal Storage Disease; cholesterol metabolism
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Child Health and Human Development

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.

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Eligibility

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 proband with a suspected inborn error of cholesterol synthesis. No exclusions will be made based on gender, ethnicity or age.

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Citations:

Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet. 2000 May;37(5):321-35.

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.

Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Miller Wolf L, 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.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Forbes D. Porter, M.D. National Institute of Child Health and Human Development (NICHD) NIHBC 10 - CRC BG RM 5-2571 10 CENTER DR BETHESDA MD 20892 (301) 435-4432 fdporter@mail.nih.gov	Nicole M. Farhat, C.R.N.P. National Institute of Child Health and Human Development (NICHD) BG 6001 EXECUTIVE BLVD NSC RM CORR5.4 6001 EXECUTIVE BLVD ROCKVILLE MD 20852 (301) 496-9135 nicole.farhat@nih.gov	Office of Patient Recruitment National Institutes of Health Clinical Center (CC) Building 61, 10 Cloister Court Bethesda, Maryland 20892 Toll Free: 1-800-411-1222 Local Phone: 301-451-4383 TTY: TTY Users Dial 7-1-1 ccopr@nih.gov

Clinical Trials Number:

NCT00046202

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