Protocol Number: 02-CH-0311

Title:

Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders

Number:

02-CH-0311

Summary:

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.

Sponsoring Institute:

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility 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.

Special Instructions: Currently Not Provided

Keywords:

Smith-Lemli-Opitz Syndrome

Sterol

Mutations

Dysmorphology

Mental Retardation

Recruitment Keywords:

Inborn Errors of Cholesterol Synthesis

Smith-Lemli-Optiz Syndrome

Lathosterolosis

Desmosterols

CHILD Syndrome

Greenberg Dysplasia

X Linked Dominant Chrondrodysplasia

Conditions:

Lipoidosis

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet. 2000 May;37(5):321-35. Review. PMID: 10807690

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. Review. PMID: 11592808

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. PMID: 12116245

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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