Clinical Trial: Study of Inborn Errors of Cholesterol Synthesis and Related Disorders

This study is currently recruiting patients.

Sponsored by: National Institute of Child Health and Human Development (NICHD)
Information provided by: Warren G Magnuson Clinical Center (CC)


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.


MedlinePlus related topics:  Genetic Disorders;   Metabolic Disorders

Study Type: Observational
Study Design: Natural History

Official Title: Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders

Further Study Details: 

Expected Total Enrollment:  100

Study start: September 18, 2002

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.


Genders Eligible for Study:  Both


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.

Location and Contact Information

      National Institute of Child Health and Human Development (NICHD), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting
Patient Recruitment and Public Liaison Office  1-800-411-1222 
TTY  1-866-411-1010 

More Information

Detailed Web Page


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

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.

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.

Study ID Numbers:  020311; 02-CH-0311
Record last reviewed:  July 30, 2004
Last Updated:  November 23, 2004
Record first received:  September 21, 2002 Identifier:  NCT00046202
Health Authority: United States: Federal Government processed this record on 2005-04-08

Cache Date: April 9, 2005