Study of Inborn Errors of Cholesterol Synthesis and Related Disorders - Full Text View

Purpose

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

Lipoidosis

Genetics Home Reference related topics:

cholesteryl ester storage disease congenital hemidysplasia with ichthyosiform erythroderma and limb defects Farber lipogranulomatosis long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency mitochondrial trifunctional protein deficiency primary carnitine deficiency Smith-Lemli-Opitz syndrome

MedlinePlus related topics:

Cholesterol

Drug Information available for:

Cholest-5-en-3-ol (3beta)-

U.S. FDA Resources

Study Type:	Observational

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

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment:	300
Study Start Date:	September 2002

Detailed Description:

Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is 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, HEM 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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00046202

Contacts


Contact: Patient Recruitment and Public Liaison Office	(800) 411-1222	prpl@mail.cc.nih.gov

Contact: TTY	1-866-411-1010

Locations


United States, Maryland
	National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
	Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

More Information

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

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
First Received:	September 21, 2002
Last Updated:	July 19, 2008
ClinicalTrials.gov Identifier:	NCT00046202
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Smith-Lemli-Opitz Syndrome

Sterol

Mutations

Dysmorphology

Mental Retardation

Inborn Errors of Cholesterol Synthesis

Smith-Lemli-Optiz Syndrome

Lathosterolosis

Desmosterols

CHILD Syndrome

Greenberg Dysplasia

X Linked Dominant Chrondrodysplasia

Study placed in the following topic categories:

Lipid Metabolism, Inborn Errors

Mental Retardation

Metabolism, Inborn Errors

Opitz syndrome

Metabolic Diseases

Genetic Diseases, Inborn

Lipidoses

Metabolic disorder

Smith-Lemli-Opitz Syndrome

Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on November 20, 2008

Sponsored by:	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00046202