ClinicalTrials.gov
 Home    Search    Study Topics    Glossary  
 

  Full Text View  
  Tabular View  
  Contacts and Locations  
  No Study Results Posted  
  Related Studies  
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders

This study is currently recruiting participants.
Study NCT00046202.   Last updated on July 19, 2008.   Information provided by National Institutes of Health Clinical Center (CC)

This Tabular View shows the required WHO registration data elements as marked by

Descriptive Information Fields
Brief Title  Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
Official Title  Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders
Brief 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.

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.

Study Phase
Study Type  Observational
Study Design 
Primary Outcome Measure 
Secondary Outcome Measure 
Condition  Lipoidosis
Intervention 
MEDLINE PMIDs 10807690,   11592808,   12116245
Links NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site
Recruitment Information Fields
Recruitment Status  Recruiting
Enrollment  300
Start Date  September 2002
Completion Date
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 proband with a suspected inborn error of cholesterol synthesis. No exclusions will be made based on gender, ethnicity or age.

Gender Both
Ages
Accepts Healthy Volunteers No
Contacts ††
Contact: Patient Recruitment and Public Liaison Office     (800) 411-1222     prpl@mail.cc.nih.gov    
Contact: TTY     1-866-411-1010        
Location Countries  United States
Administrative Information Fields
NCT ID  NCT00046202
Organization ID 020311
Secondary IDs †† 02-CH-0311
Study Sponsor  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborators ††
Investigators 
Information Provided By National Institutes of Health Clinical Center (CC)
Verification Date July 2008
First Received Date  September 21, 2002
Last Updated Date July 19, 2008

 †    Required WHO trial registration data element.
††   WHO trial registration data element that is required only if it exists.




Links to all studies - primarily for crawlers