Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
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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 |
| Study Type: | Observational |
| Official Title: | Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders |
| Estimated Enrollment: | 500 |
| Study Start Date: | September 2002 |
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: | Yes |
- 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| Contact: Sandra K Conley, C.R.N.P. | (301) 594-2005 | sconley@mail.nih.gov |
| Contact: Forbes D Porter, M.D. | (301) 435-4432 | fdporter@mail.nih.gov |
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.cc.nih.gov | |
| Principal Investigator: | Forbes D Porter, M.D. | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
More Information
Additional Information:
Publications:
| ClinicalTrials.gov Identifier: | NCT00046202 History of Changes |
| Other Study ID Numbers: | 020311, 02-CH-0311 |
| Study First Received: | September 21, 2002 |
| Last Updated: | April 2, 2013 |
| 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 |
Additional relevant MeSH terms:
|
Lipidoses Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors |
Genetic Diseases, Inborn Lipid Metabolism Disorders Metabolic Diseases |
ClinicalTrials.gov processed this record on June 18, 2013