Protocol Details
Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders
This study is NOT currently recruiting participants.
Summary
Number |
02-CH-0311 |
Sponsoring Institute |
National Institute of Child Health and Human Development (NICHD) |
Recruitment Detail |
Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 1 days
Max Age: 99 Years |
Referral Letter Required |
No |
Population Exclusion(s) |
None |
Keywords |
Inborn Error of Cholesterol Synthesis;
Cholesterol;
Lysosomal Storage;
Natural History |
Recruitment Keyword(s) |
Inborn Errors of Cholesterol Synthesis;
Smith-Lemli-Optiz Syndrome;
Lathosterolosis;
Desmosterols;
CHILD Syndrome;
Greenberg Dysplasia;
X Linked Dominant Chrondrodysplasia |
Condition(s) |
Lysosomal Storage Disease;
cholesterol metabolism |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Institute of Child Health and Human Development |
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.
Eligibility
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.
Citations:
Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet. 2000 May;37(5):321-35.
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.
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.
Contacts:
Clinical Trials Number:
NCT00046202