Study of Inborn Errors of Cholesterol Synthesis and Related Disorders

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.

NCT Number	NCT00046202
Lead Sponsor	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions	Lysosomal Storage Disease, Cholesterol Metabolism
Enrollment	344 participants
Start Date	2002-10-09
Primary Completion	2023-11-13 (estimated)
Study Completion	2023-11-13 (estimated)
Updated on ClinicalTrials.gov	2026-08-12