TREATMENT OF CHOLESTEROL DEFECT IN SMITH LEMLI OPITZ SYNDROME

$28,750M01FY2000RRNIH

Children'S Hospital Boston, Boston MA

Investigators

Linked publications & trials

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Abstract

Children with Smith-Lemli-Opitz (SLO) Syndrome have a severe cholesterol deficiency, caused by an inborn error of metabolism in the cholesterol synthetic pathway. Children with SLO have multiple birth defects and complex medical problems including severe growth failure, mental retardation, endocrine, dermatologic, hematologic, and behavioral problems. This protocol involves giving pure cholesterol in the form of a concentrated suspension, in an effort to raise cholesterol levels, and lower accumulation of the precurson, 7-dehydrocholesterol. The cholesterol is administered enterally (po or pg). Cholesterol deficiency has effects on multiple organ systems. Patients on protocol will be followed to determine if cholesterol treatment effects growth, development, behavior, hematologic, dermatologic and endocrine status.

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