Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

Boston Children's Hospital

Status and phase: Completed; Phase 2; Phase 1

Conditions: Smith-Lemli-Opitz Syndrome

Treatments: Drug: crystalline cholesterol oil-based suspension

Study type: Interventional

Funder types: Other

Identifiers

NCT00272844

03-11-189R

Details and patient eligibility

About

The purpose of this study is to determine whether supplementation with an oil-based cholesterol suspension will correct the biochemical abnormalities in cholesterol and its precursors in individuals with the Smith-Lemli-Opitz syndrome.

Full description

This study involves treating individuals with the Smith-Lemli-Opitz syndrome, a rare inborn error of cholesterol metabolism, with supplemental cholesterol to determine it effects on biochemical sterol metabolites, growth, neuropsychological development, ophthalmologic and auditory function, ERG (electroretinogram) parameters, and CNS metabolites as determined by brain MRS-imaging. Safety of the supplemental cholesterol suspension is monitored by tests of hematologic, renal, and liver function at periodic intervals. There is also a substudy that is investigating potential genotype-phenotype correlations, as well as another that studies biochemical parameters of light sensitivity in cultured skin fibroblasts from affected patients.

Enrollment: 23 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Biochemical confirmation of sterol defect associated with Smith-Lemli-Opitz syndrome

Exclusion criteria

• Inability to tolerate crystalline cholesterol
• Inability to travel to Boston 3-4 times/year based on age

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

23 participants in 1 patient group

Cholesterol supplementation

Experimental group

Treatment:

Drug: crystalline cholesterol oil-based suspension