Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)

PHASE2RecruitingINTERVENTIONAL
Enrollment

100

Participants

Timeline

Start Date

December 31, 2008

Primary Completion Date

December 31, 2025

Study Completion Date

December 31, 2025

Conditions
Smith-Lemli-Opitz SyndromeCone-Rod DystrophyHearing Loss
Interventions
DRUG

Antioxidants

Patients will be prescribed the drug DEKAS plus at a dose based on age and weight. The effects of the treatment will be monitored by serial ERG, ABR, oxysterol levels and clinical findings. Blood levels of 25-Oh vitamin D will be monitored to prevent toxicity.

DRUG

Cholesterol

Patients with SLOS typically have cholesterol deficiency. They will be treated with cholesterol supplementation to keep cholesterol levels \> 100 mg/dl if possible

Trial Locations (1)

80045

RECRUITING

Children's Hospital Colorado, Aurora

All Listed Sponsors
lead

University of Colorado, Denver

OTHER