RecruitingPhase 2NCT01773278

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

Sponsor

University of Colorado, Denver

Enrollment

100 participants

Start Date

Dec 1, 2008

Study Type

INTERVENTIONAL

Conditions

Hearing Loss Smith-Lemli-Opitz Syndrome Cone-Rod Dystrophy

Summary

Patients with biochemically confirmed SLOS are being treated with cholesterol supplementation and antioxidant medication. They are carefully monitored with visits to clinic, laboratory testing including cholesterol and 7-dehydrocholesterol levels, vitamin levels, blood counts and liver and kidney function. On a serial basis, no more often than once a year, the patients undergo a series of tests under anesthesia, including electroretinogram (ERG), brainstem audiometry (ABR), and ophthalmologic exam under anesthesia to follow pigmentary retinopathy.

Eligibility

Max Age: 65 Years

Plain Language Summary

Simplified for easier understanding

This study evaluates the effects of cholesterol supplementation and antioxidant therapy in patients with Smith-Lemli-Opitz Syndrome (SLOS) — a rare genetic disorder that affects the body's ability to produce cholesterol. Cholesterol is essential for normal development; people with SLOS have very low levels and may benefit from supplementation. You may be eligible if: - You have a clinical diagnosis of Smith-Lemli-Opitz Syndrome - You have elevated levels of 7-dehydrocholesterol and 8-dehydrocholesterol (the abnormal cholesterol precursors) - You are able to travel to Children's Hospital Colorado annually - You have insurance coverage for ERG/ABR studies You may NOT be eligible if: - You do not have detectable elevated cholesterol precursors (7-DHC/8-DHC) - You have an allergy to antioxidant medication - You are over 65 years old Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

DRUGAntioxidants

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.

DRUGCholesterol

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

Locations(1)

Children's Hospital Colorado

Aurora, Colorado, United States

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NCT01773278

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