Cholesterol and antioxidant treatment for Smith-Lemli-Opitz Syndrome
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
PHASE2 · University of Colorado, Denver · NCT01773278
This study is testing whether adding cholesterol and antioxidant treatments can help people with Smith-Lemli-Opitz Syndrome avoid serious health problems like vision and hearing loss.
Quick facts
| Phase | PHASE2 |
|---|---|
| Study type | Interventional |
| Enrollment | 100 (estimated) |
| Ages | N/A to 65 Years |
| Sex | All |
| Sponsor | University of Colorado, Denver (other) |
| Locations | 1 site (Aurora, Colorado) |
| Trial ID | NCT01773278 on ClinicalTrials.gov |
What this trial studies
This clinical trial focuses on treating patients with Smith-Lemli-Opitz Syndrome (SLOS) using cholesterol supplementation and antioxidant medication. Participants undergo regular monitoring, including laboratory tests and clinical visits, to assess cholesterol levels and overall health. The study aims to evaluate the effectiveness of these treatments in preventing complications associated with SLOS, such as retinal degeneration and hearing loss. Patients will also have periodic tests under anesthesia to monitor their condition over time.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a clinical diagnosis of Smith-Lemli-Opitz Syndrome and elevated levels of specific cholesterol precursors.
Not a fit: Patients without detectable levels of 7-dehydrocholesterol or those allergic to antioxidant medication may not benefit from this study.
Why it matters
Potential benefit: If successful, this treatment could significantly improve the quality of life for patients with SLOS by reducing complications related to the syndrome.
How similar studies have performed: Previous studies have shown promise in treating SLOS with cholesterol supplementation, but the combination with antioxidant treatment is a novel approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Clinical diagnosis of Smith-Lemli-Opitz Syndrome * Elevated levels of 7-dehydrocholesterol and 8-dehydrocholesterol * Must be able to travel to Children's Hospital Colorado annually * Must have insurance coverage for ERG/ABR studies Exclusion Criteria: * absence of detectable 7-dehydrocholesterol/8-dehydrocholesterol * allergy to Antioxidant medication
Where this trial is running
Aurora, Colorado
- Children's Hospital Colorado — Aurora, Colorado, United States (RECRUITING)
Study contacts
- Principal investigator: Ellen R Elias, MD — University of Colorado, Denver
- Study coordinator: Ellen R Elias, MD
- Email: ellen.elias@childrenscolorado.org
- Phone: 720 777-5401
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy, Hearing Loss, Antioxidant treatment, Oxysterols, Cholesterol deficiency, Accumulation of 7-dehydrocholesterol, electroretinogram