Actively Recruiting
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Led by University of Colorado, Denver · Updated on 2024-05-08
100
Participants Needed
1
Research Sites
887 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- Absence of detectable 7-dehydrocholesterol/8-dehydrocholesterol
- Allergy to antioxidant medication
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
Actively Recruiting
Research Team
E
Ellen R Elias, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
3
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