Recruiting
Phase 2

Cholesterol & Antioxidant

Sponsor:

University of Colorado, Denver

Code:

NCT01773278

Conditions

Smith-Lemli-Opitz Syndrome

Cone-Rod Dystrophy

Hearing Loss

Eligibility Criteria

Sex: All

Age: 0 - 65

Healthy Volunteers: Not accepted

Interventions

Antioxidants

Cholesterol

Study Details

Brief 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.

Conditions

Smith-Lemli-Opitz Syndrome

Cone-Rod Dystrophy

Hearing Loss

Study ID

NCT01773278

Start date

Dec, 2008

Status verified date

May, 2024

Completion date

Dec, 2025

Anticipated

Primary completion date

Dec, 2025

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 65

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

100 participants

Anticipated

Allocation

Non randomized

Intervention Model

Single group

Primary purpose

Treatment

Interventions and Outcome Measures

Arms

experimental: antioxidant effects on retinal function

Patients with SLOS will be treated with both cholesterol supplementation and antioxidants. Retinal function will be followed by serial electroretinogram (ERG) testing and pigmentary retinopathy will be followed by Serial Ophthalmologic exams under anesthesia

experimental: antioxidant effects on hearing

Patients with SLOS will be treated with cholesterol and antioxidant medication and their hearing will be followed by serial brainstem audiometry (ABR)

experimental: Antioxidant effect on Oxysterols

Patients with SLOS will be treated with antioxidants and cholesterol. Blood oxysterol levels will be measured. Future focus will be on being able to use oxysterol levels to regulate antioxidant doses, and to determine which particular antioxidants might have the most benefit in lowering oxysterols

Interventions

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.

Cholesterol

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

Primary outcome measure

  • Change in Electroretinogram (ERG) results over time [ Time Frame: 1-2 year ]

Central Contacts and Locations

Central contacts

Ellen R Elias, MD

720 777-5401ellen.elias@childrenscolorado.org

Locations

Children's Hospital Colorado

Recruiting

Aurora, Colorado, United States, 80045

Principal Investigator:

Ellen R Elias, MD

More Information

Sponsor

University of Colorado, Denver

Last update posted

May 8, 2024

Last verified

May, 2024

Keywords

  • Antioxidant treatment
  • Oxysterols
  • Cholesterol deficiency
  • Accumulation of 7-dehydrocholesterol
  • electroretinogram (ERG)
  • Auditory Brainstem Response (ABR)

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Colorado, Denver on 2024-05-08.