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

NCT01773278 · Status: RECRUITING · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 100

Last updated 2024-05-08

No results posted yet for this study

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

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

Sponsors & Collaborators

  • University of Colorado, Denver

    lead OTHER

Principal Investigators

  • Ellen R Elias, MD · University of Colorado, Denver

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Max Age
65 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2008-12-31
Primary Completion
2025-12-31
Completion
2025-12-31
FDA Drug
Yes

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01773278 on ClinicalTrials.gov