What side effects are associated with this type of intervention?

The most common treatment for Smith-Lemli-Opitz Syndrome (SLOS) is cholesterol supplementation, which aims to replenish deficient cholesterol levels in patients. Known side effects of cholesterol supplementation can include gastrointestinal discomfort, such as nausea, diarrhea, and constipation. Additionally, there may be an increased risk of liver dysfunction, necessitating regular monitoring of liver function tests. It is important for patients to be closely monitored by their healthcare provider to manage any potential adverse effects effectively.

What prior FDA approvals exist?

Currently, there are no specific FDA-approved drugs for the treatment of Smith-Lemli-Opitz Syndrome (SLOS). The primary treatment approach involves cholesterol supplementation to address the deficient cholesterol levels in SLOS patients. This method aims to alleviate some of the symptoms associated with the disorder. Additionally, antioxidant medications are used to manage oxidative stress in these patients. Further research and clinical trials are ongoing to explore more effective treatments for SLOS.

What other types of research exist?

As of 2024, promising novel alternatives to cholesterol supplementation for SLOS patients include gene therapy and enzyme replacement therapy. These approaches aim to address the underlying genetic and enzymatic deficiencies in SLOS, potentially offering more effective and long-term solutions compared to traditional cholesterol supplementation.

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Cholesterol + Antioxidants for Smith-Lemli-Opitz Syndrome

Phase 2

Recruiting

Led By Ellen R Elias, MD

Research Sponsored by University of Colorado, Denver

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Clinical diagnosis of Smith-Lemli-Opitz Syndrome

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 1-2 year

Awards & highlights

Study Summary

This trial is testing a treatment for patients with a rare genetic disease called Smith-Lemli-Opitz syndrome. The treatment involves giving the patients cholesterol and antioxidant medication, and then carefully monitoring them with regular clinic visits and lab tests. Once a year, the patients also undergo a series of tests under anesthesia, to check for any progression of their disease.

Who is the study for?

This trial is for patients with Smith-Lemli-Opitz Syndrome (SLOS), who have high levels of specific cholesterol byproducts and can visit Children's Hospital Colorado yearly. They must also have insurance that covers certain eye and ear tests. People allergic to antioxidants or without detectable cholesterol byproducts cannot join.Check my eligibility

What is being tested?

The study is testing the effects of giving cholesterol and antioxidant supplements to SLOS patients. Their health is tracked through regular clinic visits, blood tests, vitamin level checks, and annual under-anesthesia exams including vision and hearing assessments.See study design

What are the potential side effects?

Potential side effects may include reactions to the antioxidant medications such as rashes or digestive issues since allergies are an exclusion criterion; however, detailed side effect profiles are not provided in this summary.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

Select...

I have been diagnosed with Smith-Lemli-Opitz Syndrome.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 1-2 year

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~1-2 year

This trial's timeline: 3 weeks for screening, Varies for treatment, and 1-2 year for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Change in Electroretinogram (ERG) results over time

Secondary outcome measures

Change in ABR (Auditory Brainstem response) testing over time

Other outcome measures

Change in Blood Oxysterol measurements over time

Trial Design

3Treatment groups

Experimental Treatment

Group I: antioxidant effects on retinal functionExperimental Treatment2 Interventions

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

Group II: antioxidant effects on hearingExperimental Treatment2 Interventions

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

Group III: Antioxidant effect on OxysterolsExperimental Treatment2 Interventions

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

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

Cholesterol

1998

N/A

~130

Antioxidants

2005

Completed Phase 4

~7310

0 / 1Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Smith-Lemli-Opitz Syndrome (SLOS) is treated primarily with cholesterol supplementation to replenish deficient cholesterol levels, which is vital for normal cellular function, growth, and development. Antioxidant medications are also used to reduce oxidative stress, further aiding in symptom management. Regular monitoring ensures the effectiveness and safety of these treatments.

Autosomal recessive hypercholesterolemia in a kindred of Syrian ancestry.Brown adipose tissue activity is modulated in olanzapine-treated young rats by simvastatin.Dyslipidemia and cardiovascular health in childhood nephrotic syndrome.