Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
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ClinicalTrials.gov Identifier: NCT01773278 |
Recruitment Status :
Recruiting
First Posted : January 23, 2013
Last Update Posted : January 20, 2022
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Condition or disease | Intervention/treatment | Phase |
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Smith-Lemli-Opitz Syndrome Cone-Rod Dystrophy Hearing Loss | Drug: Antioxidants Drug: Cholesterol | Phase 2 |
Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive disorder caused by a metabolic error in the final step of cholesterol biosynthesis, leading to cholesterol deficiency and accumulation of the cholesterol precursor, 7-dehydrocholesterol.Patients with SLOS display complex medical problems including growth failure, intellectual disability, behavioral disorders, progressive retinal dystrophy, hearing loss and photosensitivity. Dr Elias was one of the original geneticists who discovered the cause of this disorder in 1994, and ever since has been treating SLOS patients with cholesterol supplementation. In 2008, a second medication called AquADEKS, a mixture of vitamins and other compounds with antioxidant properties was added to the treatment regimen. AquADEKS has since been replaced with a comparable medication named DEKAS plus.The purpose of the DEKAS plus is to allow treatment with antioxidant medications in an effort to prevent retinal degeneration, hearing and skin problems associated with SLOS.
This protocol has been approved by the Colorado Multiple Institutional Review Board and supported by the Clinical Translational Research Center (CTRC) since 2001. The following updated information is available about the protocol:
1. Research has revealed that oxysterols are toxic compounds made from the cholesterol precursor, 7-dehydrocholesterol. These oxysterol compounds are severely neurotoxic and toxic to the retina, and treatment with antioxidants may help lower their levels, resulting in slowing of retinal deterioration. Testing of oxysterol levels in patients with SLOS is now ongoing, in collaboration with a laboratory at University of Washington in Seattle (Dr Libin Xu). It is hoped that testing of oxysterol levels in blood may help provide more updated info to help guide treatment.
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 100 participants |
Allocation: | Non-Randomized |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) |
Study Start Date : | December 2008 |
Estimated Primary Completion Date : | December 2025 |
Estimated Study Completion Date : | December 2025 |

Arm | Intervention/treatment |
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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
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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.
Other Name: DEKAS Plus 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
Other Names:
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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)
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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.
Other Name: DEKAS Plus 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
Other Names:
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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
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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.
Other Name: DEKAS Plus 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
Other Names:
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- Change in Electroretinogram (ERG) results over time [ Time Frame: 1-2 year ]ERG testing will be performed on an serial basis while the patient is being treated with antioxidants (AquADEKS), to follow the amplitude and latency time on ERG. Improvement would be determined by an increased amplitude and decreased latency time.
- Change in ABR (Auditory Brainstem response) testing over time [ Time Frame: 1-2 years ]Patients will be followed serial with ABR to determine the latency time in Wave I, when treated with antioxidant medication
- Change in Blood Oxysterol measurements over time [ Time Frame: 12-24 months ]Oxysterols can be measured in blood specimens from SLOS patients.

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Ages Eligible for Study: | up to 65 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01773278
Contact: Ellen R Elias, MD | 720 777-5401 | ellen.elias@childrenscolorado.org |
United States, Colorado | |
Children's Hospital Colorado | Recruiting |
Aurora, Colorado, United States, 80045 | |
Principal Investigator: Ellen R Elias, MD |
Principal Investigator: | Ellen R Elias, MD | University of Colorado, Denver |
Responsible Party: | University of Colorado, Denver |
ClinicalTrials.gov Identifier: | NCT01773278 |
Other Study ID Numbers: |
01-410 |
First Posted: | January 23, 2013 Key Record Dates |
Last Update Posted: | January 20, 2022 |
Last Verified: | January 2022 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Studies a U.S. FDA-regulated Drug Product: | Yes |
Studies a U.S. FDA-regulated Device Product: | No |
Antioxidant treatment Oxysterols Cholesterol deficiency |
Accumulation of 7-dehydrocholesterol electroretinogram (ERG) Auditory Brainstem Response (ABR) |
Cleft Palate Hypertelorism Hearing Loss Cone-Rod Dystrophies Hypospadias Genetic Diseases, X-Linked Smith-Lemli-Opitz Syndrome Syndrome Disease Pathologic Processes Hearing Disorders Ear Diseases Otorhinolaryngologic Diseases Sensation Disorders Neurologic Manifestations |
Nervous System Diseases Jaw Abnormalities Jaw Diseases Musculoskeletal Diseases Maxillofacial Abnormalities Craniofacial Abnormalities Musculoskeletal Abnormalities Stomatognathic Diseases Mouth Abnormalities Mouth Diseases Stomatognathic System Abnormalities Congenital Abnormalities Craniofacial Dysostosis Dysostoses Bone Diseases, Developmental |