Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | Any - 65 |
| Updated: | 9/21/2018 |
| Start Date: | December 2008 |
| End Date: | December 2018 |
| Contact: | Ellen R Elias, MD |
| Email: | ellen.elias@childrenscolorado.org |
| Phone: | 720 777-5401 |
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 an annual basis, the patients undergo a series of tests
under anesthesia, including electroretinogram (ERG), brainstem audiometry (ABR), and
ophthalmologic exam under anesthesia to follow pigmentary retinopathy.
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 an annual basis, the patients undergo a series of tests
under anesthesia, including electroretinogram (ERG), brainstem audiometry (ABR), and
ophthalmologic exam under anesthesia to follow pigmentary retinopathy.
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. Since 2008, a second
medication called AquADEKS, a mixture of vitamins and other compounds with antioxidant
properties was added to the treatment regimen. The purpose of the AquADEKS 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. Since the last
Colorado Multiple Institutional Review Board annual review, the following updated information
is available about the protocol:
1. New research has revealed that oxysterols are toxic compounds made from the cholesterol
precursor, 7-dehydrocholesterol. These oxysterol compounds are severely neurotoxic 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 Vanderbilt University (Dr Ned Porter). It is hoped that
testing of oxysterol levels in blood may help provide more updated info to help guide
treatment.
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. Since 2008, a second
medication called AquADEKS, a mixture of vitamins and other compounds with antioxidant
properties was added to the treatment regimen. The purpose of the AquADEKS 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. Since the last
Colorado Multiple Institutional Review Board annual review, the following updated information
is available about the protocol:
1. New research has revealed that oxysterols are toxic compounds made from the cholesterol
precursor, 7-dehydrocholesterol. These oxysterol compounds are severely neurotoxic 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 Vanderbilt University (Dr Ned Porter). It is hoped that
testing of oxysterol levels in blood may help provide more updated info to help guide
treatment.
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
We found this trial at
1
site
13123 E 16th Ave
Aurora, Colorado 80045
Aurora, Colorado 80045
(720) 777-1234
Principal Investigator: Ellen R Elias, MD
Children's Hospital Colorado At Children's Hospital Colorado, we see more, treat more and heal more...
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