Clinical Trial Details
— Status: Recruiting
Administrative data
NCT number |
NCT01773278 |
Other study ID # |
01-410 |
Secondary ID |
|
Status |
Recruiting |
Phase |
Phase 2
|
First received |
|
Last updated |
|
Start date |
December 2008 |
Est. completion date |
December 2025 |
Study information
Verified date |
May 2024 |
Source |
University of Colorado, Denver |
Contact |
Ellen R Elias, MD |
Phone |
720 777-5401 |
Email |
ellen.elias[@]childrenscolorado.org |
Is FDA regulated |
No |
Health authority |
|
Study type |
Interventional
|
Clinical Trial 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.
Description:
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.