Ignite Creation Date:
2024-05-06 @ 1:16 AM
Last Modification Date:
2024-10-26 @ 11:01 AM
Study NCT ID:
NCT01773278
Status:
RECRUITING
Last Update Posted:
2024-05-08
First Post:
2012-12-03
Brief Title:
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome SLOS
Sponsor:
University of Colorado Denver
Organization:
University of Colorado Denver
Study Overview
Official Title:
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome SLOS
Status:
RECRUITING
Status Verified Date:
2024-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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
Detailed 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-dehydrocholesterolPatients 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 plusThe 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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
True
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None