Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
NCT01971957 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 20
Last updated 2024-10-08
Summary
Sjogren-Larsson syndrome (SLS) is a rare genetic disease in which patients typically exhibit ichthyosis (dry, scaly skin), intellectual disability, spasticity, seizures and a distinctive maculopathy. The purpose of this study is to define the clinical spectrum and natural history of Sjogren-Larsson syndrome, and identify biomarkers that correlate with disease phenotype while establishing a registry for future investigations of biochemical pathogenesis and therapy.
Conditions
- Sjogren-Larsson Syndrome (SLS)
Sponsors & Collaborators
-
University of Nebraska
lead OTHER
Principal Investigators
-
William B Rizzo, MD · University of Nebraska
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2013-04-01
- Primary Completion
- 2023-08-31
- Completion
- 2023-09-30
Countries
- United States
Study Locations
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