Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers

NCT01971957 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2024-10-08

No results posted yet for this study

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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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01971957 on ClinicalTrials.gov