Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers (SLS)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01971957|
Recruitment Status : Active, not recruiting
First Posted : October 30, 2013
Last Update Posted : March 25, 2020
|Condition or disease|
|Sjogren-Larsson Syndrome (SLS)|
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||50 participants|
|Target Follow-Up Duration:||5 Years|
|Official Title:||Sjogren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers|
|Study Start Date :||April 2013|
|Estimated Primary Completion Date :||August 31, 2020|
|Estimated Study Completion Date :||August 2021|
There are no cohorts for this study.
- Characterize the extent and progression of neurocutaneous disease in patients with Sjogren-Larsson syndrome (SLS). [ Time Frame: 2017 (up to 5 years) ]Determine the spectrum of clinical disease severity and changes in severity of symptoms over time. Each organ system will be evaluated using validated clinical exams (for example, Modified Ashworth Spasticity Score for neurologic severity) or categorical tests (such as EEG normal or abnormal). The clinical data will be used to develop a quantitative SLS severity score whereby patients will be described (for example, overall severity 1 to 5 with score 1 being the mildest phenotype and score 5 being the most severe). These quantitative outcome measures will be followed over time to assess disease progression.
- Identify biomarkers that correlate with disease severity. [ Time Frame: 2017 (up to 5 years) ]Blood, urine and skin biomarkers will be explored to identify tests that correlate with clinical severity of SLS. Multiple tests will be performed and outcome measures will be statistically compared to the clinical severity score to determine correlation coefficients, which will be used to establish new biomarkers for SLS.
Biospecimen Retention: Samples Without DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01971957
|United States, Nebraska|
|University of Nebraska Medical Center|
|Omaha, Nebraska, United States, 68198-5456|
|United States, Pennsylvania|
|University of Pittsburgh Medical Center|
|Pittsburgh, Pennsylvania, United States, 15213|
|Study Chair:||William B Rizzo, MD||University of Nebraska|