Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers (SLS)
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ClinicalTrials.gov Identifier: NCT01971957 |
Recruitment Status :
Active, not recruiting
First Posted : October 30, 2013
Last Update Posted : November 8, 2022
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Condition or disease |
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Sjogren-Larsson Syndrome (SLS) |
Study Type : | Observational [Patient Registry] |
Estimated Enrollment : | 50 participants |
Observational Model: | Case-Only |
Time Perspective: | Prospective |
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, 2023 |
Estimated Study Completion Date : | September 30, 2023 |

Group/Cohort |
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Sjogren-Larsson syndrome
There are no cohorts for this study.
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- 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

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Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- The only eligibility criterion is that subjects have a genetically or biochemically confirmed diagnosis of Sjogren-Larsson syndrome.
Exclusion Criteria:
- The primary exclusion criteria are the patients' failure to consent or inability to travel to a STAIR site.

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 |
Publications:
Responsible Party: | William Rizzo, MD, PI, University of Nebraska |
ClinicalTrials.gov Identifier: | NCT01971957 |
Other Study ID Numbers: |
560-12 |
First Posted: | October 30, 2013 Key Record Dates |
Last Update Posted: | November 8, 2022 |
Last Verified: | November 2022 |
ichthyosis spasticity spastic diplegia intellectual disability |
Sjogren's Syndrome Sjogren-Larsson Syndrome Syndrome Disease Pathologic Processes Arthritis, Rheumatoid Arthritis Joint Diseases Musculoskeletal Diseases Rheumatic Diseases Xerostomia Salivary Gland Diseases Mouth Diseases Stomatognathic Diseases Dry Eye Syndromes |
Lacrimal Apparatus Diseases Eye Diseases Connective Tissue Diseases Autoimmune Diseases Immune System Diseases Ichthyosis Skin Abnormalities Congenital Abnormalities Lipidoses Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Skin Diseases, Genetic Infant, Newborn, Diseases Keratosis |