Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers (SLS)
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| ClinicalTrials.gov Identifier: NCT01971957 |
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Recruitment Status :
Active, not recruiting
First Posted : October 30, 2013
Last Update Posted : November 8, 2022
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Sponsor:
University of Nebraska
Information provided by (Responsible Party):
William Rizzo, MD, University of Nebraska
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Brief 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.
| Condition or disease |
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| Sjogren-Larsson Syndrome (SLS) |
The study will consist of a clinical component and a scientific component consisting of laboratory investigations of potentially useful biochemical (lipid and protein) markers. Up to 50 SLS patients of all ages, gender and ethnic origins will be enrolled. A detailed clinical evaluation will be performed to determine the presence and extent of disease involving the skin, nervous system and eyes. Clinical testing will include brain magnetic resonance imaging (MRI) and spectroscopy (MRS), electroencephalography (EEG), neurocognitive tests, ophthalmologic examination with retinal photographs and optical coherence tomography (OCT), photographs of the skin and tests of cutaneous transepidermal water loss. Laboratory investigations will include lipid analyses (e.g. fatty alcohols, farnesol, fatty acids, ether glycerolipids, etc.) of blood, skin and urine; proteomic analysis of skin (stratum corneum); and measurements of leukocyte fatty alcohol and farnesol oxidation. A skin biopsy (optional) will be obtained for electron microscopy, measurement of lanthanum perfusion (transepidermal water loss), and/or establishing keratinocyte cultures. Correlations between clinical abnormalities and laboratory measurements will be tested to identify the most useful biomarkers for future diagnostic and therapeutic studies. To characterize the progression of phenotypic features over time, patients <6 years of age will be followed yearly and patients ≥6 years of age will be followed every 3 years. In addition, a SLS patient registry will be established as a resource for future investigations in 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 |
Resource links provided by the National Library of Medicine
| Group/Cohort |
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Sjogren-Larsson syndrome
There are no cohorts for this study.
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Primary Outcome Measures :
- 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.
Secondary Outcome Measures :
- 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
Blood, urine, skin
Information from the National Library of Medicine
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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 |
Study Population
The study population will come from cohorts of Sjögren-Larsson syndrome patients currently followed at STAIR sites, from the RDCRN contact registry, and from the pool of new patients who directly contact STAIR sites or are referred to STAIR centers by their physicians.
Criteria
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.
Information from the National Library of Medicine
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
Locations
| 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 | |
Sponsors and Collaborators
University of Nebraska
Investigators
| Study Chair: | William B Rizzo, MD | University of Nebraska |
Additional Information:
Publications:
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 |
Keywords provided by William Rizzo, MD, University of Nebraska:
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ichthyosis spasticity spastic diplegia intellectual disability |
Additional relevant MeSH terms:
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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 |