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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 : March 25, 2020
Sponsor:
Information provided by (Responsible Party):
William Rizzo, MD, University of Nebraska

Tracking Information
First Submitted Date April 30, 2013
First Posted Date October 30, 2013
Last Update Posted Date March 25, 2020
Study Start Date April 2013
Estimated Primary Completion Date August 31, 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 5, 2018)
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.
Original Primary Outcome Measures
 (submitted: October 29, 2013)
Characterize the extent and progression of neurocutaneous disease in patients with Sjogren-Larsson syndrome, and identify useful biomarkers. [ Time Frame: 2017 (up to 5 years) ]
Change History
Current Secondary Outcome Measures
 (submitted: February 5, 2018)
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.
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
Official Title Sjogren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers
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.
Detailed Description 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]
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration 5 Years
Biospecimen Retention:   Samples Without DNA
Description:
Blood, urine, skin
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.
Condition Sjogren-Larsson Syndrome (SLS)
Intervention Not Provided
Study Groups/Cohorts Sjogren-Larsson syndrome
There are no cohorts for this study.
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Active, not recruiting
Estimated Enrollment
 (submitted: October 29, 2013)
50
Original Estimated Enrollment Same as current
Estimated Study Completion Date August 2021
Estimated Primary Completion Date August 31, 2020   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01971957
Other Study ID Numbers 560-12
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party William Rizzo, MD, University of Nebraska
Study Sponsor University of Nebraska
Collaborators Not Provided
Investigators
Study Chair: William B Rizzo, MD University of Nebraska
PRS Account University of Nebraska
Verification Date March 2020