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

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified October 2013 by William Rizzo, MD, University of Nebraska.
Recruitment status was:  Recruiting
Sponsor:
ClinicalTrials.gov Identifier:
NCT01971957
First Posted: October 30, 2013
Last Update Posted: October 30, 2013
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.
Information provided by (Responsible Party):
William Rizzo, MD, University of Nebraska
April 30, 2013
October 30, 2013
October 30, 2013
April 2013
July 2017   (Final data collection date for primary outcome measure)
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) ]
Same as current
No Changes Posted
Not Provided
Not Provided
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Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
Sjogren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers
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.
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.
Observational [Patient Registry]
Observational Model: Case-Only
Time Perspective: Prospective
5 Years
Retention:   Samples Without DNA
Description:
Blood, urine, skin
Non-Probability Sample
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.
Sjogren-Larsson Syndrome (SLS)
Not Provided
Sjogren-Larsson syndrome
There are no cohorts for this study.
 
Unknown status
50
July 2017
July 2017   (Final data collection date for primary outcome measure)

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.
Sexes Eligible for Study: All
Child, Adult, Senior
No
Contact information is only displayed when the study is recruiting subjects
United States
 
 
NCT01971957
560-12
Yes
Not Provided
Not Provided
William Rizzo, MD, University of Nebraska
University of Nebraska
Not Provided
Study Chair: William B Rizzo, MD University of Nebraska
University of Nebraska
October 2013