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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
Information provided by (Responsible Party):
William Rizzo, MD, University of Nebraska Identifier:
First received: April 30, 2013
Last updated: October 29, 2013
Last verified: October 2013
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.

Sjogren-Larsson Syndrome (SLS)

Study Type: Observational [Patient Registry]
Study Design: 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

Resource links provided by NLM:

Further study details as provided by William Rizzo, MD, University of Nebraska:

Primary Outcome Measures:
  • 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) ]

Biospecimen Retention:   Samples Without DNA
Blood, urine, skin

Estimated Enrollment: 50
Study Start Date: April 2013
Estimated Study Completion Date: July 2017
Estimated Primary Completion Date: July 2017 (Final data collection date for primary outcome measure)
Sjogren-Larsson syndrome
There are no cohorts for this study.

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.

Ages Eligible for Study:   Child, Adult, Senior
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.

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01971957

Contact: William B Rizzo, MD 4025592560
Contact: Rachel Cooper, BS, AS 4022906738

United States, Nebraska
University of Nebraska Medical Center Recruiting
Omaha, Nebraska, United States, 68198-5456
Principal Investigator: William B Rizzo, M.D.         
United States, Oregon
Oregon Health & Science University Recruiting
Portland, Oregon, United States, 97239
Principal Investigator: Jean-Baptiste Roullet, Ph.D.         
Sponsors and Collaborators
University of Nebraska
Study Chair: William B Rizzo, MD University of Nebraska
  More Information


Responsible Party: William Rizzo, MD, PI, University of Nebraska Identifier: NCT01971957     History of Changes
Other Study ID Numbers: 560-12
Study First Received: April 30, 2013
Last Updated: October 29, 2013

Keywords provided by William Rizzo, MD, University of Nebraska:
spastic diplegia
intellectual disability

Additional relevant MeSH terms:
Sjogren's Syndrome
Sjogren-Larsson Syndrome
Dry Eye Syndromes
Pathologic Processes
Arthritis, Rheumatoid
Joint Diseases
Musculoskeletal Diseases
Rheumatic Diseases
Salivary Gland Diseases
Mouth Diseases
Stomatognathic Diseases
Lacrimal Apparatus Diseases
Eye Diseases
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases
Skin Abnormalities
Congenital Abnormalities
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Skin Diseases, Genetic
Infant, Newborn, Diseases
Keratosis processed this record on September 19, 2017