Sjogren-Larsson Syndrome: 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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Sjogren-Larsson Syndrome (SLS) Brain Damage, Chronic Brain Diseases Central Nervous System Diseases Cerebral Palsy Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Ichthyosis Infant, Newborn, Diseases Intellectual Disability Keratosis Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Mental Disorders Metabolic Diseases Metabolism, Inborn Errors Muscle Hypertonia Muscle Spasticity Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Neuromuscular Manifestations Nutritional and Metabolic Diseases Pathological Conditions, Signs and Symptoms Signs and Symptoms Sjogren-Larsson Syndrome Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Nebraska Medical Center, Omaha, Nebraska, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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 outcomes

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.

Sponsors and collaborators

Lead sponsor

University of Nebraska

Other

Registry information

Official study title

Sjogren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers

Acronym: SLS

Important dates

Study start: 2013
Primary completion: 2023
Study completion: 2023
First posted: Oct 30, 2013
Registry last updated: Oct 8, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed