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The purpose of this multicenter study is to understand the course of Sjögren-Larsson syndrome (SLS), and establish a bank of data and information for future investigations on SLS. With this knowledge, researchers hope that the diagnosis and treatment of SLS may be improved. SLS is a rare genetic skin and neurological disease caused by mutations in the ALDH3A2 gene. Centers collaborating on this study are part of the Sterol and Isoprenoid Diseases Consortium (STAIR), a research group studying SLS and other diseases.
This study is accepting males and females of all ages who have a genetically or biochemically confirmed diagnosis of SLS.
Males and Females: All ages
Participants are asked to come to the research center every 3 years for testing, physical examination, imaging and sampling (blood and urine). Results of tests along with medical history information will be entered into the SLS database. Some adults with intellectual disabilities may be asked to spend the night in the hospital for certain tests.
Visits: Once every 3 years
Study Description at National Institutes of Health
Sterol and Isoprenoid Deseases Consortium
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Danielle Black, BS
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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