Sjögren-Larsson Syndrome Study

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

Protocol Description

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.

Eligibility Criteria

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
Duration: Ongoing

Status: Enrolling by Invitation

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Danielle Black, BS