Living with Sjogren Larsson Syndrome
Sjögren-Larsson syndrome (SLS) is a rare genetic disease caused by mutations in the gene that encodes an enzyme called fatty aldehyde dehydrogenase. This mutation results in accumulation of fatty aldehydes (toxic chemicals) that are thought to cause severe ichthyosis (scaly, thickened, dry skin), neurological disorders (which may include spasticity, seizures, and cognitive delay), and, in some patients, retinal disease.
If you are a patient or caregiver looking for information about SLS, click here.
The National Organization for Rare Disorders (NORD), is a non-profit organization dedicated to helping people with rare diseases. Through this collaboration, Aldeyra and NORD will work to increase awareness of SLS and provide patients with opportunities to connect with each other and to access information about their disease, available resources, and ongoing efforts related to diagnosis and treatment.
Through the collaboration with NORD’s RareLaunch® program, NORD provides mentorship, encourages knowledge sharing, promotes networking, and supports the growth of a strong-independent rare disease patient organization.
The Sjögren-Larsson Syndrome Registry is a new database to accelerate research and cures for patients with this rare disease. The Registry creates a platform for patients around the world with SLS to share information about the disease with researchers, by providing a picture of each patient’s experience to help researchers and medical experts advance research. There are currently no FDA-approved treatments for SLS. The SLS Registry is part of NORD’s registry program, which NORD developed with input from patients and patient organizations, researchers, and regulators as part of its mission to identify and treat all 7,000 rare diseases.
In the third quarter of 2016, we announced positive data from our randomized, vehicle-controlled, double-masked clinical trial of topical dermatologic ADX-102 to treat the skin disease in patients with SLS. The skin of all ADX-102-treated patients improved, and the magnitude of improvement was statistically greater than that of vehicle-treated patients. The results of the clinical trial suggest that ADX-102 could be the first mechanistically directed therapy in SLS.