Living with Sjogren Larsson Syndrome
Sjögren-Larsson Syndrome (SLS) is a rare homozygous recessive genetic disease that affects approximately 1 in 250,000 individuals and is characterized by congenital ichthyosis (scaly, thickened, dry skin), neurologic deficits (which may include spasticity, seizures, and cognitive delay), and, in some patients, retinal dysfunction. These symptoms are apparent by early childhood.
SLS is caused by mutations in the ALDH3A2 gene, which encodes fatty aldehyde dehydrogenase (FALDH). FALDH converts long chain (generally 16 to 18 carbon) aldehydes into fatty acids. In SLS patients, FALDH activity is significantly reduced or absent, resulting in an accumulation of toxic fatty aldehydes and associated derivatives that lead to the clinical manifestations of the disease. There are no FDA-approved therapies for SLS at this time.
Currently, awareness of SLS is low, and many SLS patients may be misdiagnosed. If you are aware of a patient with ichthyosis and neurological compromise (with or without retinal pathology) please contact us.
We announced positive Phase 2 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.