Uniting the Medical Community for SLS

What is Sjögren-Larsson Syndrome (SLS)?

Sjögren-Larsson Syndrome is a rare genetic inborn error of aldehyde metabolism that is characterized by neurological disorders and severe skin disease (ichthyosis). SLS is caused by deficient activity of the fatty aldehyde dehydrogenase (FALDH), enzyme that metabolizes toxic chemical known as aldehydes.

What causes SLS?

SLS is caused by mutations in the FALDH gene, which results in diminished FALDH function. The FALDH is an enzyme that breaks down molecules known as medium- and long-chain fatty aldehydes. If FALDH is not functioning properly, aldehydes accumulate particularly in the membranes of the skin and brain, leading to the symptoms associated with SLS.[1]

How is SLS diagnosed?

Due to the rarity of SLS, some patients are not correctly diagnosed for many years. SLS can be diagnosed by a biochemical blood test that determines if FALDH activity is normal. In addition, because genetic mutations in FALDH are known to cause SLS, gene sequencing can be used to identify SLS patients.[2]

What are the symptoms of SLS?

SLS causes symptoms within the first two years of life. Patients are usually born with evidence of ichthyosis (severely dry, thickened, scaly skin). In the first year or two of life many patients have trouble walking. Speech is often delayed or indistinct, and retinal (eye) abnormalities are frequently present. Some children have seizures. Unlike most other forms of ichthyosis, many SLS children are bothered by severe itchiness of their skin.[3]

What Are The Current Treatments for SLS?

There is no FDA-approved therapy for SLS. In some patients, the dermatologic symptoms may improve to some extent following treatment with certain topical lotions and keratolytic agents, but the neurologic symptoms have no specific therapy. Aldeyra Therapeutics is developing a treatment for SLS that is designed to sequester and facilitate the degradation of the toxic aldehydes that accumulate in the disease.

Are You Treating Patients with SLS?

At Aldeyra Therapeutics, we are interested in connecting and collaborating with physicians who are currently treating patients with SLS. If you are a physician treating patients with SLS, please register here.

Watch this video to learn about a patient with SLS and Aldeyra's goals for the development of a treatment:

Sources:

 [1] Rizzo WB. Sjogren-Larsson Syndrome: Molecular Genetics and Biochemical Pathogenesis of Fatty Aldehyde Dehydrogenase Deficiency. Mol Genet Metab. September 22, 2006; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1933507/?tool=pubmed

[2]Sjogren-Larsson Syndrome. United Leukodystrophy Foundation. http://ulf.org/sjogren-larsson-syndrome

[3] http://www.firstskinfoundation.org/types-of-ichthyosis/sjogren-larsson-syndrome