This research study will determine whether orally administered ADX-629 is safe and has
biochemical efficacy in patients with Sjögren-Larsson syndrome (SLS), a rare inherited
disorder of fatty aldehyde metabolism The disease is caused by bi-allelic mutations in
ALDH3A2, which results in deficient activity of fatty aldehyde dehydrogenase (FALDH) and
leads to the build-up of harmful long-chain (C16-C20) aldehydes and alcohols. Accumulation of
these lipids and their metabolic products in skin, brain and eyes is responsible for the
symptoms, which persist lifelong. ADX-629 is an aldehyde trapping agent that is expected to
eliminate fatty aldehydes and negate aldehyde toxicity, improve the biochemical abnormalities
and have clinical efficacy for SLS.
The primary objective of this clinical protocol is to determine whether ADX-629 is safe and
tolerable for use in SLS subjects. The secondary objective is to determine the efficacy of
ADX-629 in reversing the biochemical abnormalities in SLS. Exploratory objectives are to
evaluate the short-term clinical effects of ADX-629 on neurologic, cutaneous and
ophthalmologic disease in SLS. Patients will be treated with ADX-629 for 12 weeks and
monitored for safety and biochemical efficacy.