Sjogren-Larsson syndrome
MONDO:0010031A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
Also known as: SLS, Senior-Løken Syndrome, Sjogren-Larsson syndrome, fatty acid alcohol oxidoreductase deficiency, FADH deficiency, FALDH deficiency, FAO deficiency, Sjögren-Larsson syndrome
3 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
Experimental pill targets toxic fat buildup in rare genetic disease
Disease control CompletedThis study tested an oral drug called ADX-629 in 8 people with Sjögren-Larsson syndrome, a rare inherited disorder that causes harmful fatty substances to build up in the skin, brain, and eyes. The main goals were to see if the drug is safe and can reduce these fatty aldehydes. P…
Phase: PHASE1, PHASE2 • Sponsor: University of Nebraska • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
-
Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC