About Fucosidosis
Fucosidosis is an extremely rare lysosomal storage disorder caused by mutations in the FUCA1 gene encoding alpha-L-fucosidase, an enzyme needed to break down fucose-containing glycoproteins and glycolipids. Accumulation of these substrates causes progressive neurological deterioration, coarse facial features, angiokeratoma, and recurrent infections. The disease course is variable, with two clinical forms described: an early-severe form and a later-milder form with longer survival.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Fucosidosis trials.
Alpha-L-fucosidase enzyme activity in leukocytes is the primary diagnostic and eligibility biomarker
Fucosidosis is extremely rare — contact ISMRD and Orphanet for active trial information and patient advocacy support
Natural history studies and registries are the most accessible research participation option given current lack of approved therapies
Hematopoietic stem cell transplantation has been attempted in some patients — transplant status affects future trial eligibility
Patient Resources
Find recruiting Fucosidosis trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Fucosidosis. Updated daily.