RecruitingNCT07615400
Metabolic
Fucosidosis
Also known as FUCA1 deficiency, alpha-L-fucosidase deficiency
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
ORPHA:349 ↗Gene FUCA1Prevalence 1-9 per 1,000,000 (Orphanet)Onset Infantile, ChildhoodAutosomal recessive genetic
1
studies recruiting now
as of 7 Sept 2026
10
studies registered in total
as of 7 Sept 2026
6
countries with a recruiting site
as of 7 Sept 2026
29 May 2026
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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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
Progressive intellectual disabilityCoarse facial featuresAngiokeratomaRecurrent infectionsSpasticityGrowth retardationSeizures
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2/3Cyclophosphamide (Cyclophosphamide)
Phase 2/3Busulfan (Busilvex)
Before you apply
Things trial teams commonly ask about for Fucosidosis. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).