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ORPHA:349

Fucosidosis

low confidenceDisorder

Also known as: Alpha-L-fucosidase deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

947

Trials

6

Interventional, condition-specific

Researchers

1,121

Distinct authors in sample

Gene link

FUCA1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as , associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

fucosidosis

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — FUCA1

  2. LiteraturePresent

    947 matched papers (322 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    6 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (FUCA1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

947

947 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

947 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

322 in the last 10 years · low confidence

Phrase hits: 947 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,121

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Taylor RM7 papers · 2016

    Faculty of Veterinary Science, University of Sydney, Camperdown, NSW, 2006, Australia. rosanne.taylor@sydney.edu.au.

    Papers in Europe PMC
  2. 02
    Kondagari GS6 papers · 2015

    Faculty of Veterinary Science, University of Sydney, NSW 2006, Australia.

    Papers in Europe PMC
  3. 03
    Fletcher JL5 papers · 2016

    Teh Faculty of Veterinary Science, The UNiversity of Sydney, Camperdown NSW, 2006, Autralia. jessica.fletcher@sydney.edu.au

    Papers in Europe PMC
  4. 04
    Stepien KM5 papers · 2025

    Salford Royal Organization, Northern Care Alliance NHS Foundation Trust, Adult Inherited Metabolic Diseases Department, Salford M6 8HD, UK.

    Papers in Europe PMC
  5. 05
    Lübke T4 papers · 2026

    Biochemistry I, Department of Chemistry, Bielefeld University, Bielefeld D-33615, Germany torben.luebke@uni-bielefeld.de.

    Papers in Europe PMC
  6. 06
    Vite CH4 papers · 2023

    Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA.

    Papers in Europe PMC
  7. 07
    Williamson P4 papers · 2015

    Faculty of Veterinary Science, University of Sydney, Camperdown, NSW, 2006, Australia.

    Papers in Europe PMC
  8. 08
    Wood T4 papers · 2019

    Biochemical Genetics Laboratory, Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA.

    Papers in Europe PMC
  9. 09
    Amri Y3 papers · 2021

    Biochemistry Laboratory (LR 00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia.

    Papers in Europe PMC
  10. 10
    Boudabous H3 papers · 2021

    Pediatrics Department, La Rabta Hospital, Tunis, Tunisia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

low confidence · 89th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Fucosidosis" OR "Alpha-L-fucosidase deficiency"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Fucosidosis" OR "Alpha-L-fucosidase deficiency" OR "FUCA1"

Recall-expansion terms: FUCA1

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 6 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (947) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:30:39.793Z