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ORPHA:324

Fabry disease

low confidenceDisorder

Also known as: Alpha-galactosidase A deficiency · Anderson-Fabry disease · FD

Publications

12,631

Trials

114

Interventional, condition-specific

Researchers

1,318

Distinct authors in sample

Gene link

GLA

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Fabry's disease · Fd · angiokeratoma corporis diffusum · diffuse angiokeratoma

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 — GLA

  2. LiteraturePresent

    12,631 matched papers (6,980 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

    114 matched on ClinicalTrials.gov (14 recruiting in sample)

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 (GLA).

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?

12,631

12,631 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

12,631 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).

6,980 in the last 10 years · low confidence

Phrase hits: 12,631 · MeSH hits: 289

Open Europe PMC search

Who's working on it?

1,318

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
    Biagini E8 papers · 2026

    Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS University Hospital of Bologna, Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Pieroni M8 papers · 2026

    Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.

    Papers in Europe PMC
  3. 03
    Simonetta I8 papers · 2026

    Internal Medicine and Stroke Care Ward, Department of Promoting Health, Maternal-Infant Excellence and Internal and Specialized Medicine (ProMISE) G. D'Alessandro, University of Palermo (Italy), Piazza delle Cliniche n.2, 90127 Palermo, Italy.

    Papers in Europe PMC
  4. 04
    Tuttolomondo A8 papers · 2026

    Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties Department, University of Palermo, Palermo, Italy.

    Papers in Europe PMC
  5. 05
    Duro G6 papers · 2025

    Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.

    Papers in Europe PMC
  6. 06
    Graziani F6 papers · 2026

    Department of Cardiovascular Sciences-CUORE, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168, Rome, Italy. francesca.graziani@policlinicogemelli.it.

    Papers in Europe PMC
  7. 07
    Mignani R6 papers · 2026

    Nephrology, Dialysis and Transplantation, IRCCS S. Orsola Hospital Bologna, University of Bologna, Bologna, Italy. renzo.mignani2@unibo.it.

    Papers in Europe PMC
  8. 08
    Pisani A6 papers · 2026

    Nephrology, University Federico II of Naples, Naples, Italy.

    Papers in Europe PMC
  9. 09
    Colomba P5 papers · 2025

    Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.

    Papers in Europe PMC
  10. 10
    Donadio V5 papers · 2026

    Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

114

interventional trials for this specific condition

114 interventional trials matched this specific condition name; 14 currently recruiting in our sample.

Data as of 27 July 2026

114 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.6th percentile).

low confidence · 98.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

131 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

Directly listed under NPRD Groups 1 and 3.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Group 3 — high-cost / lifelong therapy with careful selection

Up to ₹50 lakh per patient

Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.

Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Fabry disease" OR "Alpha-galactosidase A deficiency" OR "Anderson-Fabry disease" OR "Fabry's disease" OR "angiokeratoma corporis diffusum" OR "diffuse angiokeratoma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Fabry Disease

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

"Fabry disease" OR "Alpha-galactosidase A deficiency" OR "Anderson-Fabry disease" OR "Fabry's disease" OR "angiokeratoma corporis diffusum" OR "diffuse angiokeratoma" OR "GLA"

Recall-expansion terms: GLA

Interventional trials matched via: both, 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: 114 interventional · 131 observational · 3 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FD

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:24:20.520Z