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ORPHA:228113

Anal fistula

high confidenceDisorder

Publications

4,942

92th percentile

Trials

102

Interventional, condition-specific

Researchers

928

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare intestinal condition characterized by an abnormal communication between the lower rectum and the perianal skin, which usually develops after an acute perianal abscess. A fistulous traject may be established on either side of the anus (never in the midline) and mucous or fecal discharge can appear. The skin around the external orifice can be irritated. Males are more often affected than females.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

anal fistula · anal fistula (disease) · anorectal fistula

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.”

4/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,942 matched papers (2,913 in last 10 years) Source

  3. Phenotype characterisedPresent

    7 HPO annotations (e.g. Anoperineal fistula; Pruritus; Anal pain) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. human autologous mesenchymal adult stem cells extracted from adipose tissue Source

  6. Interventional trialPresent

    102 matched on ClinicalTrials.gov (17 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

7

Associated phenotypes · MONDO:0000754

  • Anoperineal fistula
  • Pruritus
  • Anal pain
  • Chills
  • Cellulitis

Showing 5 of 7 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

2

Designations · no FDA orphan-indication approval yet

  • EMA human autologous mesenchymal adult stem cells extracted from adipose tissueTreatment of anal fistula · 26/08/2005 · WithdrawnEMA designation
  • EMA expanded human allogeneic mesenchymal adult stem cells extracted from adipose tissue (darvadstrocel)Treatment of anal fistula · 08/10/2009 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

3 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Ciprofloxacin · therapeutic
  • Drugs, Chinese Herbal · therapeutic
  • Ergotamine · marker/mechanism

MyDisease.info · MONDO:0000754

Literature

Is anyone studying this?

4,942

4,942 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=3967) is 59.

4,942 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,913 in the last 10 years · high confidence · 92th percentile (publications denominator)

Phrase hits: 4,851 · MeSH hits: 141

Open Europe PMC search

Who's working on it?

928

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
    Wang J11 papers · 2026

    Coloproctology Department, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.

    Papers in Europe PMC
  2. 02
    Wang X10 papers · 2026

    Department of General Surgery, the Fourth West China Hospital of Sichuan University, Chengdu City, People's Republic of China.

    Papers in Europe PMC
  3. 03
    Li Y7 papers · 2026

    Department of Dermatology, The Affiliated Traditional Chinese Medicine Hospital, Southwest Medical University, Luzhou, Sichuan Province, China.

    Papers in Europe PMC
  4. 04
    Wang Z7 papers · 2026

    Department of Plastic Surgery, Peking Union Medical College Hospital, Beijing, China.

    Papers in Europe PMC
  5. 05
    Wu J6 papers · 2026

    Department of Coloproctology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of TCM, ShangHai, China.

    Papers in Europe PMC
  6. 06
    Zhang Y6 papers · 2026

    Department of Pathology, The Second People's Hospital of Xiaoshan, Hangzhou, Zhejiang 311241, P.R. China.

    Papers in Europe PMC
  7. 07
    Choudhary PR5 papers · 2026

    Department of Physiology, Banas Medical College and Research Institute, Palanpur, India.

    Papers in Europe PMC
  8. 08
    Mei Z5 papers · 2026

    Department of Anorectal Surgery, Shuguang Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.

    Papers in Europe PMC
  9. 09
    Wang C5 papers · 2026

    The Gastrointestinal and Anorectal Hospital of Shenyang, Shenyang Campus, Liaoning, 110002, China.

    Papers in Europe PMC
  10. 10
    Yagnik VD5 papers · 2026

    Department of Surgery, Banas Medical College and Research Institute, Palanpur, India. Electronic address: vipul.yagnik@gmail.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

102

interventional trials for this specific condition

102 interventional trials matched this specific condition name; 17 currently recruiting in our sample.

Data as of 11 September 2026

102 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.5th percentile).

high confidence · 98.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

34 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 24 · after dedupe 24 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 24 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (24)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Anal fistula — check Associations / patient organisations on that page.

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.

"Anal fistula" OR "anal fistula (disease)" OR "anorectal fistula"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Rectal Fistula

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

"Anal fistula" OR "anal fistula (disease)" OR "anorectal fistula" OR "Rectal Fistula"

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

Study-type breakdown: 102 interventional · 34 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T10:01:58.372Z