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ORPHA:676

Autosomal dominant hereditary chronic pancreatitis

high confidenceDisorder

Publications

47,878

99th percentile

Trials

2

Interventional, condition-specific

Researchers

1,225

Distinct authors in sample

Gene link

CFTR, CLDN2, CPA1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.

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 (2)

hereditary chronic pancreatitis · hereditary pancreatitis

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 identifiedPresent

    Definitive — CFTR, CLDN2, CPA1, CTRC, PRSS1…

  2. LiteraturePresent

    47,878 matched papers (26,294 in last 10 years) Source

  3. Phenotype characterisedPresent

    35 HPO annotations (e.g. Increased total leukocyte count; Abnormal circulating enzyme concentration or activity; Jaundice) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 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 (CFTR, CLDN2, CPA1…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

35

Associated phenotypes · MONDO:0008185

  • Increased total leukocyte count
  • Abnormal circulating enzyme concentration or activity
  • Jaundice
  • Pancreatic calcification
  • Malnutrition

Showing 5 of 35 — 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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

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

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

47,878

47,878 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=3967) is 59.

47,878 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).

26,294 in the last 10 years · high confidence · 99th percentile (publications denominator)

Phrase hits: 2,524 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,225

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
    Sahin-Tóth M10 papers · 2026

    Department of Surgery, University of California Los Angeles, Los Angeles, California.

    Papers in Europe PMC
  2. 02
    Masamune A6 papers · 2026

    Division of Gastroenterology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan.

    Papers in Europe PMC
  3. 03
    Wu D5 papers · 2026

    Adelaide Medical School, University of Adelaide, Adelaide, SA.

    Papers in Europe PMC
  4. 04
    Coates PT4 papers · 2026

    Adelaide Medical School, University of Adelaide, Adelaide, SA.

    Papers in Europe PMC
  5. 05
    Demcsák A4 papers · 2025

    Department of Surgery, University of California Los Angeles, Los Angeles, California, USA.

    Papers in Europe PMC
  6. 06
    Abu-El-Haija M3 papers · 2026

    Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.

    Papers in Europe PMC
  7. 07
    Buscail L3 papers · 2026

    Department of Gastroenterology and Pancreatology, CHU Toulouse-Rangueil, University Hospital Centre, Toulouse University, UPS, 31059 Toulouse, France.

    Papers in Europe PMC
  8. 08
    Chen JM3 papers · 2026

    Univ Brest, Inserm, EFS, UMR 1078, GGB, F-29200, Brest, France. Electronic address: jian-min.chen@univ-brest.fr.

    Papers in Europe PMC
  9. 09
    Drogemuller CJ3 papers · 2026

    Royal Adelaide Hospital, Adelaide, South Australia, Australia.

    Papers in Europe PMC
  10. 10
    Hamada S3 papers · 2026

    Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 134 trials are registered for chronic pancreatitis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

Broader category: chronic pancreatitis

134

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

8 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

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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · dropped 0 · fetched 2026-07-29

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 (15)

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 Autosomal dominant hereditary chronic pancreatitis — 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.

("Autosomal dominant hereditary chronic pancreatitis" OR "hereditary chronic pancreatitis" OR "hereditary pancreatitis") OR ("CFTR" OR "CFTR syndrome" OR "CFTR-related" OR "CLDN2" OR "CLDN2 syndrome" OR "CLDN2-related" OR "CPA1" OR "CPA1 syndrome" OR "CPA1-related")

Run this search on Europe PMC

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

"Autosomal dominant hereditary chronic pancreatitis" OR "hereditary chronic pancreatitis" OR "hereditary pancreatitis"

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: 2 interventional · 8 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"chronic pancreatitis"

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

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 2026-07-26T14:53:37.066Z