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ORPHA:676

Autosomal dominant hereditary chronic pancreatitis

high confidenceDisorder

Publications

2,524

93.9th percentile

Trials

71

Interventional, condition-specific

Researchers

1,225

Distinct authors in sample

Gene link

CFTR, CLDN2, CPA1

Definitive

Readiness

3/6

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.”

3/6 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

    2,524 matched papers (1,247 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

    71 matched on ClinicalTrials.gov (10 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 (CFTR, CLDN2, CPA1…).

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?

2,524

2,524 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.

2,524 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).

1,247 in the last 10 years · high confidence · 93.9th 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?

71

interventional trials for this specific condition

71 interventional trials matched this specific condition name; 10 currently recruiting in our sample. 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 27 July 2026

71 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.9th percentile).

high confidence · 97.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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

43 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.

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

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" OR "CFTR" OR "CLDN2" OR "CPA1" OR "CTRC" OR "PRSS1" OR "SPINK1" OR "TRPV6"

Recall-expansion terms: CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1, TRPV6

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: 71 interventional · 43 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"chronic pancreatitis"

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

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