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ORPHA:398063

Refractory celiac disease

low confidenceDisorder

Also known as: Refractory CD · Refractory sprue

Publications

2,279

Trials

1

Interventional, condition-specific

Researchers

1,263

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

intractable celiac sprue · intractable coeliac sprue · refractory CD · refractory sprue

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,279 matched papers (1,428 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Microcytic anemia; Osteoporosis; Hypocalcemia) 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

    1 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?

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

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

Phenotypes (Monarch / HPO)

29

Associated phenotypes · MONDO:0018353

  • Microcytic anemia
  • Osteoporosis
  • Hypocalcemia
  • Hypophosphatemia
  • Jejunitis

Showing 5 of 29 — 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

1

Drugs / clinical candidates · MONDO_0018353

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,279

2,279 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.

2,279 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).

1,428 in the last 10 years · low confidence

Phrase hits: 2,279 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,263

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
    Elli L10 papers · 2025

    Centre for Prevention and Diagnosis of Coeliac Disease, Gastroenterology and Endoscopy Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Italy (Luca Elli, Lucia Scaramella, Gian Eugenio Tontini).

    Papers in Europe PMC
  2. 02
    Bouma G6 papers · 2026

    Department of Gastroenterology and Hepatology, Amsterdam UMC, Vrije Universiteit Amsterdam, AGEM Institute, Amsterdam, the Netherlands.

    Papers in Europe PMC
  3. 03
    Nandi N6 papers · 2025

    Academic Unit of Gastroenterology, Sheffield Teaching Hospitals National Health Service Foundation Trust, Sheffield; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, United Kingdom. nicoletta.nandi@unimi.it.

    Papers in Europe PMC
  4. 04
    Ciccocioppo R5 papers · 2025

    Gastroenterology Unit, Department of Medicine, A.O.U.I. Borgo Roma and University of Verona, 37134 Verona, Italy.

    Papers in Europe PMC
  5. 05
    Li J5 papers · 2025

    Department of Pathology, Tongji Hospital Affiliated to Tongji University School of Medicine, Shanghai 200065, China.

    Papers in Europe PMC
  6. 06
    Vecchi M5 papers · 2023

    Division of Gastroenterology and Endoscopy, Center for Prevention and Diagnosis of Celiac Disease, Foundation IRCCS Ca' Granda Major Polyclinic Hospital, Milan, Italy.

    Papers in Europe PMC
  7. 07
    Bontkes HJ4 papers · 2026

    Laboratory Medical Immunology, Department of Clinical Chemistry, Amsterdam UMC, AGEM Research Institute, AI & I Institute, Amsterdam, the Netherlands.

    Papers in Europe PMC
  8. 08
    Branchi F4 papers · 2022

    Division of Gastroenterology and Endoscopy, Center for Prevention and Diagnosis of Celiac Disease, Foundation IRCCS Ca' Granda Major Polyclinic Hospital, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Koning F4 papers · 2026

    Department of Immunology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  10. 10
    Sanders DS4 papers · 2025

    Academic Unit of Gastroenterology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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

1 observational study matches 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 14 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · 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 (14)

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 Refractory celiac disease — 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.

"Refractory celiac disease" OR "Refractory CD" OR "Refractory sprue" OR "intractable celiac sprue" OR "intractable coeliac sprue"

Run this search on Europe PMC

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

"Refractory celiac disease" OR "Refractory CD" OR "Refractory sprue" OR "intractable celiac sprue" OR "intractable coeliac sprue"

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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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
  • Publication count (2279) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T15:16:59.973Z