ORPHA:398063
Refractory celiac disease
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
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018353
- UMLS:C4749333
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,279 matched papers (1,428 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
2,279
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=5449) is 41.
2,279 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).
1,428 in the last 10 years · low confidence
Phrase hits: 2,279 · MeSH hits: 0
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.
- 01Elli 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 - 02Bouma G6 papers · 2026
Department of Gastroenterology and Hepatology, Amsterdam UMC, Vrije Universiteit Amsterdam, AGEM Institute, Amsterdam, the Netherlands.
Papers in Europe PMC - 03Nandi 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 - 04Ciccocioppo 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 - 05Li J5 papers · 2025
Department of Pathology, Tongji Hospital Affiliated to Tongji University School of Medicine, Shanghai 200065, China.
Papers in Europe PMC - 06Vecchi 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 - 07Bontkes 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 - 08Branchi 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 - 09Koning F4 papers · 2026
Department of Immunology, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 10Sanders 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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th 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
- NCT07556328·RECRUITING·Histomolecular Profiling in Small-Bowel Diseases
Conditions: Celiac Disease · Small Bowel Disease · Refractory Celiac Disease·Matched via name phrase
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 2026-07-26This 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"
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