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ORPHA:552

MODY

low confidenceDisorder

Also known as: Maturity-onset diabetes of the young

Publications

20,276

Trials

13

Interventional, condition-specific

Researchers

1,179

Distinct authors in sample

Gene link

ABCC8

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

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)

maturity onset diabetes of the young · maturity-onset diabetes of the young · maturity-onset diabetes of the young (disease)

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — ABCC8

  2. LiteraturePresent

    20,276 matched papers (11,180 in last 10 years) Source

  3. Phenotype characterisedPresent

    162 HPO annotations (e.g. Multicystic kidney dysplasia; Hypothyroidism; Intellectual disability) Source

  4. Animal modelPresent

    46 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    13 matched on ClinicalTrials.gov (3 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 (ABCC8).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

162

Associated phenotypes · MONDO:0018911

  • Multicystic kidney dysplasia
  • Hypothyroidism
  • Intellectual disability
  • Pyloric stenosis
  • Papillary cystadenoma of the epididymis

Showing 5 of 162 — open Monarch for the full list.

Animal models (Monarch / Alliance)

46

Model associations linked to this Mondo ID

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_0018911

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

20,276

20,276 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.

20,276 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).

11,180 in the last 10 years · low confidence

Phrase hits: 16,788 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,179

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
    Chen S6 papers · 2026

    Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China.

    Papers in Europe PMC
  2. 02
    Chen Y6 papers · 2026

    School of Life Sciences, Zhejiang Chinese Medical University, Hangzhou, 310053, China. cytworld@163.com.

    Papers in Europe PMC
  3. 03
    Colclough K6 papers · 2026

    Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.

    Papers in Europe PMC
  4. 04
    Fan Y5 papers · 2026

    Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China.

    Papers in Europe PMC
  5. 05
    Patel KA5 papers · 2026

    Department of Clinical and Biomedical Science, University of Exeter, Exeter, U.K.

    Papers in Europe PMC
  6. 06
    Deng L4 papers · 2026

    Division of Endocrinology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.

    Papers in Europe PMC
  7. 07
    Hattersley AT4 papers · 2026

    Department of Clinical and Biomedical Science, University of Exeter, Exeter, U.K.

    Papers in Europe PMC
  8. 08
    Huang Y4 papers · 2026

    Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China.

    Papers in Europe PMC
  9. 09
    Krishnamurthy M4 papers · 2026

    Division of Endocrinology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.

    Papers in Europe PMC
  10. 10
    Laver TW4 papers · 2026

    Department of Clinical and Biomedical Science, University of Exeter, Exeter, U.K.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

13 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

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

13 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.5th percentile).

low confidence · 93.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

11 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 17 · after dedupe 17 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 17 · 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 (17)

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 MODY — 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.

("MODY" OR "Maturity-onset diabetes of the young" OR "Maturity-onset diabetes of young" OR "maturity onset diabetes of the young" OR "maturity onset diabetes of young" OR "maturity-onset diabetes of the young (disease)" OR "maturity-onset diabetes of young (disease)") OR ("ABCC8" OR "ABCC8 syndrome" OR "ABCC8-related")

Run this search on Europe PMC

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

"MODY" OR "Maturity-onset diabetes of the young" OR "Maturity-onset diabetes of young" OR "maturity onset diabetes of the young" OR "maturity onset diabetes of young" OR "maturity-onset diabetes of the young (disease)" OR "maturity-onset diabetes of young (disease)"

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: 13 interventional · 11 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

Synonyms dropped by stoplist: MODY

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:19:39.144Z