RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:99885

Isolated permanent neonatal diabetes mellitus

medium confidenceDisorder

Also known as: Isolated PNDM

Publications

30,297

98.4th percentile

Trials

0

Interventional, condition-specific

Researchers

387

Distinct authors in sample

Gene link

ABCC8, GATA4, HNF1B

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Permanent diabetes mellitus (PNDM) is a monogenic form of diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

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)

PNDM · monogenic diabetes of infancy

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — ABCC8, GATA4, HNF1B, INS, MNX1…

  2. LiteraturePresent

    30,297 matched papers (18,525 in last 10 years) Source

  3. Phenotype characterisedPresent

    92 HPO annotations (e.g. Seizure; Muscle weakness; Axial hypotonia) Source

  4. Animal modelPresent

    4 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 trialPartial

    None under the specific name; 3 for broader category neonatal diabetes mellitus

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, GATA4, HNF1B…).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

92

Associated phenotypes · MONDO:0100164

  • Seizure
  • Muscle weakness
  • Axial hypotonia
  • Dehydration
  • Vomiting

Showing 5 of 92 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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

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?

30,297

30,297 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.

30,297 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).

18,525 in the last 10 years · medium confidence · 98.4th percentile (publications denominator)

Phrase hits: 46 · MeSH hits: 15

Open Europe PMC search

Who's working on it?

387

Distinct author names in 61 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Ellard S11 papers · 2022

    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.

    Papers in Europe PMC
  2. 02
    Hattersley AT8 papers · 2022

    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK. Electronic address: a.t.hattersley@exeter.ac.uk.

    Papers in Europe PMC
  3. 03
    Barbetti F7 papers · 2024

    San Raffaele Biomedical Park Foundation and Bambino Gesù Pediatric Hospital and Department of Internal Medicine, University of Tor Vergata, Rome, Italy.

    Papers in Europe PMC
  4. 04
    De Franco E7 papers · 2025

    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.

    Papers in Europe PMC
  5. 05
    Flanagan SE7 papers · 2023

    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.

    Papers in Europe PMC
  6. 06
    Rubio-Cabezas O5 papers · 2014

    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK.

    Papers in Europe PMC
  7. 07
    Colombo C4 papers · 2012

    Laboratory of Molecular Endocrinology and Metabolism, Bambino Gesù Children's Hospital, Scientific Institute and Department of Internal Medicine, University of Tor Vergata, Rome, Italy.

    Papers in Europe PMC
  8. 08
    Iafusco D4 papers · 2012

    Department of Pediatrics, Second University of Naples, Italy.

    Papers in Europe PMC
  9. 09
    Bonfanti R3 papers · 2012

    Department of Pediatrics, San Raffaele Hospital and Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Deeb A3 papers · 2024

    Pediatric Endocrine Division, Sheikh Shakhbout Medical City and College of Medicine and Health Science, Khalifa University, Abu Dhabi, UAE.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 3 trials are registered for neonatal diabetes mellitus, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

3 interventional trials matched neonatal diabetes mellitus, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: neonatal diabetes mellitus

3

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.

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.

None of the matched observational studies is currently listed as 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Isolated permanent neonatal diabetes mellitus — 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.

("Isolated permanent neonatal diabetes mellitus" OR "Isolated PNDM" OR "monogenic diabetes of infancy" OR "monogenic diabetes of the infancy") OR (MESH:"Diabetes Mellitus, Permanent Neonatal") OR ("ABCC8" OR "ABCC8 syndrome" OR "ABCC8-related" OR "GATA4" OR "GATA4 syndrome" OR "GATA4-related" OR "HNF1B" OR "HNF1B syndrome" OR "HNF1B-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Diabetes Mellitus, Permanent Neonatal

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

"Isolated permanent neonatal diabetes mellitus" OR "Isolated PNDM" OR "monogenic diabetes of infancy" OR "monogenic diabetes of the infancy" OR "Diabetes Mellitus, Permanent Neonatal"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neonatal diabetes mellitus"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PNDM

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T06:29:25.622Z