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ORPHA:217560

Neuroendocrine cell hyperplasia of infancy

medium confidenceDisorder

Also known as: NCHI · NEHI

Publications

210

62th percentile

Trials

1

Interventional, condition-specific

Researchers

1,164

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.

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 (2)

CTI · chronic tachypnoe 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.”

2/6 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

    210 matched papers (138 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 (1 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?

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

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

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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 2026-07-27

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_0016322

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

210

210 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

210 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).

138 in the last 10 years · medium confidence · 62th percentile (publications denominator)

Phrase hits: 210 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,164

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
    Griese M24 papers · 2026

    Hauner Children's Hospital, Ludwig Maximilians University, German Center for Lung Research (DZL), Munich, Germany.

    Papers in Europe PMC
  2. 02
    Deterding RR22 papers · 2020

    Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.

    Papers in Europe PMC
  3. 03
    Young LR22 papers · 2024

    Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

    Papers in Europe PMC
  4. 04
    Nathan N19 papers · 2026

    AP-HP, Hôpital Trousseau, Pediatric Pulmonary Department, Paris, France. nadia.nathan@trs.aphp.fr

    Papers in Europe PMC
  5. 05
    Krenke K13 papers · 2026

    Department of Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, Poland.

    Papers in Europe PMC
  6. 06
    Marczak H12 papers · 2026

    Department of Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, Poland.

    Papers in Europe PMC
  7. 07
    Brody AS10 papers · 2019

    Children's Interstitial Lung Disease Research Network (CHILDRN) .

    Papers in Europe PMC
  8. 08
    Dishop MK10 papers · 2018

    Department of Pathology and Laboratory Medicine, University of Colorado School of Medicine, Aurora, Colorado.

    Papers in Europe PMC
  9. 09
    Epaud R10 papers · 2025

    Centre Hospitalier Intercommunal de Créteil, Service de Pédiatrie Générale, Créteil, France.

    Papers in Europe PMC
  10. 10
    Lange J10 papers · 2026

    5 Department of Pediatric Pneumology and Allergy, Medical University of Warsaw, Poland.

    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; 1 currently recruiting in our sample. 781 trials are registered for hyperplasia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 9 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).

medium 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.

Broader category: hyperplasia

781

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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 1 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

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 Neuroendocrine cell hyperplasia of infancy — 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.

"Neuroendocrine cell hyperplasia of infancy" OR "chronic tachypnoe of infancy"

Run this search on Europe PMC

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

"Neuroendocrine cell hyperplasia of infancy" OR "Neuroendocrine cell hyperplasia of the infancy" OR "chronic tachypnoe of infancy" OR "chronic tachypnoe of the infancy"

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

Parent-category trials query:

"hyperplasia"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: NCHI; NEHI; CTI

Confidence reasoning

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

Ingested 2026-07-26T02:07:03.796Z