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ORPHA:99981

Apnea of prematurity

high confidenceDisorder

Publications

1,766

87.4th percentile

Trials

44

Interventional, condition-specific

Researchers

1,105

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent diseases.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

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.”

4/6 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

    1,766 matched papers (1,022 in last 10 years) Source

  3. Phenotype characterisedPresent

    5 HPO annotations (e.g. Failure to thrive in infancy; Apnea; Cyanosis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    2 FDA designations (1 FDA orphan-indication approval) — e.g. N-acetylcysteine Source

  6. Interventional trialPresent

    44 matched on ClinicalTrials.gov (9 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)

5

Associated phenotypes · MONDO:0020567

  • Failure to thrive in infancy
  • Apnea
  • Cyanosis
  • Bradycardia
  • Hypoxemia

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)

2

Designations · 1 with FDA orphan-indication approval

  • FDA N-acetylcysteineApnea of prematurity · 2010-10-21 · Not FDA Approved for Orphan Indication
  • FDA Caffeine (Cafcit)Apnea of prematurity · 1988-09-20

Sources: FDA OOPD · EMA orphan designations

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?

1,766

1,766 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.

1,766 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).

1,022 in the last 10 years · high confidence · 87.4th percentile (publications denominator)

Phrase hits: 1,766 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,105

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
    Bruschettini M8 papers · 2024

    Paediatrics, Department of Clinical Sciences Lund Lund University, Skåne University Hospital

    Papers in Europe PMC
  2. 02
    Soll R7 papers · 2023

    Division of Neonatal-Perinatal Medicine, Department of Pediatrics Larner College of Medicine at the University of Vermont

    Papers in Europe PMC
  3. 03
    Andriessen P4 papers · 2025

    Department of Neonatology, Máxima MC, Veldhoven, The Netherlands.

    Papers in Europe PMC
  4. 04
    Basille-Dugay M4 papers · 2026

    Laboratory of Neuronal and Neuroendocrine Communication and Differentiation, Institute for Research and Innovation in Biomedicine (IRIB), Normandie Univ, UNIROUEN, INSERM U1239, 76000, Rouen, France.

    Papers in Europe PMC
  5. 05
    Burel D4 papers · 2026

    Laboratory of Neuronal and Neuroendocrine Communication and Differentiation, Institute for Research and Innovation in Biomedicine (IRIB), Normandie Univ, UNIROUEN, INSERM U1239, 76000, Rouen, France. delphine.burel@univ-rouen.fr.

    Papers in Europe PMC
  6. 06
    Eichenwald EC4 papers · 2026

    Hospital of the University of Pennsylvania (HUP), Children's Hospital of Philadelphia, Philadelphia.

    Papers in Europe PMC
  7. 07
    Rodriguez-Duboc A4 papers · 2026

    Laboratory of Neuronal and Neuroendocrine Communication and Differentiation, Institute for Research and Innovation in Biomedicine (IRIB), Normandie Univ, UNIROUEN, INSERM U1239, 76000, Rouen, France.

    Papers in Europe PMC
  8. 08
    Vaudry D4 papers · 2026

    Laboratory of Neuronal and Neuroendocrine Communication and Differentiation, Institute for Research and Innovation in Biomedicine (IRIB), Normandie Univ, UNIROUEN, INSERM U1239, 76000, Rouen, France.

    Papers in Europe PMC
  9. 09
    Chen L3 papers · 2026

    University of Kentucky, Department of Neurosurgery, Lexington, Kentucky, United States.

    Papers in Europe PMC
  10. 10
    Chen S3 papers · 2026

    Zhongshan Hospital Affiliated to Xiamen University, Xiamen, Fujian Province, 361000, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

44

interventional trials for this specific condition

44 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 11 September 2026

44 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.9th percentile).

high confidence · 96.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

12 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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · 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 (8)

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 Apnea of prematurity — 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.

"Apnea of prematurity" OR "Apnea of the prematurity"

Run this search on Europe PMC

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

"Apnea of prematurity" OR "Apnea of the prematurity"

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: 44 interventional · 12 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

Ingested 2026-07-27T06:50:58.013Z