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ORPHA:244

Primary ciliary dyskinesia

medium confidenceDisorder

Also known as: PCD

Publications

9,514

95.3th percentile

Trials

23

Interventional, condition-specific

Researchers

1,232

Distinct authors in sample

Gene link

AK7, AKNA, BRWD1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).

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 (2)

Kartagener syndrome · Kartagener's syndrome

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — AK7, AKNA, BRWD1, CFAP221, CFAP43…

  2. LiteraturePresent

    9,514 matched papers (5,866 in last 10 years) Source

  3. Phenotype characterisedPresent

    705 HPO annotations (e.g. Recurrent respiratory infections; Situs inversus totalis; Bronchiectasis) Source

  4. Animal modelPresent

    113 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    1 FDA · 3 EMA designations (1 FDA orphan-indication approval) — e.g. Uridine 5'-triphosphate Source

  6. Interventional trialPresent

    23 matched on ClinicalTrials.gov (10 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 (AK7, AKNA, BRWD1…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

705

Associated phenotypes · MONDO:0016575

  • Recurrent respiratory infections
  • Situs inversus totalis
  • Bronchiectasis
  • Ciliary dyskinesia
  • Recurrent otitis media

Showing 5 of 705 — open Monarch for the full list.

Animal models (Monarch / Alliance)

113

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)

4

Designations · 1 with FDA orphan-indication approval

  • FDA Uridine 5'-triphosphatePrimary Ciliary Dyskinesia · 1996-06-26 · Not FDA Approved for Orphan Indication
  • EMA Cyclo[L-alanyl-L-seryl-L-isoleucyl-L-prolyl-L-prolyl-L-glutaminyl-L-lysyl-L-tyrosyl-D-prolyl-L-prolyl-(2S)-2-aminodecanoyl-L-alpha-glutamyl-L-threonyl]acetate saltTreatment of primary ciliary dyskinesia · 27/02/2017 · PositiveEMA designation
  • EMA messenger ribonucleic acid coding for coiled-coil domain-containing protein 40Treatment of primary ciliary dyskinesia · 25/07/2023 · PositiveEMA designation
  • EMA 3,5-diamino-6-chloro-N-(N-(4-(4-(2-(hexyl((2S,3R,4R,5R)-2,3,4,5,6-pentahydroxyhexyl)amino)ethoxy)phenyl)butyl)-carbamimidoyl)pyrazine-2-carboxamide, Sodium chloride solution 4.2% (w/v)Treatment of primary ciliary dyskinesia · 16/11/2020 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0016575

CTD chemicals (MyDisease.info)

1 associated chemical · 1 pathway. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Aspirin · marker/mechanism

Pathways: Huntington's disease

MyDisease.info · MONDO:0016575

Literature

Is anyone studying this?

9,514

9,514 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.

9,514 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).

5,866 in the last 10 years · medium confidence · 95.3th percentile (publications denominator)

Phrase hits: 8,590 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,232

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
    Gatt D5 papers · 2026

    Pediatric Pulmonology Unit, Saban Children's Hospital, Soroka University Medical Center, Beer Sheva, Israel.

    Papers in Europe PMC
  2. 02
    Goutaki M5 papers · 2026

    Institute of Social and Preventive Medicine, , ,

    Papers in Europe PMC
  3. 03
    Keicho N5 papers · 2026

    The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.

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

    Department of Respiratory and Critical Care Medicine, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Lucas JS5 papers · 2026

    School of Clinical and Experimental Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.

    Papers in Europe PMC
  6. 06
    Morimoto K5 papers · 2026

    Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Shapiro AJ5 papers · 2026

    Department of Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada.

    Papers in Europe PMC
  8. 08
    Davis SD4 papers · 2026

    Department of Pediatrics University of North Carolina at Chapel Hill Chapel Hill North Carolina USA.

    Papers in Europe PMC
  9. 09
    Dell SD4 papers · 2026

    Department of Pediatrics BC Children's Hospital Vancouver British Columbia Canada.

    Papers in Europe PMC
  10. 10
    Emiralioglu N4 papers · 2026

    Faculty of Medicine, Department of Pediatric Pulmonology, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

23

interventional trials for this specific condition

23 interventional trials matched this specific condition name; 10 currently recruiting in our sample.

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

23 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.3th percentile).

medium confidence · 95.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

51 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 18 · after dedupe 18 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 18 · 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 (18)

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 Primary ciliary dyskinesia — 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.

("Primary ciliary dyskinesia" OR "Kartagener syndrome" OR "Kartagener's syndrome") OR ("AK7 syndrome" OR "AK7-related" OR "AKNA" OR "AKNA syndrome" OR "AKNA-related" OR "BRWD1" OR "BRWD1 syndrome" OR "BRWD1-related")

Run this search on Europe PMC

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

"Primary ciliary dyskinesia" OR "Kartagener syndrome" OR "Kartagener's syndrome"

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: 23 interventional · 51 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: PCD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "Kartagener syndrome" also appears on ORPHA:98861

Ingested 2026-07-26T13:04:09.079Z