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ORPHA:209908

Isolated childhood apraxia of speech

low confidenceDisorder

Also known as: Isolated CAS · Isolated developmental verbal dyspraxia · Pure CAS · Pure childhood apraxia of speech · Speech and language disorder with orofacial dyspraxia · Speech-language disorder type 1

Publications

6,432

Trials

13

Interventional, condition-specific

Researchers

750

Distinct authors in sample

Gene link

FOXP2

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

CAS · childhood apraxia of speech · developmental verbal dyspraxia · speech and language disorder with orofacial dyspraxia · speech-language disorder type 1

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 identifiedPresent

    Strong — FOXP2

  2. LiteraturePresent

    6,432 matched papers (4,404 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Delayed speech and language development; Abnormal speech pattern; Expressive language delay) Source

  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

    13 matched on ClinicalTrials.gov (4 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 (FOXP2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0011184

  • Delayed speech and language development
  • Abnormal speech pattern
  • Expressive language delay
  • Poor fine motor coordination
  • Receptive language delay

Showing 5 of 28 — open Monarch for the full list.

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)

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

3

Drugs / clinical candidates · MONDO_0011184

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

6,432

6,432 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.

6,432 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).

4,404 in the last 10 years · low confidence

Phrase hits: 1,212 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

750

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
    McCabe P15 papers · 2026

    The University of Sydney, Camperdown, New South Wales, Australia.

    Papers in Europe PMC
  2. 02
    Morgan AT14 papers · 2026

    Speech and Language Team, Murdoch Children's Research Institute, Parkville, VIC, Australia. angela.morgan@mcri.edu.au.

    Papers in Europe PMC
  3. 03
    Velleman SL14 papers · 2026

    Department of Communication Sciences and Disorders, The University of Vermont, Burlington.

    Papers in Europe PMC
  4. 04
    Iuzzini-Seigel J13 papers · 2026

    Department of Speech Pathology and Audiology, Marquette University, Milwaukee, WI.

    Papers in Europe PMC
  5. 05
    Case J10 papers · 2026

    Department of Speech-Language-Hearing Sciences, Hofstra University, Hempstead, NY.

    Papers in Europe PMC
  6. 06
    Grigos MI10 papers · 2026

    Department of Communicative Sciences and Disorders, New York University, New York City.

    Papers in Europe PMC
  7. 07
    Murray E10 papers · 2026

    University of Sydney, Susan Wakil Health Building, Western Avenue, Camperdown, NSW, 2006, Australia.

    Papers in Europe PMC
  8. 08
    Amor DJ9 papers · 2026

    Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

    Papers in Europe PMC
  9. 09
    Wong ECH9 papers · 2026

    Department of Chinese and Bilingual Studies, The Hong Kong Polytechnic University, China.

    Papers in Europe PMC
  10. 10
    Preston JL8 papers · 2026

    Syracuse University, NY.

    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; 4 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 childhood apraxia of speech — 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 childhood apraxia of speech" OR "Isolated childhood apraxia of the speech" OR "Isolated CAS" OR "Isolated developmental verbal dyspraxia" OR "Pure CAS" OR "Pure childhood apraxia of speech" OR "Pure childhood apraxia of the speech" OR "Speech and language disorder with orofacial dyspraxia" OR "Speech-language disorder type 1" OR "childhood apraxia of speech" OR "childhood apraxia of the speech" OR "developmental verbal dyspraxia") OR ("FOXP2" OR "FOXP2 syndrome" OR "FOXP2-related")

Run this search on Europe PMC

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

"Isolated childhood apraxia of speech" OR "Isolated childhood apraxia of the speech" OR "Isolated CAS" OR "Isolated developmental verbal dyspraxia" OR "Pure CAS" OR "Pure childhood apraxia of speech" OR "Pure childhood apraxia of the speech" OR "Speech and language disorder with orofacial dyspraxia" OR "Speech-language disorder type 1" OR "childhood apraxia of speech" OR "childhood apraxia of the speech" OR "developmental verbal dyspraxia"

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 · 1 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: CAS

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
  • Publication count (6432) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T09:25:37.448Z