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ORPHA:168572

Native American myopathy

low confidenceDisorder

Also known as: STAC3-related congenital myopathy · Bailey-Bloch congenital myopathy · Congenital myopathy-cleft palate-malignant hyperthermia syndrome

Publications

642

Trials

0

Interventional, condition-specific

Researchers

694

Distinct authors in sample

Gene link

STAC3

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Native American (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

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 (3)

STAC3 disorder · congenital myopathy-cleft palate-malignant hyperthermia syndrome · myopathy, congenital, baily-bloch

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

    Definitive — STAC3

  2. LiteraturePresent

    642 matched papers (565 in last 10 years) Source

  3. Phenotype characterisedPresent

    74 HPO annotations (e.g. Cleft palate; Motor delay; Muscle weakness) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio) 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; 182 for broader category myopathy

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 (STAC3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

74

Associated phenotypes · MONDO:0009722

  • Cleft palate
  • Motor delay
  • Muscle weakness
  • Respiratory insufficiency
  • Progressive congenital scoliosis

Showing 5 of 74 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

642

642 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.

642 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).

565 in the last 10 years · low confidence

Phrase hits: 101 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

694

Distinct author names in 101 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
    Campiglio M6 papers · 2025

    Department of Physiology, Medical University, Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC
  2. 02
    Flucher BE6 papers · 2020

    Department of Physiology, Medical University, Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC
  3. 03
    Kuwada JY6 papers · 2020

    Cell and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan.

    Papers in Europe PMC
  4. 04
    Linsley JW6 papers · 2020

    Cell and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan.

    Papers in Europe PMC
  5. 05
    Hsu IU5 papers · 2020

    Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, Michigan.

    Papers in Europe PMC
  6. 06
    Dirksen RT4 papers · 2019

    Department of Pharmacology & Physiology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.

    Papers in Europe PMC
  7. 07
    Dowling JJ4 papers · 2021

    Departments of Paediatrics and Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  8. 08
    Jabs EW4 papers · 2021

    McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

    Papers in Europe PMC
  9. 09
    Jungbluth H4 papers · 2022

    Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital, London, UK.

    Papers in Europe PMC
  10. 10
    Karasik D4 papers · 2025

    The Musculoskeletal Genetics Laboratory, The Azrieli Faculty of Medicine, Bar-Ilan University, Safed, 1311502, Israel; Hebrew SeniorLife, Hinda and Arthur Marcus Institute for Aging Research, Boston, MA 02131, USA. Electronic address: david.karasik@biu.ac.il.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 182 trials are registered for myopathy, 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.

low 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.

182 interventional trials matched myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: myopathy

182

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 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 Native American myopathy — 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.

("Native American myopathy" OR "STAC3-related congenital myopathy" OR "Bailey-Bloch congenital myopathy" OR "Congenital myopathy-cleft palate-malignant hyperthermia syndrome" OR "STAC3 disorder" OR "myopathy, congenital, baily-bloch") OR (MESH:"Native American myopathy") OR ("STAC3" OR "STAC3 syndrome" OR "STAC3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Native American myopathy

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

"Native American myopathy" OR "STAC3-related congenital myopathy" OR "Bailey-Bloch congenital myopathy" OR "Congenital myopathy-cleft palate-malignant hyperthermia syndrome" OR "STAC3 disorder" OR "myopathy, congenital, baily-bloch"

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

Parent-category trials query:

"myopathy"

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

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
  • Publication count (642) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:27:45.682Z