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ORPHA:280671

Megaconial congenital muscular dystrophy

low confidenceDisorder

Also known as: Congenital megaconial myopathy · Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect · Congenital muscular dystrophy with mitochondrial structural abnormalities

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

647

Trials

0

Interventional, condition-specific

Researchers

4,637

Distinct authors in sample

Gene link

CHKB

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, skeletal muscle disease characterized by an early-onset , muscle weakness, global with , and . structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.

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)

congenital megaconial myopathy · congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect · congenital muscular dystrophy with mitochondrial structural abnormalities · megaconial congenital muscular dystrophy · megaconial type congenital muscular dystrophy

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

    Strong — CHKB

  2. LiteraturePresent

    647 matched papers (458 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Generalized hypotonia; Elevated circulating creatine kinase activity; Facial palsy) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) 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; 7 for broader category congenital muscular dystrophy

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 (CHKB).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

18

Associated phenotypes · MONDO:0011246

  • Generalized hypotonia
  • Elevated circulating creatine kinase activity
  • Facial palsy
  • Increased endomysial connective tissue
  • Muscle weakness

Showing 5 of 18 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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

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?

647

647 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.

647 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).

458 in the last 10 years · low confidence

Phrase hits: 64 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

4,637

Distinct author names in 64 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
    Wang Y14 papers · 2026

    Saint Louis University, Department of Biology, Saint Louis, MO, USA.

    Papers in Europe PMC
  2. 02
    Zhang H11 papers · 2021

    Thomas Jefferson University/Vickie & Jack Farber Institute for Neuroscience, Hospital for Neuroscience, Philadelphia, PA, USA.

    Papers in Europe PMC
  3. 03
    Nishino I10 papers · 2021

    aej National Center of Neurology and Psychiatry , Department of Neuromuscular Research , National Institute of Neuroscience , Tokyo , Japan.

    Papers in Europe PMC
  4. 04
    Zhang Y10 papers · 2021

    The Chinese University of Hong Kong, Department of Anaesthesia and Intensive Care, Hong Kong, China.

    Papers in Europe PMC
  5. 05
    Liu X8 papers · 2021

    University of Colorado at Boulder, Department of Biochemistry, Boulder, CO, USA.

    Papers in Europe PMC
  6. 06
    Zhang L8 papers · 2021

    Huazhong University of Science and Technology, College of Life Science and Technology, Key Laboratory of Molecular Biophysics of Ministry of Education,Wuhan, Hubei, China.

    Papers in Europe PMC
  7. 07
    Chen Y7 papers · 2021

    Research Institute in Oncology and Hematology, CancerCare Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  8. 08
    Li M7 papers · 2021

    Jinan University, College of Life Science and Technology, Department of Biology, Guangzhou, China.

    Papers in Europe PMC
  9. 09
    Liu Y7 papers · 2021

    Tsinghua Unversity, School of Life Sciences, Beijing, China.

    Papers in Europe PMC
  10. 10
    Wang C7 papers · 2021

    Huazhong University of Science and Technology, College of Life Science and Technology, Hubei Bioinformatics and Molecular Imaging Key Laboratory, Key Laboratory of Molecular Biophysics of Ministry of Education, Wuhan, Hubei, China.

    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). 7 trials are registered for congenital muscular dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 9 September 2026 · last trial check 9 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.

7 interventional trials matched congenital muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: congenital muscular dystrophy

7

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 2026-07-27

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 Megaconial congenital muscular dystrophy — 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.

("Megaconial congenital muscular dystrophy" OR "Congenital megaconial myopathy" OR "Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" OR "Congenital muscular dystrophy with mitochondrial structural abnormalities" OR "megaconial type congenital muscular dystrophy") OR (MESH:"Muscular Dystrophy, Congenital, Megaconial Type") OR ("CHKB" OR "CHKB syndrome" OR "CHKB-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Muscular Dystrophy, Congenital, Megaconial Type

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

"Megaconial congenital muscular dystrophy" OR "Congenital megaconial myopathy" OR "Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" OR "Congenital muscular dystrophy with mitochondrial structural abnormalities" OR "megaconial type congenital muscular dystrophy" OR "Muscular Dystrophy, Congenital, Megaconial Type"

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

Parent-category trials query:

"congenital muscular dystrophy"

Query health: suspect — strategies attempted: phrase, mesh; 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
  • Publication count (647) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:19:13.600Z