ORPHA:319160
Congenital myopathy with internal nuclei and atypical cores
Also known as: CNM4 · Centronuclear myopathy type 4
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
7
21.7th percentile
Trials
0
Interventional, condition-specific
Researchers
66
Distinct authors in sample
Gene link
CCDC78
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by , distal more than proximal muscle weakness, exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013890
- OMIM:614807
- UMLS:C4707232
Additional Mondo synonyms (2)
centronuclear myopathy type 4 · myopathy, centronuclear, type 4
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Limited — CCDC78
- LiteraturePresent
7 matched papers (6 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 6 for broader category congenital 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?
Possibly — only limited evidence so far for CCDC78.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
7
7 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
7 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
6 in the last 10 years · medium confidence · 21.7th percentile (publications denominator)
Phrase hits: 7 · MeSH hits: 0
Who's working on it?
66
Distinct author names in 7 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.
- 01Deng J2 papers · 2024
Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China. Electronic address: jianwendeng@pkufh.com.
Papers in Europe PMC - 02Hong D2 papers · 2024
Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.
Papers in Europe PMC - 03Wang Z2 papers · 2024
Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China. Electronic address: drwangzx@163.com.
Papers in Europe PMC - 04Yu J2 papers · 2024
Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.
Papers in Europe PMC - 05Zheng Y2 papers · 2024
Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
Papers in Europe PMC - 06Aprile S1 paper · 2022
Department of Pharmaceutical Sciences, Università del Piemonte Orientale, Novara, Italy.
Papers in Europe PMC - 07Bakoš M1 paper · 2024
Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
Papers in Europe PMC - 08Bertoni A1 paper · 2022
Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy; and.
Papers in Europe PMC - 09Bhela IP1 paper · 2022
Department of Pharmaceutical Sciences, Università del Piemonte Orientale, Novara, Italy.
Papers in Europe PMC - 10Bhuwania P1 paper · 2021
Department of Nephrology, KG Hospital and PG Institute, Coimbatore, Tamil Nadu, India.
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). 6 trials are registered for congenital myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
6 interventional trials matched congenital myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: congenital myopathy
6
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
- NCT06833489·RECRUITING·Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Conditions: Rare Genetic Muscle Diseases · Muscular Dystrophy, Duchenne · Muscular Dystrophy, Becker · Congenital Myopathy·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Congenital myopathy with internal nuclei and atypical cores" OR "Centronuclear myopathy type 4" OR "myopathy, centronuclear, type 4"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital myopathy with internal nuclei and atypical cores" OR "Centronuclear myopathy type 4" OR "myopathy, centronuclear, type 4" OR "CCDC78"
Recall-expansion terms: CCDC78
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital myopathy"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CNM4
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
Ingested 2026-07-27T13:17:05.717Z