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ORPHA:199340

BAG3-related myofibrillar myopathy

medium confidenceDisorder

Also known as: MFM6 · Myofibrillar myopathy type 6

Publications

32

41.8th percentile

Trials

3

Interventional, condition-specific

Researchers

211

Distinct authors in sample

Gene link

BAG3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare myofibrillar characterized by childhood-/adolescent-onset with proximal and/or distal muscle weakness that commonly progress to involve axial muscles due to BAG3 mutations. Patients present with toe-walking, gait disturbance, fatigue, rigid spine, scoliosis and joint contractures (particularly of the knees, ankles, and hips). Respiratory insufficiency and are frequently present. All patients exhibit a sensorimotor axonal/demyelinating (often with giant axons) peripheral contributing to distal weakness and sensory loss. Disease typically progress rapidly in childhood-/adolescent-onset patient, however few adult-onset patients reported to have milder, slower progression with limited cardiac or respiratory involvement.

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)

BAG3 myofibrillar myopathy (disease) · myofibrillar myopathy (disease) caused by mutation in BAG3 · myofibrillar myopathy 6 · myofibrillar myopathy type 6 · myopathy, myofibrillar, type 6

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

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

  1. Gene identifiedPresent

    Strong — BAG3

  2. LiteraturePresent

    32 matched papers (27 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (3 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 (BAG3).

GenCC classification: Strong.

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?

32

32 papers have ever been published on this condition (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.

32 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).

27 in the last 10 years · medium confidence · 41.8th percentile (publications denominator)

Phrase hits: 32 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

211

Distinct author names in 32 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
    Filippi K6 papers · 2026

    Institute of Physiology I, Medical Faculty, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  2. 02
    Fleischmann BK6 papers · 2026

    Institute of Physiology I, Medical Faculty, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  3. 03
    Hesse M6 papers · 2026

    Institute of Physiology I, Medical Faculty, University of Bonn, Bonn, Germany. mhesse1@uni-bonn.de.

    Papers in Europe PMC
  4. 04
    Wiemann M4 papers · 2026

    Institute of Physiology I, Medical Faculty, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  5. 05
    Riße I3 papers · 2025

    Institute of Physiology I, Medical Faculty, University of Bonn, Germany.

    Papers in Europe PMC
  6. 06
    Bonnet D2 papers · 2026

    M3C-Necker, Congenital and Pediatric Cardiology Department, Necker Enfants malades University Hospital, APHP, Paris, France.

    Papers in Europe PMC
  7. 07
    Conklin BR2 papers · 2025

    Gladstone Institutes, San Francisco, USA; University of California, San Francisco, USA.

    Papers in Europe PMC
  8. 08
    Daire E2 papers · 2026

    Pediatric Cardiology Department, Amiens University Hospital and Laboratory EA4666 Hematim, University of Picardie-Jules Verne, Amiens, France.

    Papers in Europe PMC
  9. 09
    Gardin C2 papers · 2026

    Cardiology Departement, Laval Hospital, Laval, France.

    Papers in Europe PMC
  10. 10
    Gitiaux C2 papers · 2026

    Reference Centre for Neuromuscular Diseases, Necker-Enfants malades Hospital, APHP, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

medium confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: myofibrillar myopathy

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Observational and natural-history studies

3 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

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 2026-07-26

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.

"BAG3-related myofibrillar myopathy" OR "Myofibrillar myopathy type 6" OR "BAG3 myofibrillar myopathy (disease)" OR "myofibrillar myopathy (disease) caused by mutation in BAG3" OR "myofibrillar myopathy 6" OR "myopathy, myofibrillar, type 6"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Myopathy, Myofibrillar, Bag3-Related

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

"BAG3-related myofibrillar myopathy" OR "Myofibrillar myopathy type 6" OR "BAG3 myofibrillar myopathy (disease)" OR "myofibrillar myopathy (disease) caused by mutation in BAG3" OR "myofibrillar myopathy 6" OR "myopathy, myofibrillar, type 6" OR "Myopathy, Myofibrillar, Bag3-Related" OR "BAG3"

Recall-expansion terms: BAG3

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"myofibrillar myopathy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MFM6

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 2026-07-27T09:14:01.524Z