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ORPHA:178464

Hereditary myopathy with early respiratory failure

medium confidenceDisorder

Also known as: Edström Myopathy · HIBM-ERF · HMERF · Hereditary inclusion body myopathy with early respiratory failure · MFM-titinopathy · Myofibrillar myopathy with early respiratory failure · Myofibrillar myopathy-titinopathy

Publications

197

71th percentile

Trials

0

Interventional, condition-specific

Researchers

1,520

Distinct authors in sample

Gene link

TTN

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neuromuscular disease characterized by adult onset of slowly distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles.

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 (10)

ADMERF · Edstrom myopathy · Edström myopathy · HMERF-ERF · distal myopathy with early respiratory muscle involvement · hereditary inclusion body myopathy with early respiratory failure · hereditary proximal myopathy with early respiratory failure · myofibrillar myopathy with early respiratory failure · myopathy, distal, with early respiratory failure, autosomal dominant · myopathy, proximal, with early respiratory muscle involvement

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.

  1. Gene identifiedPresent

    Definitive — TTN

  2. LiteraturePresent

    197 matched papers (130 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 trialPartial

    None under the specific name; 181 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 (TTN).

GenCC classification: Definitive.

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?

197

197 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.

197 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).

130 in the last 10 years · medium confidence · 71th percentile (publications denominator)

Phrase hits: 197 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

1,520

Distinct author names in 197 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
    Udd B30 papers · 2026

    From INSERM (R.D.C., C.R., K.C., I.R.), U951; Généthon (R.D.C., C.R., K.C., I.R.), R&D Department, INTEGRARE Research Unit, Evry; Neuromuscular Morphology Unit, Myology Institute (N.B.R., M.B.), and INSERM UMRS_974, CNRS FRE 3617, Center of Research in Myology (R.B.Y., F.L., N.B.R., E.M., M.B., I.N., G.B.), Sorbonne Universités, UPMC Univ Paris 06, and AP-HP, University Hospital, Reference Center for Neuromuscular Diseases, Myology Institute (R.B.Y., N.B.R., E.M., B.E.), Groupe Hospitalier La Pitié-Salpêtrière, Paris; Génopole Campus 2 (S.B., A.C.), PartnerChip, Evry; the Department of Medical Genetics (F.L., A.V., B.U.), Folkhälsan Institute of Genetics, University of Helsinki, Finland; AP-HP (J.N.), Groupe Hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de Biochimie et Génétique Moléculaire, Paris; CEA-IG-Centre National de Genotypage (L.B.A., C.C., R.O.), Evry; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and the Department of Neurology (B.U.), Vaasa Central Hospital, Finland. R.D.C. is currently affiliated with Disease Genomics Group, Institut de Medicina Predictiva i Personalitzada del Càncer, Campus de Can Ruti, Camí de les Escoles, Badalona (Barcelona), Spain.

    Papers in Europe PMC
  2. 02
    Savarese M20 papers · 2026

    Folkhälsan Research Center, Helsinki, Finland.

    Papers in Europe PMC
  3. 03
    Gautel M15 papers · 2026

    King's College London BHF Centre of Research Excellence, Cardiovascular Division, London, SE1 1UL, UK. mathias.gautel@kcl.ac.uk

    Papers in Europe PMC
  4. 04
    Straub V12 papers · 2026

    The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. Volker.straub@newcastle.ac.uk.

    Papers in Europe PMC
  5. 05
    Hackman P11 papers · 2024

    Folkhälsan Research Center, Helsinki, Finland.

    Papers in Europe PMC
  6. 06
    Beggs AH10 papers · 2026

    Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.

    Papers in Europe PMC
  7. 07
    Chinnery PF10 papers · 2016

    Institute of Genetic Medicine, Newcastle University; and Department of Neurology, Royal Victoria Infirmary, Newcastle, NE1 3BZ, UK patrick.chinnery@ncl.ac.uk.

    Papers in Europe PMC
  8. 08
    Pfeffer G10 papers · 2018

    Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada.

    Papers in Europe PMC
  9. 09
    Vihola A10 papers · 2026

    From INSERM (R.D.C., C.R., K.C., I.R.), U951; Généthon (R.D.C., C.R., K.C., I.R.), R&D Department, INTEGRARE Research Unit, Evry; Neuromuscular Morphology Unit, Myology Institute (N.B.R., M.B.), and INSERM UMRS_974, CNRS FRE 3617, Center of Research in Myology (R.B.Y., F.L., N.B.R., E.M., M.B., I.N., G.B.), Sorbonne Universités, UPMC Univ Paris 06, and AP-HP, University Hospital, Reference Center for Neuromuscular Diseases, Myology Institute (R.B.Y., N.B.R., E.M., B.E.), Groupe Hospitalier La Pitié-Salpêtrière, Paris; Génopole Campus 2 (S.B., A.C.), PartnerChip, Evry; the Department of Medical Genetics (F.L., A.V., B.U.), Folkhälsan Institute of Genetics, University of Helsinki, Finland; AP-HP (J.N.), Groupe Hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de Biochimie et Génétique Moléculaire, Paris; CEA-IG-Centre National de Genotypage (L.B.A., C.C., R.O.), Evry; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and the Department of Neurology (B.U.), Vaasa Central Hospital, Finland. R.D.C. is currently affiliated with Disease Genomics Group, Institut de Medicina Predictiva i Personalitzada del Càncer, Campus de Can Ruti, Camí de les Escoles, Badalona (Barcelona), Spain.

    Papers in Europe PMC
  10. 10
    Nishino I9 papers · 2024

    Neurological Research Institute, National Center of Neurology and Psychiatry, Japan.

    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). 181 trials are registered for 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.

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

Broader category: myopathy

181

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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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.

"Hereditary myopathy with early respiratory failure" OR "Edström Myopathy" OR "HIBM-ERF" OR "HMERF" OR "Hereditary inclusion body myopathy with early respiratory failure" OR "MFM-titinopathy" OR "Myofibrillar myopathy with early respiratory failure" OR "Myofibrillar myopathy-titinopathy" OR "ADMERF" OR "Edstrom myopathy" OR "HMERF-ERF" OR "distal myopathy with early respiratory muscle involvement" OR "hereditary proximal myopathy with early respiratory failure" OR "myopathy, distal, with early respiratory failure, autosomal dominant" OR "myopathy, proximal, with early respiratory muscle involvement"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant; Hereditary Myopathy with Early Respiratory Failure

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

"Hereditary myopathy with early respiratory failure" OR "Edström Myopathy" OR "HIBM-ERF" OR "HMERF" OR "Hereditary inclusion body myopathy with early respiratory failure" OR "MFM-titinopathy" OR "Myofibrillar myopathy with early respiratory failure" OR "Myofibrillar myopathy-titinopathy" OR "ADMERF" OR "Edstrom myopathy" OR "HMERF-ERF" OR "distal myopathy with early respiratory muscle involvement" OR "hereditary proximal myopathy with early respiratory failure" OR "myopathy, distal, with early respiratory failure, autosomal dominant" OR "myopathy, proximal, with early respiratory muscle involvement" OR "[OBSOLETE] Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant" OR "TTN"

Recall-expansion terms: TTN

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, recall-expansion; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "distal myopathy with early respiratory muscle involvement" also appears on ORPHA:34521

Ingested 2026-07-27T08:52:28.462Z