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ORPHA:596

X-linked centronuclear myopathy

medium confidenceDisorder

Also known as: X-linked myotubular myopathy · XLCNM · XLMTM

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

Publications

971

91.3th percentile

Trials

3

Interventional, condition-specific

Researchers

1,100

Distinct authors in sample

Gene link

MTM1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare X-linked characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, and respiratory failure.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

MTM · centronuclear myopathy, X-linked · myotubular myopathy, X-linked, X-linked recessive

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

    Definitive — MTM1

  2. LiteraturePresent

    971 matched papers (604 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 (1 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 (MTM1).

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?

971

971 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=5449) is 41.

971 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).

604 in the last 10 years · medium confidence · 91.3th percentile (publications denominator)

Phrase hits: 971 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,100

Distinct author names in 200 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
    Dowling JJ18 papers · 2026

    Division of Neurology, Hospital for Sick Children, Departments of Paediatrics and Molecular Genetics, University of Toronto.

    Papers in Europe PMC
  2. 02
    Lawlor MW18 papers · 2026

    1 Institute for Stem Cell and Regenerative Medicine, 2 Department of Rehabilitation Medicine, School of Medicine, University of Washington, Seattle, Washington, USA ; 3 Department of Comparative Medicine, University of Washington, Seattle, Washington, USA ; 4 Department of Human Nutrition, Foods and Exercise, Virginia Polytechnic and State University, Blacksburg, Virginia, USA ; 5 Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI, USA ; 6 Department of Physical Therapy, University of Florida, Gainesville, FL, USA ; 7 The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  3. 03
    Beggs AH14 papers · 2026

    1 Institute for Stem Cell and Regenerative Medicine, 2 Department of Rehabilitation Medicine, School of Medicine, University of Washington, Seattle, Washington, USA ; 3 Department of Comparative Medicine, University of Washington, Seattle, Washington, USA ; 4 Department of Human Nutrition, Foods and Exercise, Virginia Polytechnic and State University, Blacksburg, Virginia, USA ; 5 Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI, USA ; 6 Department of Physical Therapy, University of Florida, Gainesville, FL, USA ; 7 The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  4. 04
    Laporte J14 papers · 2026

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France.

    Papers in Europe PMC
  5. 05
    Servais L12 papers · 2025

    Institut i-Motion, Hôpital Trousseau, Paris, France; Centre de Reference des Maladies Neuromusculaires, CHU Liege, Belgium.

    Papers in Europe PMC
  6. 06
    Jungbluth H11 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Graham RJ10 papers · 2026

    Department of Anesthesiology, Critical Care and Pain Medicine, Division of Critical Care Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA beggs@enders.tch.harvard.edu robert.graham@childrens.harvard.edu.

    Papers in Europe PMC
  8. 08
    Prasad S10 papers · 2025

    Audentes Therapeutics, San Francisco, California, USA.

    Papers in Europe PMC
  9. 09
    Voermans NC9 papers · 2026

    From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK. nicol.voermans@radboudumc.nl.

    Papers in Europe PMC
  10. 10
    James ES8 papers · 2025

    Audentes Therapeutics, San Francisco, California, USA.

    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; 1 currently recruiting in our sample. 6 trials are registered for centronuclear myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

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: centronuclear 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

Observational and natural-history studies

6 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.

"X-linked centronuclear myopathy" OR "X-linked myotubular myopathy" OR "XLCNM" OR "XLMTM" OR "centronuclear myopathy, X-linked" OR "myotubular myopathy, X-linked, X-linked recessive"

Run this search on Europe PMC

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

"X-linked centronuclear myopathy" OR "X-linked myotubular myopathy" OR "XLCNM" OR "XLMTM" OR "centronuclear myopathy, X-linked" OR "myotubular myopathy, X-linked, X-linked recessive" OR "MTM1"

Recall-expansion terms: MTM1

Interventional trials matched via: phrase (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 · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"centronuclear myopathy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MTM

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 2026-07-26T14:29:52.082Z