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ORPHA:565837

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

low confidenceDisorder

Also known as: LGMD type R23 · Laminin subunit alpha 2-related LGMD R23 · Laminin subunit alpha 2-related late-onset muscular dystrophy

Publications

3,881

Trials

0

Interventional, condition-specific

Researchers

107

Distinct authors in sample

Gene link

LAMA2

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare limb-girdle muscular characterized by childhood to adult onset of slowly limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild , , migraine, or cardiopulmonary involvement. Occurrence of dilated has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 · muscular dystrophy, limb-girdle, autosomal recessive 23

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — LAMA2

  2. LiteraturePresent

    3,881 matched papers (2,874 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Elbow flexion contracture; Areflexia; Decreased nerve conduction velocity) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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; 24 for broader category limb-girdle 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 (LAMA2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

23

Associated phenotypes · MONDO:0029136

  • Elbow flexion contracture
  • Areflexia
  • Decreased nerve conduction velocity
  • Neck flexor weakness
  • Delayed ability to walk

Showing 5 of 23 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

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?

3,881

3,881 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.

3,881 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).

2,874 in the last 10 years · low confidence

Phrase hits: 5 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

107

Distinct author names in 5 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
    Abdelmoneim Elnagheeb M1 paper · 2025

    Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

    Papers in Europe PMC
  2. 02
    Anastasakis A1 paper · 2023

    Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Kallithea, Greece.

    Papers in Europe PMC
  3. 03
    Anisimova I1 paper · 2025

    Research Centre for Medical Genetics, Moscow 115522, Russia.

    Papers in Europe PMC
  4. 04
    Aral B1 paper · 2023

    Laboratoire de Génétique Chromosomique et Moléculaire, Pôle Biologie, CHU de Dijon, Dijon, France.

    Papers in Europe PMC
  5. 05
    Beggs AH1 paper · 2025

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

    Papers in Europe PMC
  6. 06
    Bertini E1 paper · 2025

    Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Besnard T1 paper · 2023

    Service de Génétique Médicale, Nantes Université, CHU Nantes, Nantes, France.

    Papers in Europe PMC
  8. 08
    Boland A1 paper · 2023

    Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France.

    Papers in Europe PMC
  9. 09
    Bonneau D1 paper · 2023

    Service de Génétique Médicale, CHU d'Angers, Angers, France.

    Papers in Europe PMC
  10. 10
    Bönnemann CG1 paper · 2025

    Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.

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

Data as of 11 September 2026 · last trial check 11 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.

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

Broader category: limb-girdle muscular dystrophy

24

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 2026-07-30

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 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 — 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.

("Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23" OR "LGMD type R23" OR "Laminin subunit alpha 2-related LGMD R23" OR "Laminin subunit alpha 2-related late-onset muscular dystrophy" OR "muscular dystrophy, limb-girdle, autosomal recessive 23") OR ("LAMA2" OR "LAMA2 syndrome" OR "LAMA2-related")

Run this search on Europe PMC

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

"Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23" OR "LGMD type R23" OR "Laminin subunit alpha 2-related LGMD R23" OR "Laminin subunit alpha 2-related late-onset muscular dystrophy" OR "muscular dystrophy, limb-girdle, autosomal recessive 23"

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

Parent-category trials query:

"limb-girdle muscular dystrophy"

Query health: ok — strategies attempted: phrase; 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 (3881) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T18:24:41.432Z