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ORPHA:267

Calpain-3-related limb-girdle muscular dystrophy R1

high confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2A · Calpain-3-related LGMD R1 · LGMD type 2A · LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency · Limb-girdle muscular dystrophy type 2A · Primary calpainopathy

Publications

3,555

90.6th percentile

Trials

0

Interventional, condition-specific

Researchers

1,398

Distinct authors in sample

Gene link

CAPN3

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of limb girdle muscular characterized by a variable age of onset of , typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (10)

CAPN3 autosomal recessive limb-girdle muscular dystrophy · Leyden-Moebius muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3 · autosomal recessive limb-girdle muscular dystrophy type 2A · calpainopathy · limb-girdle muscular dystrophy due to calpain deficiency · limb-girdle muscular dystrophy type 2A · muscular dystrophy, limb-girdle, autosomal recessive 1 · muscular dystrophy, limb-girdle, type 2A · primary calpainopathy

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CAPN3

  2. LiteraturePresent

    3,555 matched papers (2,144 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Elevated circulating creatine kinase activity; Tip-toe gait; Wrist flexion contracture) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. adeno-associated viral vector containing the human calpain 3 gene 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 (CAPN3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

33

Associated phenotypes · MONDO:0009675

  • Elevated circulating creatine kinase activity
  • Tip-toe gait
  • Wrist flexion contracture
  • Difficulty climbing stairs
  • Gait disturbance

Showing 5 of 33 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA adeno-associated viral vector containing the human calpain 3 geneTreatment of calpainopathy · 06/04/2006 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

3,555

3,555 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.

3,555 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).

2,144 in the last 10 years · high confidence · 90.6th percentile (publications denominator)

Phrase hits: 1,072 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,398

Distinct author names in 200 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
    Angelini C8 papers · 2025

    Department of Neuroscience, University of Padova, Padua. corrado.angelini@unipd.it.

    Papers in Europe PMC
  2. 02
    López de Munain A7 papers · 2023

    Neuroscience Area,Biodonostia Research Institute,San Sebastian,Spain.

    Papers in Europe PMC
  3. 03
    Vorgerd M7 papers · 2026

    Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.

    Papers in Europe PMC
  4. 04
    Nishino I6 papers · 2025

    Department of Neuromuscular Research, National Institute of Neurology, National Center of Neurology and Psychiatry.

    Papers in Europe PMC
  5. 05
    Ono Y6 papers · 2025

    Calpain Project, Tokyo Metropolitan Institute of Medical Science, 156-8506 Tokyo, Japan.

    Papers in Europe PMC
  6. 06
    Schlaffke L6 papers · 2026

    Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.

    Papers in Europe PMC
  7. 07
    Duno M5 papers · 2025

    Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark. mdunoe@rh.dk

    Papers in Europe PMC
  8. 08
    Hata S5 papers · 2025

    Calpain Project, Tokyo Metropolitan Institute of Medical Science, 156-8506 Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    Rohm M5 papers · 2026

    Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.

    Papers in Europe PMC
  10. 10
    Südkamp N5 papers · 2026

    Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.

    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. 5 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 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.

high 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

Observational and natural-history studies

5 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (1)

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 Calpain-3-related limb-girdle muscular dystrophy R1 — 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.

("Calpain-3-related limb-girdle muscular dystrophy R1" OR "Autosomal recessive limb-girdle muscular dystrophy type 2A" OR "Calpain-3-related LGMD R1" OR "LGMD type 2A" OR "LGMD2A" OR "Limb-girdle muscular dystrophy due to calpain deficiency" OR "Limb-girdle muscular dystrophy type 2A" OR "Primary calpainopathy" OR "CAPN3 autosomal recessive limb-girdle muscular dystrophy" OR "Leyden-Moebius muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3" OR "calpainopathy" OR "muscular dystrophy, limb-girdle, autosomal recessive 1" OR "muscular dystrophy, limb-girdle, type 2A") OR ("CAPN3" OR "CAPN3 syndrome" OR "CAPN3-related")

Run this search on Europe PMC

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

"Calpain-3-related limb-girdle muscular dystrophy R1" OR "Autosomal recessive limb-girdle muscular dystrophy type 2A" OR "Calpain-3-related LGMD R1" OR "LGMD type 2A" OR "LGMD2A" OR "Limb-girdle muscular dystrophy due to calpain deficiency" OR "Limb-girdle muscular dystrophy type 2A" OR "Primary calpainopathy" OR "CAPN3 autosomal recessive limb-girdle muscular dystrophy" OR "Leyden-Moebius muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3" OR "calpainopathy" OR "muscular dystrophy, limb-girdle, autosomal recessive 1" OR "muscular dystrophy, limb-girdle, type 2A"

Study-type breakdown: 0 interventional · 5 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

Ingested 2026-07-26T13:07:51.311Z