ORPHA:267
Calpain-3-related limb-girdle muscular dystrophy R1
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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,072
90.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,398
Distinct authors in sample
Gene link
CAPN3
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009675
- MeSH:C535895
- OMIM:253600
- UMLS:C1869123
- NCIT:C142079
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — CAPN3
- LiteraturePresent
1,072 matched papers (517 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
1,072
1,072 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.
1,072 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).
517 in the last 10 years · high confidence · 90.4th percentile (publications denominator)
Phrase hits: 1,072 · MeSH hits: 0
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.
- 01Angelini C8 papers · 2025
Department of Neuroscience, University of Padova, Padua. corrado.angelini@unipd.it.
Papers in Europe PMC - 02López de Munain A7 papers · 2023
Neuroscience Area,Biodonostia Research Institute,San Sebastian,Spain.
Papers in Europe PMC - 03Vorgerd M7 papers · 2026
Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.
Papers in Europe PMC - 04Nishino I6 papers · 2025
Department of Neuromuscular Research, National Institute of Neurology, National Center of Neurology and Psychiatry.
Papers in Europe PMC - 05Ono Y6 papers · 2025
Calpain Project, Tokyo Metropolitan Institute of Medical Science, 156-8506 Tokyo, Japan.
Papers in Europe PMC - 06Schlaffke L6 papers · 2026
Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.
Papers in Europe PMC - 07Duno M5 papers · 2025
Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark. mdunoe@rh.dk
Papers in Europe PMC - 08Hata S5 papers · 2025
Calpain Project, Tokyo Metropolitan Institute of Medical Science, 156-8506 Tokyo, Japan.
Papers in Europe PMC - 09Rohm M5 papers · 2026
Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.
Papers in Europe PMC - 10Südkamp 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 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.
high 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.
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
- NCT07711730·RECRUITING·Telecare Psychosocial and Cognitive Intervention for Children and Adolescents With Limb-Girdle Muscular Dystrophy
Conditions: Limb-Girdle Muscular Dystrophy · Social Competence · Self Esteem · Health Related Quality of Life·Matched via name phrase
- NCT05230459·RECRUITING·A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
Conditions: Limb Girdle Muscular Dystrophy · Limb-Girdle Muscular Dystrophy Type 2 · LGMD2I · Muscular Dystrophy·Matched via name phrase
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
- NCT05989620·RECRUITING·Long-Term Development of Muscular Dystrophy Outcome Assessments
Conditions: LGMD1B · LGMD1C · LGMD1D · LGMD1E·Matched via name phrase
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 2026-07-26This 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"
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" OR "CAPN3" OR "autosomal recessive limb-girdle muscular dystrophy"
Recall-expansion terms: CAPN3, autosomal recessive limb-girdle muscular dystrophy
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: suspect — strategies attempted: phrase, recall-expansion; 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