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ORPHA:62

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

low confidenceDisorder

Also known as: Alpha-sarcoglycan-related LGMD R3 · Alpha-sarcoglycanopathy · Autosomal recessive limb-girdle muscular dystrophy type 2D · LGMD due to alpha-sarcoglycan deficiency · LGMD type 2D · LGMD2D · Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2D

Publications

1,391

Trials

3

Interventional, condition-specific

Researchers

1,571

Distinct authors in sample

Gene link

SGCA

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of limb-girdle muscular characterized by childhood onset of proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.

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 (7)

DMDA2 · SGCA autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA · limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency · limb-girdle muscular dystrophy type 2D · muscular dystrophy, limb-girdle, autosomal recessive 3 · muscular dystrophy, limb-girdle, type 2D

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SGCA

  2. LiteraturePresent

    1,391 matched papers (901 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. EMG: myopathic abnormalities; Dilated cardiomyopathy; Elevated circulating creatine kinase activity) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. Kifunensine Source

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov

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 (SGCA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

33

Associated phenotypes · MONDO:0011968

  • EMG: myopathic abnormalities
  • Dilated cardiomyopathy
  • Elevated circulating creatine kinase activity
  • Ankle flexion contracture
  • Limb-girdle muscular dystrophy

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)

2

Designations · no FDA orphan-indication approval yet

  • EMA KifunensineTreatment of alpha-sarcoglycanopathy · 27/09/2011 · WithdrawnEMA designation
  • EMA adeno-associated viral vector containing the human alpha-sarcoglycan geneTreatment of alpha-sarcoglycanopathy · 07/11/2008 · 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?

1,391

1,391 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.

1,391 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).

901 in the last 10 years · low confidence

Phrase hits: 453 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,571

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
    Richard I11 papers · 2024

    Généthon INSERM, U951, INTEGRARE Research Unit, Univ Evry, Université Paris-Saclay, 91002 Evry, France.

    Papers in Europe PMC
  2. 02
    Straub V9 papers · 2025

    John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  3. 03
    Sandonà D7 papers · 2025

    Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy.

    Papers in Europe PMC
  4. 04
    Bruno C6 papers · 2026

    Center of Translational and Experimental Myology, Istituto Giannina Gaslini, Genova, Italy. Electronic address: claudiobruno@gaslini.org.

    Papers in Europe PMC
  5. 05
    Diaz-Manera J6 papers · 2025

    Newcastle University, Newcastle, UK.

    Papers in Europe PMC
  6. 06
    Panicucci C6 papers · 2026

    Center of Translational and Experimental Myology, Istituto Giannina Gaslini, Genova, Italy.

    Papers in Europe PMC
  7. 07
    Poupiot J6 papers · 2024

    INSERM, U951, INTEGRARE research unit, Evry, F-91002, France.

    Papers in Europe PMC
  8. 08
    Baratto S5 papers · 2026

    Center of Translational and Experimental Myology, Istituto Giannina Gaslini, Genova, Italy.

    Papers in Europe PMC
  9. 09
    Carotti M5 papers · 2025

    Department of Biomedical Sciences, University of Padova, Via U. Bassi 58/b 35131 Padova, Italy.

    Papers in Europe PMC
  10. 10
    Díaz-Manera J5 papers · 2025

    Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Department of Medicine, Barcelona 08041, Spain.

    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; none in our sample are currently recruiting. 21 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 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th 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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: limb-girdle muscular dystrophy

21

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

1 observational study matches 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 — 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.

("Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3" OR "Alpha-sarcoglycan-related LGMD R3" OR "Alpha-sarcoglycanopathy" OR "Autosomal recessive limb-girdle muscular dystrophy type 2D" OR "LGMD due to alpha-sarcoglycan deficiency" OR "LGMD type 2D" OR "LGMD2D" OR "Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency" OR "Limb-girdle muscular dystrophy type 2D" OR "DMDA2" OR "SGCA autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA" OR "muscular dystrophy, limb-girdle, autosomal recessive 3" OR "muscular dystrophy, limb-girdle, type 2D") OR ("SGCA" OR "SGCA syndrome" OR "SGCA-related")

Run this search on Europe PMC

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

"Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3" OR "Alpha-sarcoglycan-related LGMD R3" OR "Alpha-sarcoglycanopathy" OR "Autosomal recessive limb-girdle muscular dystrophy type 2D" OR "LGMD due to alpha-sarcoglycan deficiency" OR "LGMD type 2D" OR "LGMD2D" OR "Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency" OR "Limb-girdle muscular dystrophy type 2D" OR "DMDA2" OR "SGCA autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA" OR "muscular dystrophy, limb-girdle, autosomal recessive 3" OR "muscular dystrophy, limb-girdle, type 2D"

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 · 1 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 (1391) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:16:59.675Z