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ORPHA:119

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

low confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2E · Beta-sarcoglycan-related LGMD R4 · Beta-sarcoglycanopathy · LGMD due to beta-sarcoglycan deficiency · LGMD type 2E · LGMD2E · Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2E

Publications

1,845

Trials

2

Interventional, condition-specific

Researchers

1,421

Distinct authors in sample

Gene link

SGCB

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of limb girdle muscular characterized by a childhood to adolescent onset of pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, , respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (10)

LGMDR4 · SGCB autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB · autosomal recessive limb-girdle muscular dystrophy type 2E · beta-sarcoglycan-related LGMD R4 · beta-sarcoglycan-related limb-girdle muscular dystrophy R4 · limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency · limb-girdle muscular dystrophy type 2E · muscular dystrophy, limb-girdle, autosomal recessive 4 · muscular dystrophy, limb-girdle, type 2E

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 — SGCB

  2. LiteraturePresent

    1,845 matched papers (1,199 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Elevated circulating creatine kinase activity; Calf muscle pseudohypertrophy; Proximal amyotrophy) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

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

  6. Interventional trialPresent

    2 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 (SGCB).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

23

Associated phenotypes · MONDO:0011423

  • Elevated circulating creatine kinase activity
  • Calf muscle pseudohypertrophy
  • Proximal amyotrophy
  • Shoulder girdle muscle atrophy
  • Limb-girdle muscle weakness

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

Animal models (Monarch / Alliance)

2

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 KifunensineTreatment of beta sarcoglycanopathy · 27/09/2011 · 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?

1,845

1,845 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.

1,845 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).

1,199 in the last 10 years · low confidence

Phrase hits: 321 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,421

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
    Angelini C7 papers · 2025

    Fondazione Ospedale S. Camillo, IRCCS, Venice, Italy.

    Papers in Europe PMC
  2. 02
    Alonso-Pérez J6 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Díaz-Manera J6 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Straub V6 papers · 2026

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

    Papers in Europe PMC
  5. 05
    Weihl CC6 papers · 2026

    Washington University School of Medicine, St. Louis, MO, USA.

    Papers in Europe PMC
  6. 06
    Xie Z6 papers · 2024

    Department of Epidemiology and Biostatistics, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, 610041, China.

    Papers in Europe PMC
  7. 07
    Acharya M5 papers · 2023

    National Institute of Biomedical Genomics, P.O: N.S.S, Kalyani, West Bengal, 741251, India. ma1@nibmg.ac.in.

    Papers in Europe PMC
  8. 08
    Bardhan M5 papers · 2023

    National Institute of Mental Health and Neurosciences, Bangalore, India.

    Papers in Europe PMC
  9. 09
    Mendell JR5 papers · 2025

    Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA.

    Papers in Europe PMC
  10. 10
    Nalini A5 papers · 2023

    National Institute of Mental Health and Neurosciences, Bangalore, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 22 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

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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

22

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

4 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 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 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 — 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.

("Beta-sarcoglycan-related limb-girdle muscular dystrophy R4" OR "Autosomal recessive limb-girdle muscular dystrophy type 2E" OR "Beta-sarcoglycan-related LGMD R4" OR "Beta-sarcoglycanopathy" OR "LGMD due to beta-sarcoglycan deficiency" OR "LGMD type 2E" OR "LGMD2E" OR "Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" OR "Limb-girdle muscular dystrophy type 2E" OR "LGMDR4" OR "SGCB autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB" OR "muscular dystrophy, limb-girdle, autosomal recessive 4" OR "muscular dystrophy, limb-girdle, type 2E") OR ("SGCB" OR "SGCB syndrome" OR "SGCB-related")

Run this search on Europe PMC

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

"Beta-sarcoglycan-related limb-girdle muscular dystrophy R4" OR "Autosomal recessive limb-girdle muscular dystrophy type 2E" OR "Beta-sarcoglycan-related LGMD R4" OR "Beta-sarcoglycanopathy" OR "LGMD due to beta-sarcoglycan deficiency" OR "LGMD type 2E" OR "LGMD2E" OR "Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" OR "Limb-girdle muscular dystrophy type 2E" OR "LGMDR4" OR "SGCB autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB" OR "muscular dystrophy, limb-girdle, autosomal recessive 4" OR "muscular dystrophy, limb-girdle, type 2E"

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: 2 interventional · 4 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 (1845) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:30:06.860Z