Limb-Girdle Muscular Dystrophy — Research Summary
Printed from RareWays (rareways.com.au) on 26 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Generation of two LGMDR4 patients derived induced pluripotent stem cell line carrying the SGCB frameshift mutation (p.Gly129_Arg130insGlnTer).
Villa Chiara et al. — Stem cell research (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42225003/
- 2.
A bio-inspired spiking neural network with adaptive spatiotemporal filtering and depth-modulated synaptic plasticity for robust collision detection.
Ren Yumeng et al. — Neural networks : the official journal of the International Neural Network Society (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/41855882/
- 3.
Clinical presentations and pathophysiological mechanisms of dystroglycanopathy: advancing therapeutic strategies.
Walimbe Ameya S et al. — The Lancet. Neurology (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42309089/
- 4.
Discordant Cardiomyopathy Phenotypes in Siblings With Homozygous FKRP c.1100T>C.
Mahon Noelle et al. — JACC. Case reports (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42171558/
- 5.
Redox-Encoded Proteostasis: Heat Shock Proteins as Integrators of Stress Adaptation and Therapeutic Targets.
Guo Kangmiao et al. — Antioxidants & redox signaling (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42014310/
Clinical Trials — Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Open-Label Extension Study of BBP-418 (Ribitol) for LGMD2I/R9
Active (not recruiting) — Phase 3 — ML Bio Solutions, Inc.
https://clinicaltrials.gov/study/NCT07678775
- 2.
Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I (LGMD2I)
Active (not recruiting) — Phase 3 — ML Bio Solutions, Inc.
https://clinicaltrials.gov/study/NCT05775848
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Limb-Girdle Muscular Dystrophy
Limb-Girdle Muscular Dystrophy encompasses more than 30 distinct genetic subtypes of progressive muscle disease affecting the shoulder and hip girdles. Symptoms typically begin in childhood or early adulthood and include proximal muscle weakness and wasting, with variable rates of progression. Gene therapy trials are active for several subtypes.
Most Recent Research
Limb-Girdle Muscular Dystrophy Recessive type 4 (LGMDR4) is an autosomal recessive disorder caused by mutations in the SGCB gene and characterized by progressive proximal muscle weakness, often accompanied by respiratory and cardiac involvement. We generated two induced pluripotent stem cell (iPSC) lines from PBMCs of two related LGMDR4 patients carrying an eight-nucleotide duplication (c.377_384dupCAGTAGGA) in exon 3 of SGCB, resulting in a frameshift mutation (p.Gly129_Arg130insGlnTer). The iPSC lines exhibit typical undifferentiated morphology, express key stem cell-associated markers, differentiate into all three germ layers, and maintain a normal karyotype, providing a valuable model for studying disease mechanisms and developing therapies for LGMDR4.
Common Questions
What is Limb-Girdle Muscular Dystrophy?
Limb-Girdle Muscular Dystrophy encompasses more than 30 distinct genetic subtypes of progressive muscle disease affecting the shoulder and hip girdles. Symptoms typically begin in childhood or early adulthood and include proximal muscle weakness and wasting, with variable rates of progression. Gene therapy trials are active for several subtypes.
How many clinical trials are available for Limb-Girdle Muscular Dystrophy?
RareWays currently indexes 47 clinical trials for Limb-Girdle Muscular Dystrophy, of which 6 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Limb-Girdle Muscular Dystrophy come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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