Limb-girdle muscular dystrophies

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. More than 20 genes with autosomal recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H) have been mapped/identified to date.


Clinical trials on LGMD ongoing at the Institute:

  • GNT-015-FKRP: Prospective, longitudinal study of the natural history and functional status of patients with limb girdle muscular dystrophy 2I
  • Jain COS-2: An International Clinical Outcome Study of Dysferlinopathy
  • ATA-001-FKRP: A Phase 1-2 Multicenter Study (2 stages) to Evaluate the Safety and Efficacy of Intravenous GNT0006, Adeno-Associated Viral Vector Carrying the FKRP Gene, in Patiens with FKRP-Related Limb-Girdle Muscular Dystrophy (LGMD R9, formely LGMD2I)



Jain COS-2


Intervention GNT0006
Pathology LGMD R9 LGMD R2 LGMD R9
Principal investigator Tanya Stojkovic Tanya Stojkovic Tanya Stojkovic
Sponsor Généthon AIM ATAMYO Therapeutics
Study status Active Active Active
Recruitment status Completed Completed Ongoing
Population Adult Adult Adult
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