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
- ANO5 related myopathy : Clinical and genetic findings in a large European cohort (anoctamin-5 related LGMD R12)
- Jain COS-2: An International Clinical Outcome Study of Dysferlinopathy
- ATA-002-GSAR: A prospective, longitudinal, interventional natural history study of children and young adults with Gamma-Sarcoglycanopathy (LGMDR5)
- 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)
Acronym |
GNT-015-FKRP |
ANO5 related myopathy |
Jain COS-2 |
ATA-002-GSAR |
ATA-001-FKRP |
| Pathology | LGMD R9 | LGMD R2 | LGMD R9 | ||
| Principal investigator | Tanya Stojkovitck | Giorgia Querin | Tanya Stojkovitck | Tanya Stojkovitck | Tanya Stojkovitck |
| Sponsor | Généthon | AIM | ATAMYO Therapeutics | ATAMYO Therapeutics | |
| Study status | Ongoing | Ongoing | Ongoing | In preparation | In preparation |
| Recruitment status | Closed | Ongoing | Ongoing | In preparation | In preparation |
| Population | Adult | Adult | Adult | Adult | Adult |
| + infos on clinicaltrials.gov | + infos on clinicalmtrial.gov | + infos on clinicaltrial.gov |
