Queen Square Centre for Neuromuscular Diseases


Global FKRP registry (Limb Girdle Muscular Dystophy type 2I and Congenital Muscular Dystrophy type 1)

Status Ongoing
Funder LGMD2I
CI Professor Volker Straub
Sites Newcastle
More information

The Global FKRP Registry is for patients with conditions caused by a mutation in the FKRP* gene. This mutation causes Limb Girdle Muscular Dystrophy type 2I (LGMD2I) and the rare conditions:

  • Congenital Muscular Dystrophy type 1C
  • Muscle Eye Brain Disease
  • Walker-Warburg Syndrome

The Registry aims to:

  • Help recruitment into clinical trials by identifying patients more readily
  • Speed up research
  • Provide more knowledge about the natural history and commonness of FKRP-related disorders
  • Keep patients informed

The Registry was set-up in 2011 as an online patient driven registry. It is currently supported by the LGMD2I Research Fund.

*Fukutin-Related Protein