1. Global FKRP Patient Registry

    • Dr. Volker Straub at Newcastle upon Tyne University (Newcastle, UK)
    • Since 2012

    • Description

      This grant pays for the coordinator of the registry and the maintenance of the database of patients. The registry is part of Treat-NMD, a network with the mission of ensuring that the most promising new neuromuscular therapies reach patients as quickly as possible.

    • Outcome

      In March 2024, 965 patients from 54 countries had registered since 2011. The proportion of patients with a genetically confirmed diagnosis was 49.5%.

    • Articles:

      1. Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease. Thompson R, Robertson A, Lochmüller H. Adv Exp Med Biol. 2017 1031:97-124.
      2. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Murphy L, Schreiber-Katz O, Rafferty K, et al. Ann Clin Transl Neurol. 2020 5:757-766.
      3. Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases. Richardson M, Mayhew A, Muni-Lofra R, Murphy L, Straub V. J Clin Med. 2021 23:5517-5526.

    • Partnerships:

      The CureLGMD2i foundation

  2. Dystroglycanopathies: Patient and Family Conference

    • Dr. Katherine Mathews at the University of Iowa, Carver College of Medicine (Iowa City, IA)
    • Since 2012

    • Description

      The “Patient and Family Conference” provides an opportunity for individuals with LGMD2I and their families to receive up to date information about research and clinical developments, and about various issues related to living with LGMD2I, including public policy, reimbursement, psychology, etc. It also provides a forum to connect with other individuals affected by LGMD2I and feel part of an engaging, kind, and safe community. In addition, it facilitates the enrollment in the longest running natural history study in LGMD2I.

    • Partnerships:

      The CureLGMD2i foundation

  3. Investigation of the regulation of FKRP genetic expression

    • Dr. Isabelle Richard at the Généthon (Evry, France)
    • since 2019

    • Description:

      This project looks at the mechanisms that regulate the expression of the FKRP gene. Understanding the underpinnings of FKRP expression may lead to the development of new therapies.

    • Partnerships:

      The CureLGMD2i foundation

  4. Identification of biomarkers for FKRP deficiency

    • Dr. Isabelle Richard at the Généthon (Evry, France)
    • since 2020

    • Description:

      This project will study new clinical biomarkers for LGMD2I in cell and patients’ clinical samples.

    • Partnerships:

      The CureLGMD2i foundation

  5. Testing a new multifunctional AAV gene therapy for LGMD2I/R9

    • Dr. Paul Martin at the Research Institute at Nationwide Children’s Hospital (Columbus, OH)
    • since 2024

    • Description:

      A bicistronic AAV gene therapy was shown to be highly effective in restoring muscle functions in early stage LGMD2I. This grant focuses on testing the effectiveness of this new type of gene therapy in advanced LGMD2I. This project may help begin to answer whether gene therapy brings benefit to older patients with advanced LGMD2I.

    • Partnerships:

      The CureLGMD2i foundation

  6. Examining the clinical significance of FKRP’s regulation of fibronectin sialylation

    • Dr. Peter Currie at the Australian Regenerative Medicine Institute, Monash university (Clayton, AUS)
    • since 2024

    • Description:

      Previous work by Dr. Currie concluded that FKRP is needed to process Fibronectin and its binding with Collagen. Fibronectin and collagen are 2 essential molecular players that help to make the muscle membrane resistant to contractions. This project will look at the clinical significance of this discovery. This is an important study because it would highlight yet another role of FKRP in making the muscle resistant to contraction.

    • Partnerships:

      The CureLGMD2i foundation