Introducing the Dysferlinopathy Natural History Study

  • Overall Principal Investigator
  • Kate Bushby
    Kate Bushby
    Prof. Kate Bushby MD FRCP is a Professor of Neuromuscular Genetics. She is a...
  • Laura Rufibach
    Laura Rufibach
    Dr. Rufibach is a senior member of the Jain Foundation Scientific Advisory Board, which is...
  • Jain Foundation The Jain Foundation is a non-profit foundation whose mission is to cure muscular dystrophies caused...

An International Clinical Outcome Study for Dysferlinopathy (LGMD2B/Miyoshi Myopathy).

This is an opportunity for patients with dysferlinopathies to participate in a clinical research study which is being performed in 14 centre's in worldwide:Europe (UK- Newcastle; Spain- Barcelona and Sevilla; Germany- Berlin and Munich; Italy- Padova; France- Paris and Marseille), USA (Charlotte, NC; Columbus, OH; Washington, DC; St.Louis, MO), Japan (Tokyo) and Australia (Sydney).

The aim of this "Clinical Outcome Study" is to determine the clinical outcome measures required for future clinical trials characterize the disease progression of dysferlinopathy and collect biological samples for the identification of disease markers that are needed to non-invasively monitor the disease during clinical trials. Without this information, effective clinical trials cannot be performed.

This study is recruiting a large number (at least 150) of genetically confirmed dysferlinopathy patients aged 10 years or older, who are ambulant or non-ambulant. Participants will be assessed at 6 visits over 3 years via medical, physiotherapy, and MRI/MRS assessments, as well as standard blood tests. Optionally, the participants can donate blood samples and a skin sample for the biobank, with the aim to be used in the identification of disease markers and other approved research.

All sites are active, but all sites have reached their recruitment target and are therefore now closed for enrollment.

For further information on this study, including contact details:

This study is coordinated by Dr. Laura Rufibach of the Jain Foundation in the US and Prof. Kate Bushby's team at Newcastle University in the UK, with the Newcastle upon Tyne Hospitals NHS Foundation Trust being the overall responsible hospital.

Oversight and funding for this study is being provided by the Jain Foundation, a non-profit foundation dedicated to finding therapies for dysferlinopathies (LGMD2B/Miyoshi Myopathy).

Overall Principal Investigator: Prof Kate Bushby

Jain Foundation:  Dr Laura Rufibach

Study Logos

12 Apr 2017