Global FKRP Registry
The Global FKRP Registry is an international registry that collects genetic and clinical data about persons affected by conditions caused by mutations in the FKRP (Fukutin Related Protein) gene, namely Limb Girdle Muscular Dystrophy type R9 (LGMDR9, formerly known as LGMD2I), and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS).
The information collected will help with the identification of patients suitable for clinical trials and allow them to participate more easily.
Patients from anywhere in the world can register.
Since patients with FKRP mutations are rare, every single person counts!
If you have Congenital Muscular Dystrophy (CMD) not related to an FKRP mutation, or if the underlying gene mutation is not yet known, please register on the CMD International Registry (CMDIR).
In May 2024, the Global FKRP Registry was delighted to co-organise and participate in the first European Limb Girdle Muscular Dystrophy type 2I/R9 (LGMD2I/LGMDR9) Community Conference, held in Amsterdam, the Netherlands. The event was a gathering of individuals living in Europe and the United Kingdom affected by LGMD2I/R9, including patients, their families and clinical experts, to meet, share experiences and learn about progress in research and clinical trials. The slide presentations of contributing speakers are below and a link to the video footage is as follows:
- Video footage on YouTube
- Volker Straub: Introduction
- Kelly Brazzo: Patient advocacy
- Lindsay Murphy: Global FKRP Registry
- Meredith James: Physiotherapy
- Hedwige Van Steen: Powerchair sports
- Laetitia Mercier and Ramses Deforce: Sailing experience
- Robert Muni-Lofra: Respiratory management
- Karim Wahbi: Cardiac management
- Gorka Fernandez: Clinical trials
- John Vissing: Fortify study ML Bio Solutions
- Andreas Rosenberger: Natural history studies
The registry is coordinated by:
The registry is funded by:
The registry is affiliated to:
