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).
Natural History Study of Limb-Girdle Muscular Dystrophy 2I Patients (May 2019)
The Natural History Study of patients with Limb-Girdle Muscular Dystrophy 2I (LGMD2I, also known as LGMDR9) is anticipated to open in Summer 2019
. The study is led by Professor John Vissing, Copenhagen, Denmark and is sponsored by Généthon
The study is a prospective and longitudinal Natural History Study intended to better characterize the LGMD2I disease pathology and progression. The Natural History Study will recruit 60 patients and the duration of participation will be up to 24 months. The study will be held in France (Paris), Denmark (Copenhagen) and the UK (Newcastle). The main inclusion criteria are as follows:
It is anticipated that the Natural History Study will be followed by a Phase I/II Gene Therapy Clinical Trial. Recruitment for the Gene Therapy Clinical Trial will be aided by but not limited to participants of the Natural History Study. In addition, participation in the Natural History Study does not automatically mean that a patient will meet the inclusion criteria of the Gene Therapy Clinical Trial.
For further information about the Natural History Study, for the contact details of the specific trial sites and for up-to-date information on recruitment status, please visit ClinicalTrials.gov.
Newsletter (October 2018)
The latest newsletter (Issue 7) is now available to download.
“It is a wonderful idea. Knowing that there is all this work going on gives us hope for the future.”
Carol and Susan, sisters with LGMDR9