FKRP mutation (Dystroglycanopathies) registry
The International Registry for patients with FKRP mutations has been officially launched on 1st March 2011. The registry is a patient initiated registry and designed for patients with LGMD2I, MDC1C or other conditions caused by a mutation in the FKRP gene. The FKRP registry is aimed at both, collecting data for natural history studies or other research studies, as well as being a source for potential identification of patients suitable for specific clinical trials or scientific studies. The patients themselves would only be identified by those explicitly appointed by the principle investigator of the registry, who are the only persons knowing the patients’ personal details. In addition to the above objectives, the registry will support other activities to improve patient care and establish a good standard of care worldwide.
As part of the registry, the patients consent online for their nominated doctor to enter a part of their medical data, including respiratory status, cardiac scans, genetic mutation, muscle strength and other outcome measures. To make sure that the data in the registry is correct and up-to-date, an email will be generated on an annual basis to both patient and doctor to prompt updating of their parts of the data.
All information will be treated confidentially and will be encrypted and stored on a secure server; the data will be kept for an indefinite period in computer servers located in Munich, under the responsibility of Dr Maggie Walter.
To register visit www.FKRP-registry.org
Please also read the brochure for further information about the registry.