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11th March 2011
International FKRP registry launched!

The International Registry for individuals with FKRP mutations was officially launched on 1st March 2011. The registry is a patient-initiated registry and is designed for people with LGMD2I, MDC1C or other conditions caused by a mutation in the FKRP gene. The FKRP registry aims to collect 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.  In addition to these objectives, the registry will support other activities to improve patient care and establish a good standard of care worldwide.

If you are an individual affected by LGMD type 2I or the congenital muscular dystrophy type MDC1C or another FKRP-related condition, you can register in the registry now. If you are a doctor who sees these patients, you can encourage your patients to register. The data in the registry is held securely and patients are only identifiable to those explicitly appointed by the principal investigator of the registry, who are the only people who know the patients’ personal details.

LGMD section now live on TREAT-NMD website
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In parallel with the launch of the FKRP registry, which covers one specific type of LGMD, we have added a new disease section to the TREAT-NMD website. The limb girdle muscular dystrophies are a group of muscular dystrophies which share similar symptoms, although they are now known to be caused by different genetic defects. By creating a dedicated section on the website our aim is to give patients and healthcare professionals access to a wide range of information about the conditions, including links to best practice care, patient registries, patient support groups, and clinical research information.

The LGMD section and all our other disease-specific sections will continue to expand over the coming months as we increase the amount of information available. There are many excellent online resources providing information about neuromuscular diseases and our aim is to provide a means of accessing these existing resources as well.

EPNS training workshop: advances in diagnosis and treatment of neuromuscular disorders
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As part of the 9th European Paediatric Neurology Society Congress in Cavtat, a training workshop for EPNS attendees focusing on advances in diagnosis and treatment of neuromuscular disorders is taking place on Tuesday 10th May.

The workshop is being held in association with TREAT-NMD and diseases covered include mitochondrial encephalomyopathies, limb girdle muscular dystrophies, congenital muscular dystrophies, neuromuscular junction disorders and congenital myopathies.

Registration for the EPNS congress is now open via their dedicated website. For further details about the neuromuscular workshop, click the 'more' link below.


CMD scientific resources now available online
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Online scientific resources are now available for researchers in the field of congenital muscular dystrophy (CMD). Two new links were created for researchers working to develop potential CMD treatments.

In close collaboration with Cure CMD, a summary of mouse models for the different CMD diseases with links to detailed descriptions was uploaded.

Three biobanks for cell lines and tissues specimens are listed with contact links.

In addition, Cure CMD and TREAT-NMD are working with key scientists to develop standard assay protocols for the Dyw murine model of Laminin Alpha 2 Deficient CMD (MDC1A, Merosin Deficient CMD), the best characterized of the CMD mouse models. Once finalized, the protocols will be also uploaded on these pages as pdfs.The availability of such protocols will increase comparability and reproducibility of laboratory results and therefore facilitate the discovery of efficient treatments.

The Dyw murine model has been recently deposited at Jackson Laboratories. After rederivation and genomic analysis, a small breeding colony will be maintained through a Department of Defense grant for expedited access to live animals.

Upcoming meetings
Past newsletters
TREAT-NMD conference 2011
11th March 2011
TREAT-NMD newsletter no. 96
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