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EFACTS (the European Friedreich’s Ataxia Consortium for Translational Studies) assembles a body of expertise to adopt a translational research strategy for the rare autosomal recessive neurological disease, Friedreich’s ataxia (FRDA). FRDA is a severely debilitating disease that leads to loss of the ability to walk and dependency for all activities. Some patients have cardiomyopathy that can cause premature death, visual and auditory loss, kyphoscoliosis, pes cavus, diabetes.  Onset is usually in childhood, but it may vary from infancy to adulthood. FRDA involves child health and ageing aspects. FRDA affected individuals and clinical specialists are dispersed. This is a hindrance for patients to receive the care they need, and for clinicians and researchers to make progress.

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Patients 

What is the EFACTS patient registry?
The EFACTS patient registry is a multi-centre, multi-national observational study. It is funded by the 7th framework programme of the European Union.

What are the aims of the EFACTS patient registry?
A major milestone for EFACTS will be to recruit at least 600 patients of the European Friedreich’s Ataxia population by 2014. The aims of the EFACTS patient registry are to:

• Obtain clinical data on a wide spectrum of individuals
• Relate clinical characteristics with genetic factors (‘genetic modifiers’), data derived from the study of biomaterials (blood and urine) and imaging data
• Provide biomaterials for research studies
• Develop novel measures to track disease progression, as well as improve existing tools
• Allow fast patient recruitment for future therapeutic studies
• Offer new therapeutic interventions to patients

Why is the EFACTS patient registry important?
EFACTS’ strength lies in its collaborative approach, providing an extensive clinical and biological data repository to facilitate studies that could not otherwise have been possible.

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