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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.

Who is eligible to participate in the EFACTS patient registry?
The patient registry is open to anyone with a genetically confirmed diagnosis of Friedreich’s Ataxia.

How are participants recruited?
Participants are recruited via their local EFACTS study site. Use the Contact us form to request more information.

Where are participants examined?
Participants are examined at a local EFACTS study site. Participants will be examined at a baseline assessment and again at follow-up visits for a maximum of 3 years.

What kinds of tests and assessments are performed?
  • Information on demography, family and medical history, medication, comorbid conditions, activities of daily living, and quality of life is collected
  • Brief neurological, cognitive examinations
  • Assessments of ataxic symptoms
  • Collection of biosamples (blood and urine) which can be used to confirm the Frataxin mutation and identify biomarkers/genetic modifiers of the disease
Confidentiality and data protection
Data entry and management of the EFACTS database are carried out using a web portal which can only be accessed by authorised persons. An essential safety aspect of the project is the processing of data in an exclusively pseudonymised manner to ensure that nobody other than the study site staff can trace back the person’s identity. A pseudonym (a series of 9 digits) is created from the participant’s personal data. The personal data transmitted during the pseudonymisation process are held only for a short time in the memory of a large computer (‘server’) and are then erased from the system. Following this, all data entry and use of data is exclusively carried out under the assigned pseudonym. All study site staff involved in looking after the participant during this study abide by medical confidentiality and are obliged to comply with data protection.

Further information on EFACTS can be obtained by contacting us.

Principal investigator: Jörg B. Schulz, MD 

Department of Neurology   
University Hospital Aachen  
Pauwelsstr. 30
52074 Aachen
Germany