Patient-reported, health economic and psychosocial outcomes in Friedreich Ataxia

Background and aims

Friedreich's ataxia is the most common inherited ataxia disease in Europe, with an estimated prevalence of 2 to 4 cases per 100 000 people. A genetic mutation underlies almost all Friedreich's ataxia disorders. They are characterized by muscle weakness, balance disorders, coordination difficulties, loss of sensibility, and speech disorders (dysarthria), among other symptoms. The clinical onset of Friedreich's ataxia very often occurs around puberty. However, in a few cases, the symptoms of Friedreich's ataxia also develop in adulthood. In its typical form, Friedreich's ataxia leads to severe impairment in early adulthood with significant functional impairment and wheelchair dependence. The increasing functional deficits in people with FA are therefore associated with a reduced health-related quality of life and a growing need for care and support. However, there is little evidence on the impact of Friedreich's ataxia on health-related quality of life, psychosocial health, and health care utilization and costs.

The PROFA collaborative project aims to investigate the impact of Friedreich's ataxia on patient-related, health economic, and psychosocial outcomes using a patient-centred e-health app for outpatient data collection (self-reported data collection via an app). In doing so, important and profound insights into the everyday life of patients with Friedreich's ataxia will be gained. Based on these findings, improvements in the treatment, care and everyday life of those affected will be derived.


The PROFA collaborative project is a prospective observational study based on

  • a baseline survey by face-to-face interviews in six study centers (DZNE site Bonn, RWTH University Aachen, University of Innsbruck, LMU Munich, University Hospital Tübingen, Paris Brain Center) and
  • a subsequent app-based data collection via an e-health app.

In the app-based data collection, subjects will complete questionnaires and take tests daily to monthly over a six-month period. A new scale for the psychosocial impact of hearing and speech disorders in FA ("COM-ATAX") will also be developed and tested before patient recruitment.

Principal investigator:: Dr. Bernhard Michalowsky
Recruitment start: 01 April 2023
Study start: 01 June 2023
Status: multi centric, study in preparation

Project consortium

Bernhard Michalowsky
(Consortium Coordinator)
Deutsches Zentrum für Neurodegenerative Erkrankungen e.V. (DZNE), Rostockbernhard.michalowsky(at)
+49 3834 868530
Thomas Klockgether,
Marcus Grobe-Einsler (Co-PI)
Deutsches Zentrum für Neurodegenerative Erkrankungen e.V. (DZNE), Bonnthomas.klockgether(at)
+49 228 287-15736
+49 228 287-15024
Feng XieDepartment of Health Research Methods, Evidence, and Impact, McMaster University, Ontariofengxie(at)
+1 905 525 9140
Stéphanie BorelParis Brain Institute, Sorbonne Université, Faculty of Medicine, Pitié-Salpêtrière, Parisstephanie.borel(at)
+33 144279319

Study coordination / Project management

Ruth Hossinger
+49 228 43302 127

Funding acknowledgement

PROFA is a project in the framework of the European Joint Programme on Rare Diseases (EJP RD) project (see The project is supported through the following funding organisations under the aegis of EPJ RD: Germany, Federal Ministry of Education and Research (BMBF; funding code 01GM2110); France, French National Agency for Research (ANR; funding code ANR21-RAR4-0003-04); Canada, Canadian Institutes of Health Research – Institute of Genetics (CIHR-IG). This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575.

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