The PROFA study is an international, multi-centric observational and validation study to assess the patient-reported, psychosocial and economic outcomes of patients with Friedreich Ataxia (FA). Eligible patients will be recruited from six study centers in Germany, Austria and France. Patients will complete a baseline assessment via face-to-face interviews at the study centers and multiple momentary follow-up assessments via a mobile-health app at home daily to monthly for six months. Study results will gain essential and in-depth insights into the daily life of patients with FA.
FA confirmed by molecular genetic testing
Ataxia severity of ≤30 points according to the Scale of the Assessment and Rating of Ataxia (SARA)
Access to a smartphone or tablet and able to operate the device
Older than 12 years
Lack of ability to give consent
Ataxia severity >30 according to the Scale of the Assessment and Rating of Ataxia (SARA)
Patients in this study have a Friedreich Ataxia (FA) disease confirmed by molecular genetic testing with disease severity of ≤30 points according to the Scale of the Assessment and Rating of Ataxia. FA is the most common hereditary ataxia in Europe. The genetic mutation that underlies almost all FA cases is a homozygous guanine-adenine-adenine triplet repeat expansion in the first intron of the FXN gene, which encodes the mitochondrial protein frataxin. Clinical onset of FA occurs most often around puberty, but in a few cases, symptoms develop in adulthood. FA is characterized by muscle weakness, imbalance, poor coordination, sensory loss, and speech problems. FA could cause wheelchair dependency and reduced life expectancy.
Cohort
Prospective
Not listed
Usability of the mobile-health app as a remote monitoring momentary data assessment tool
Completeness of data
Acceptability of the mobile-health app as a remote monitoring momentary data assessment tool
Acceptability is assessed by a self-developed questionnaire (asking patients to rate the app based on user experience)
Total societal costs
Aggregated healthcare costs of utilized healthcare services, informal care and productivity losses
Health-related quality of life
Health-related quality of life assessed by the "Patient Reported Outcome Measures for Ataxia" Short-Form (PROM-ATAX), with a score range between 0 to 40 with higher scores indicating lower health-related quality of life
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German Center for Neurodegenerative Diseases (DZNE)
Lead sponsor
McMaster University
Collaborator
Sorbonne University
Collaborator
