Friedreich Ataxia
Conditions
Keywords
health-related quality of life, economic evaluation, psychosocial health, mobile-health app, Friedreich's Ataxia, Ambulatory assessment
Brief summary
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.
Detailed description
There is a lack of knowledge about the patient-reported, psychosocial, and economic impact of Friedreich's Ataxia (FA). The few previous studies were based on small sample sizes and annual cross-sectional data, limiting the generalizability of the results. Therefore, the PROFA study aims 1. to assess the acceptability, feasibility, and usability of a mobile-health app for the collection of longitudinal real-time data, 2. to determine healthcare costs from a societal perspective that includes informal care productivity losses, to assess associated factors and to analyze the impact of evidence-based treatment on costs, 3. to validate measures of health-related quality of life (HRQoL), to assess patients' HRQoL and its fluctuation over time and identify associated factors, 4. to develop, validate and evaluate a new measure of hearing and speech disabilities' impact on patients' psychosocial health, and 5. to evaluate interaction effects between HRQoL, psychosocial health and economic outcomes in patients with FA. Thus, the PROFA study will gain a comprehensive understanding of the individual, societal, and economic burden of FA, identifying determinants of health and social life and efficient use of healthcare resources. This is crucial to improve the treatment, care, and everyday life of FA patients and their families. This validation and observational study will recruit patients from six study centers (Germany, France, and Austria). The data assessment will be based on (i) a baseline assessment via interviews at the study centers and (ii) a subsequent remote momentary data assessment via a mobile-health app on a daily to monthly basis for six months, covering assessments of ataxia severity, HRQoL, psychosocial health, speech and hearing disabilities, health services utilization, and specific health events. Descriptive and multivariate statistics will be used to describe the impact of FA on the patient-reported HRQoL, psychosocial health and economic outcomes.
Interventions
None listed
Sponsors
German Center for Neurodegenerative Diseases (DZNE)
McMaster University
Sorbonne University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
12 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* 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
Exclusion criteria
* Lack of ability to give consent * Ataxia severity \>30 according to the Scale of the Assessment and Rating of Ataxia (SARA)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Usability of the mobile-health app as a remote monitoring momentary data assessment tool | Six months | Completeness of data |
| Acceptability of the mobile-health app as a remote monitoring momentary data assessment tool | Month 6 | Acceptability is assessed by a self-developed questionnaire (asking patients to rate the app based on user experience) |
| Total societal costs | Six months | Aggregated healthcare costs of utilized healthcare services, informal care and productivity losses |
| Health-related quality of life | Month 1 | 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 |
| Psychosocial health due to communication handicaps caused by speech and hearing disabilities | Month 1 | Psychosocial impact of hearing and speech disabilities assessed by the "Scale for the psychosocial impact of hearing and speech disabilities in Friedreich Ataxia" (COM-ATAX) with a score range between 0 to 68 (higher scores indicate more difficulties) |
| Fluctuation of health-related quality of life | Day one, two and three in months 1 | Change in health-related quality of life measured by the 5-level EQ-5D version (EQ-5D-5L) with a score range between 0 and 1 (higher values indicate higher health-related quality of life) |
Countries
Austria, France, Germany
Contacts
CONTACTBernhard Michalowsky, PD Dr.
CONTACTMaresa Buchholz, Dr.
PRINCIPAL_INVESTIGATORBernhard Michalowsky, PD Dr.
German Center for Neurodegenerative Diseases (DZNE) Rostock/ Greifswald, Germany
Outcome results
None listed