Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Friedreich Ataxia. Basic parameters: from 12 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Austria, France, Germany
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Usability of the mobile-health app as a remote monitoring momentary data assessment tool [Time frame: Six months]
- Acceptability of the mobile-health app as a remote monitoring momentary data assessment tool [Time frame: Month 6]
- Total societal costs [Time frame: Six months]
- Health-related quality of life [Time frame: Month 1]
- Health-related quality of life [Time frame: Month 3]
- Health-related quality of life [Time frame: Month 5]
- Health-related quality of life [Time frame: Month 6]
- Psychosocial health due to communication handicaps caused by speech and hearing disabilities [Time frame: Month 1]
- Psychosocial health due to communication handicaps caused by speech and hearing disabilities [Time frame: Month 2]
- Psychosocial health due to communication handicaps caused by speech and hearing disabilities [Time frame: Month 3]
Eligibility criteria
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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Germany · 4 centers
- Department of Neurology, RWTH Aachen University — Aachen
- German Center for Neuro-degenerative Diseases (DZNE) — Bonn
- Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik — Münich
- Neurologische Klinik und Hertie-Institut für Klinische Hirnforschung, Universitätsklinik T — Tübingen
Austria · 1 center
- Klinik für Neurologie, Medizinische Universität Innsbruck — Innsbruck
France · 1 center
- Paris Brain Institute — Paris
Publications
- Buchholz M, Weber N, Borel S, Sayah S, Xie F, Schulz JB, Reetz K, Boesch S, Klopstock T, Karin I, Schols L, Grobe-Einsler M, Klockgether T, Davies EH, Schmeder M, Nadke A, Michalowsky B. Patient-reported, health economic and psychosocial outcomes in patients with Friedreich ataxia (PROFA): protocol of an observational study using momentary data assessments via mobile health app. BMJ Open. 2023 Aug PMID 37527887
Identifiers
NCT: NCT05943002 · GR026