ClinicalTrials.gov record NCT05943002

Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 7, 2026

Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age12 years old and older
SexAll
LocationAustria, France, Germany
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a prospective observational study collecting patient-reported, psychosocial and economic data from people with genetically confirmed Friedreich Ataxia. Participants complete a baseline face-to-face interview at a study center then use a mobile-health app for repeated momentary assessments from daily to monthly over six months. The study will test the app's usability and acceptability, measure societal healthcare costs, and validate quality-of-life and communication-impact measures.

What it is studying. The study is testing whether a mobile-health app can be used to collect reliable, repeated patient-reported data in Friedreich Ataxia and aims to measure the psychosocial and economic burden of the disease. It seeks to validate patient-reported quality-of-life measures (PROM-ATAX), develop and validate a measure of the psychosocial impact of speech and hearing disabilities (COM-ATAX), estimate total societal costs including informal care and productivity losses, and examine how quality of life, psychosocial health and economic outcomes interact over time.

What the researchers hope to learn. To assess the feasibility and usability of a mobile app for longitudinal data collection in Friedreich Ataxia; to estimate healthcare and societal costs (including informal care and productivity losses); to validate and evaluate patient-reported quality-of-life measures and a new measure for speech/hearing psychosocial impact; and to describe interactions between quality of life, psychosocial health and economic outcomes.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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)

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

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

  • to assess the acceptability, feasibility, and usability of a mobile-health app for the collection of longitudinal real-time data,
  • 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,
  • to validate measures of health-related quality of life (HRQoL), to assess patients' HRQoL and its fluctuation over time and identify associated factors,
  • to develop, validate and evaluate a new measure of hearing and speech disabilities' impact on patients' psychosocial health, and
  • 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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

You will complete one baseline face-to-face interview at the study site, then use a mobile-health app at home to complete short assessments over six months. App entries occur with a frequency ranging from daily to monthly and collect information on ataxia severity, health-related quality of life, psychosocial health, speech and hearing difficulties, health service use, and specific health events. The study focuses on interviews and repeated app-based questionnaires and remote momentary data collection as described in the registry.

How the study is structured. Prospective observational cohort. After a baseline interview at a study center, participants complete repeated momentary assessments using a mobile-health app on a daily-to-monthly schedule for six months. No treatments are assigned; the study collects questionnaires and app-based reports about symptoms, quality of life, communication difficulties and healthcare use.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Austria, France, Germany. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Friedreich ataxia

Clinical trials26 trials listed for Friedreich ataxiaEvery trial the registry lists for Friedreich ataxia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Friedreich ataxia researchLatest monthly update: September 2026. Includes: Heart change stages. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jun 1, 2023
Primary completion
Jun 30, 2028 (estimated)
Study completion
Dec 31, 2028 (estimated)
Target enrollment
200 participants (estimated)
Last updated on registry
Apr 1, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
German Center for Neurodegenerative Diseases (DZNE)
Collaborators
  • McMaster University
  • Sorbonne University

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (6)

Terms used on this page · explanations by MedicalUpdates.ai

baseline
Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.
follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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