Skip to main content
OpenTrials
Recruiting

NCT Number: NCT05943002

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

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Friedreich Ataxia Brain Diseases Central Nervous System Diseases Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Metabolic Diseases Mitochondrial Diseases Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases Spinal Cord Diseases Spinocerebellar Degenerations

Age range

12 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Klinik für Neurologie, Medizinische Universität Innsbruck, Innsbruck, Austria

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Primary outcomes

  1. Usability of the mobile-health app as a remote monitoring momentary data assessment tool

    Time frame: Six months

    Completeness of data

  2. Acceptability of the mobile-health app as a remote monitoring momentary data assessment tool

    Time frame: Month 6

    Acceptability is assessed by a self-developed questionnaire (asking patients to rate the app based on user experience)

  3. Total societal costs

    Time frame: Six months

    Aggregated healthcare costs of utilized healthcare services, informal care and productivity losses

  4. Health-related quality of life

    Time frame: 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

  5. Health-related quality of life

    Time frame: Month 3

    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

  6. Health-related quality of life

    Time frame: Month 5

    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

  7. Health-related quality of life

    Time frame: Month 6

    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

  8. Psychosocial health due to communication handicaps caused by speech and hearing disabilities

    Time frame: 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)

  9. Psychosocial health due to communication handicaps caused by speech and hearing disabilities

    Time frame: Month 2

    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)

  10. Psychosocial health due to communication handicaps caused by speech and hearing disabilities

    Time frame: Month 3

    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)

  11. Psychosocial health due to communication handicaps caused by speech and hearing disabilities

    Time frame: Month 4

    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)

  12. Psychosocial health due to communication handicaps caused by speech and hearing disabilities

    Time frame: Month 5

    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)

  13. Psychosocial health due to communication handicaps caused by speech and hearing disabilities

    Time frame: Month 6

    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)

  14. Fluctuation of health-related quality of life

    Time frame: 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)

  15. Fluctuation of health-related quality of life

    Time frame: Day one, two and three in months 3

    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)

  16. Fluctuation of health-related quality of life

    Time frame: Day one, two and three in months 5

    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)

  17. Fluctuation of health-related quality of life

    Time frame: Day one, two and three in months 6

    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)

Study contacts

Contact information is provided by the study sponsor or research team.

Bernhard Michalowsky, PD Dr.

CONTACT

[email protected]

+49 3834 868530

Maresa Buchholz, Dr.

CONTACT

[email protected]

+49 3834 868534

Sponsors and collaborators

Lead sponsor

German Center for Neurodegenerative Diseases (DZNE)

Other

Collaborators

  • McMaster University
  • Sorbonne University

Registry information

Acronym: PROFA

Important dates

Study start
2023
Primary completion
2028
Study completion
2028
First posted
Jul 12, 2023
Registry last updated
Apr 1, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.