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

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.

Study Overview

• Status: Recruiting
• Conditions: Friedreich Ataxia

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.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Bernhard Michalowsky, PD Dr.; Phone Number: +49 3834 868530; Email: bernhard.michalowsky@dzne.de
• Study Contact Backup: Name: Maresa Buchholz, Dr.; Phone Number: +49 3834 868534; Email: maresa.buchholz@dzne.de

Study Locations

• Austria
  • Innsbruck, Austria, 6020
    • Recruiting
    • Klinik für Neurologie, Medizinische Universität Innsbruck
    • Contact: Sylvia Boesch, Prof. Dr.; Email: Sylvia.Boesch@i-med.ac.at
• France
  • Paris, France, 75013
    • Recruiting
    • Paris Brain Institute
    • Contact: Alexandra Durr, Prof. Dr.; Email: alexandra.durr@icm-institute.org
    • Contact: Rania Hilab; Email: rania.hilab@icm-institute.org
    • Principal Investigator: Stéphanie Borel, Dr.
• Germany
  • Aachen, Germany, 52074
    • Recruiting
    • Department of Neurology, RWTH Aachen University
    • Contact: Kathrin Reetz, Prof. Dr.; Email: kreetz@ukaachen.de
  • Bonn, Germany, 53127
    • Recruiting
    • German Center for Neuro-degenerative Diseases (DZNE)
    • Contact: Thomas Klockgether, Prof. Dr.; Email: klockgether@uni-bonn.de
    • Contact: Marcus Grobe-Einsler, Dr.; Email: marcus.grobe-einsler@dzne.de
    • Principal Investigator: Marcus Grobe-Einsler, Dr.
  • Münich, Germany, 80336
    • Recruiting
    • Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
    • Contact: Thomas Klopstock, Prof. Dr.; Email: Thomas.Klockgether@ukbonn.de
  • Tübingen, Germany, 72076
    • Not yet recruiting
    • Neurologische Klinik und Hertie-Institut für Klinische Hirnforschung, Universitätsklinik Tübingen
    • Contact: Ludger Schöls, Prof. Dr.; Email: Ludger.Schoels@uni-tuebingen.de

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Usability of the mobile-health app as a remote monitoring momentary data assessment tool	Completeness of data	Six months
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)	Month 6
Total societal costs	Aggregated healthcare costs of utilized healthcare services, informal care and productivity losses	Six months
Psychosocial health due to communication handicaps caused by speech and hearing disabilities	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)	Month 1
Psychosocial health due to communication handicaps caused by speech and hearing disabilities	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)	Month 2
Psychosocial health due to communication handicaps caused by speech and hearing disabilities	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)	Month 3
Psychosocial health due to communication handicaps caused by speech and hearing disabilities	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)	Month 4
Psychosocial health due to communication handicaps caused by speech and hearing disabilities	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)	Month 5
Psychosocial health due to communication handicaps caused by speech and hearing disabilities	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)	Month 6
Fluctuation of health-related quality of life	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)	Day one, two and three in months 1
Fluctuation of health-related quality of life	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)	Day one, two and three in months 3
Fluctuation of health-related quality of life	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)	Day one, two and three in months 5
Fluctuation of health-related quality of life	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)	Day one, two and three in months 6
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	Month 1
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	Month 3
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	Month 5
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	Month 6

Collaborators and Investigators

• Sponsor: German Center for Neurodegenerative Diseases (DZNE)
• Collaborators: McMaster University; Sorbonne University
• Investigators: Principal Investigator: Bernhard Michalowsky, PD Dr., German Center for Neurodegenerative Diseases (DZNE) Rostock/ Greifswald, Germany

Publications and helpful links

Helpful Links

• PROFAs project overview description from the German sponsor
• PROFAs project overview description from the EJPRD

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2023
• Primary Completion (Estimated): August 31, 2024
• Study Completion (Estimated): October 31, 2024

Study Registration Dates

• First Submitted: March 16, 2023
• First Submitted That Met QC Criteria: July 5, 2023
• First Posted (Actual): July 12, 2023

Study Record Updates

• Last Update Posted (Actual): February 20, 2024
• Last Update Submitted That Met QC Criteria: February 16, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Keywords: health-related quality of life; economic evaluation; psychosocial health; Friedreich's Ataxia; Ambulatory assessment; mobile-health app
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Neurodegenerative Diseases; Dyskinesias; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Mitochondrial Diseases; Cerebellar Diseases; Spinocerebellar Degenerations; Ataxia; Cerebellar Ataxia; Friedreich Ataxia
• Other Study ID Numbers: GR026

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No