Friedreich AtaxiaPROFANCT05943002
Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia
An observational study of Friedreich Ataxia, run by German Center for Neurodegenerative Diseases (DZNE) at 6 sites in 3 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Friedreich Ataxia
- How many people
- 200 participants
- Where
- 6 sitesin 3 countries
- Study dates
- 1 Jun 2023to 31 Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Lack of ability to give consent
- Ataxia severity >30 according to the Scale of the Assessment and Rating of Ataxia (SARA)
Trial locations and contacts
6 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
6 sites in 3 countries
Germany4 sites, 4 recruiting
- Recruiting
Department of Neurology, RWTH Aachen University
Aachen, 52074
Kathrin Reetz, Prof. Dr., kreetz@ukaachen.de
- Recruiting
German Center for Neuro-degenerative Diseases (DZNE)
Bonn, 53127
Thomas Klockgether, Prof. Dr., klockgether@uni-bonn.de
Marcus Grobe-Einsler, Dr., marcus.grobe-einsler@dzne.de
- Recruiting
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
Münich, 80336
Thomas Klopstock, Prof. Dr., Thomas.Klockgether@ukbonn.de
- Not yet recruiting
Neurologische Klinik und Hertie-Institut für Klinische Hirnforschung, Universitätsklinik Tübingen
Tübingen, 72076
Ludger Schöls, Prof. Dr., Ludger.Schoels@uni-tuebingen.de
Austria1 site, 1 recruiting
- Recruiting
Klinik für Neurologie, Medizinische Universität Innsbruck
Innsbruck, 6020
Sylvia Boesch, Prof. Dr., Sylvia.Boesch@i-med.ac.at
France1 site, 1 recruiting
- Recruiting
Paris Brain Institute
Paris, 75013
Alexandra Durr, Prof. Dr., alexandra.durr@icm-institute.org
Rania Hilab, rania.hilab@icm-institute.org
About this study
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.
Read the 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
- 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.
- Conditions
- Friedreich Ataxia
- Keywords
- health-related quality of life, economic evaluation, psychosocial health, mobile-health app, Friedreich's Ataxia, Ambulatory assessment
- Medical subject headings
- Friedreich Ataxia
What is being measured
The primary outcome is the main question the study is designed to answer.
Usability of the mobile-health app as a remote monitoring momentary data assessment tool
Completeness of data
Measured: 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)
Measured: Month 6
Total societal costs
Aggregated healthcare costs of utilized healthcare services, informal care and productivity losses
Measured: Six months
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
Measured: 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
Measured: 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
Measured: 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
Measured: Month 6
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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: Day one, two and three in months 6
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jul 2023
- Study start1 Jun 2023
- Primary completion30 Jun 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Friedreich AtaxiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- German Center for Neurodegenerative Diseases (DZNE)
- Sponsor type
- University, hospital or other
- Collaborators
- McMaster University, Sorbonne University
- Responsible party
- Sponsor
- Investigators
- Bernhard Michalowsky, PD Dr., Principal investigator, German Center for Neurodegenerative Diseases (DZNE) Rostock/ Greifswald, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05943002
- Sponsor's protocol ID
- GR026
- Acronym
- PROFA
- Status last verified
- Mar 2026
- First submitted
- 16 Mar 2023
- Last updated
- 1 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
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 1;13(8):e075736. doi: 10.1136/bmjopen-2023-075736.
PubMed 37527887
Study at a glance
From the registry record, last updated by the sponsor on 1 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia
- ClinicalTrials.gov ID
- NCT05943002
- Acronym / sponsor ID
- PROFA / GR026
- Conditions
- Friedreich Ataxia
- Keywords
- health-related quality of life, economic evaluation, psychosocial health, mobile-health app, Friedreich's Ataxia, Ambulatory assessment
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- German Center for Neurodegenerative Diseases (DZNE)University, hospital or other
- Collaborators
- McMaster University, Sorbonne University
- Study start
- 1 Jun 2023 (actual)
- Primary completion
- 30 Jun 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 12 Jul 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- 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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- Lack of ability to give consent
- Ataxia severity >30 according to the Scale of the Assessment and Rating of Ataxia (SARA)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Usability of the mobile-health app as a remote monitoring momentary data assessment tool
Time frame: Six months
Completeness of data
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)
Total societal costs
Time frame: Six months
Aggregated healthcare costs of utilized healthcare services, informal care and productivity losses
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
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
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
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
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Apr 2026.
- Derived from this study: PubMed 37527887Buchholz 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 1;13(8):e075736. doi: 10.1136/bmjopen-2023-075736.
- PROFAs project overview description from the German sponsorLink provided by the sponsor.
- PROFAs project overview description from the EJPRDLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Bernhard Michalowsky, PD Dr. principal investigator
German Center for Neurodegenerative Diseases (DZNE) Rostock/ Greifswald, Germany
6 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Friedreich Ataxia, run by German Center for Neurodegenerative Diseases (DZNE) at 6 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in Germany, Austria, France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Bernhard Michalowsky, PD Dr. (+49 3834 868530, bernhard.michalowsky@dzne.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Usability of the mobile-health app as a remote monitoring momentary data assessment tool (time frame: Six months). The study lists 17 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05943002, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Apr 2026.