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

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ClinicalTrials.gov Identifier: NCT05943002
Recruitment Status : Recruiting
First Posted : July 12, 2023
Last Update Posted : September 7, 2023
Sponsor:
Collaborators:
McMaster University
Sorbonne University
Information provided by (Responsible Party):
German Center for Neurodegenerative Diseases (DZNE)

Study Description
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Brief 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. 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.

Condition or disease
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 Design
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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia
Actual Study Start Date : June 1, 2023
Estimated Primary Completion Date : August 31, 2024
Estimated Study Completion Date : October 31, 2024

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  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-realted 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-realted 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-realted 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-realted 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)


Eligibility Criteria
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Ages Eligible for Study:   12 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
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.
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)
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05943002


Contacts
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Contact: Bernhard Michalowsky, PD Dr. +49 3834 868530 bernhard.michalowsky@dzne.de
Contact: Maresa Buchholz, Dr. +49 3834 868534 maresa.buchholz@dzne.de

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

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Responsible Party: German Center for Neurodegenerative Diseases (DZNE)
ClinicalTrials.gov Identifier: NCT05943002    
Other Study ID Numbers: GR026
First Posted: July 12, 2023    Key Record Dates
Last Update Posted: September 7, 2023
Last Verified: December 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by German Center for Neurodegenerative Diseases (DZNE):
health-related quality of life
economic evaluation
psychosocial health
 mobile-health app
Friedreich's Ataxia
Ambulatory assessment
Additional relevant MeSH terms:
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Ataxia
Cerebellar Ataxia
Friedreich Ataxia
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Cerebellar Diseases
Brain Diseases
 Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases