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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05943002
Recruitment Status : Recruiting
First Posted : July 12, 2023
Last Update Posted : February 20, 2024
Sponsor:
Collaborators:
McMaster University
Sorbonne University
Information provided by (Responsible Party):
German Center for Neurodegenerative Diseases (DZNE)

Tracking Information
First Submitted Date March 16, 2023
First Posted Date July 12, 2023
Last Update Posted Date February 20, 2024
Actual Study Start Date June 1, 2023
Estimated Primary Completion Date August 31, 2024   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 16, 2024)
  • 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)
Original Primary Outcome Measures
 (submitted: July 5, 2023)
  • 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-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
  • 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
  • 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
  • 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
  • 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)
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia
Official Title Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia
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.
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
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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.
Condition Friedreich Ataxia
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 5, 2023)		 200
Original Estimated Enrollment Same as current
Estimated Study Completion Date October 31, 2024
Estimated Primary Completion Date August 31, 2024   (Final data collection date for primary outcome measure)
Eligibility 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)
Sex/Gender
Sexes Eligible for Study: All
Ages 12 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Bernhard Michalowsky, PD Dr. +49 3834 868530 bernhard.michalowsky@dzne.de
Contact: Maresa Buchholz, Dr. +49 3834 868534 maresa.buchholz@dzne.de
Listed Location Countries Austria,   France,   Germany
Removed Location Countries  
 
Administrative Information
NCT Number NCT05943002
Other Study ID Numbers GR026
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Current Responsible Party German Center for Neurodegenerative Diseases (DZNE)
Original Responsible Party Same as current
Current Study Sponsor German Center for Neurodegenerative Diseases (DZNE)
Original Study Sponsor Same as current
Collaborators
  • McMaster University
  • Sorbonne University
Investigators
Principal Investigator: Bernhard Michalowsky, PD Dr. German Center for Neurodegenerative Diseases (DZNE) Rostock/ Greifswald, Germany
PRS Account German Center for Neurodegenerative Diseases (DZNE)
Verification Date January 2024