Clinical trial NCT05943002: Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia
Official title: Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Friedreich Ataxia
Keywords: health-related quality of life
economic evaluation
psychosocial health
mobile-health app
Friedreich's Ataxia
Ambulatory assessment
Lead sponsor: German Center for Neurodegenerative Diseases (DZNE)
Sponsor class: OTHER
Collaborators: name: McMaster University
name: Sorbonne University
First posted: 2023-07-12
Enrollment: 200
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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)

Primary outcomes:
measure: Usability of the mobile-health app as a remote monitoring momentary data assessment tool
timeFrame: Six months
measure: Acceptability of the mobile-health app as a remote monitoring momentary data assessment tool
timeFrame: Month 6
measure: Total societal costs
timeFrame: Six months
measure: Health-related quality of life
timeFrame: Month 1
measure: Health-related quality of life
timeFrame: Month 3
measure: Health-related quality of life
timeFrame: Month 5
measure: Health-related quality of life
timeFrame: Month 6
measure: Psychosocial health due to communication handicaps caused by speech and hearing disabilities
timeFrame: Month 1
measure: Psychosocial health due to communication handicaps caused by speech and hearing disabilities
timeFrame: Month 2
measure: Psychosocial health due to communication handicaps caused by speech and hearing disabilities
timeFrame: Month 3
measure: Psychosocial health due to communication handicaps caused by speech and hearing disabilities
timeFrame: Month 4
measure: Psychosocial health due to communication handicaps caused by speech and hearing disabilities
timeFrame: Month 5
measure: Psychosocial health due to communication handicaps caused by speech and hearing disabilities
timeFrame: Month 6
measure: Fluctuation of health-related quality of life
timeFrame: Day one, two and three in months 1
measure: Fluctuation of health-related quality of life
timeFrame: Day one, two and three in months 3
measure: Fluctuation of health-related quality of life
timeFrame: Day one, two and three in months 5
measure: Fluctuation of health-related quality of life
timeFrame: Day one, two and three in months 6
Secondary outcomes:
Other outcomes:
Locations:
city: Innsbruck
country: Austria
facility: Klinik für Neurologie, Medizinische Universität Innsbruck
city: Paris
country: France
facility: Paris Brain Institute
city: Aachen
country: Germany
facility: Department of Neurology, RWTH Aachen University
city: Bonn
country: Germany
facility: German Center for Neuro-degenerative Diseases (DZNE)
city: Münich
country: Germany
facility: Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
city: Tübingen
country: Germany
facility: Neurologische Klinik und Hertie-Institut für Klinische Hirnforschung, Universitätsklinik Tübingen
Study officials:
affiliation: German Center for Neurodegenerative Diseases (DZNE) Rostock/ Greifswald, Germany
name: Bernhard Michalowsky, PD Dr.
role: PRINCIPAL_INVESTIGATOR
References: