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

NCT05943002 | Recruiting

• 1 other identifier: GR026
• Study Type: observational
• Target: 200
• Locations: 3 countries
• Sites: 6

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.

Conditions

Friedreich Ataxia

Keywords

health-related quality of life; economic evaluation; psychosocial health; mobile-health app; Friedreich's Ataxia; Ambulatory assessment

Outcome Measures

Primary Outcomes (17)

• 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

• 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

• 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

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• Lack of ability to give consent
• Ataxia severity \>30 according to the Scale of the Assessment and Rating of Ataxia (SARA)

Sponsors & Collaborators

• German Center for Neurodegenerative Diseases (DZNE): lead
• McMaster University: collaborator
• Sorbonne University: collaborator

Study Sites (6)

Klinik für Neurologie, Medizinische Universität Innsbruck

Innsbruck, 6020, Austria

RECRUITING

Paris Brain Institute

Paris, 75013, France

RECRUITING

Department of Neurology, RWTH Aachen University

Aachen, 52074, Germany

RECRUITING

German Center for Neuro-degenerative Diseases (DZNE)

Bonn, 53127, Germany

RECRUITING

Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

Münich, 80336, Germany

RECRUITING

Neurologische Klinik und Hertie-Institut für Klinische Hirnforschung, Universitätsklinik Tübingen

Tübingen, 72076, Germany

NOT YET RECRUITING

Related Publications (1)

• 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.

  PMID: 37527887 DERIVED

Related Links

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

MeSH Terms

Conditions

Friedreich Ataxia

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Bernhard Michalowsky, PD Dr.

  German Center for Neurodegenerative Diseases (DZNE) Rostock/ Greifswald, Germany

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Bernhard Michalowsky, PD Dr.

CONTACT

+49 3834 868530; bernhard.michalowsky@dzne.de

Maresa Buchholz, Dr.

CONTACT

+49 3834 868534; maresa.buchholz@dzne.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 16, 2023
• First Posted: July 12, 2023
• Study Start: June 1, 2023
• Primary Completion (Estimated): June 30, 2028
• Study Completion (Estimated): December 31, 2028
• Last Updated: April 1, 2026

Record last verified: 2026-03

Locations

AU (1); FR (1); DE (4)