Rare motor disorder: International study investigates living situation of people with Friedreich’s Ataxia

Greifswald/Bonn (Germany), July 11 2022. The DZNE is leading an international research consortium that will use an app to evaluate the impact of Friedreich's Ataxia on the everyday life of patients and their families. Next to the quality of life and psychosocial health, the project will also focus on the utilization of healthcare services and their costs. The study results are intended to help improve the treatment, care and support situation of those affected. The project will run for three years and is funded within the „European Joint Programme on Rare Diseases“. The DZNE receives about 300,000 euros, which are provided by the German Federal Ministry of Education and Research (BMBF).

"Friedreich's Ataxia" is a rare, as yet incurable disease of the brain and spinal cord. It can manifest as gait instability, frequent falls, poor coordination and speech disabilities. The symptoms often already occur in childhood or adolescence, impacting the quality of life and social participation and leading to the need for care.

"The situation is enormously burdensome for patients and their families: medical treatment, occupational, speech and physical therapy, and assistive devices such as wheelchairs are required to provide care. In addition, relatives are heavily occupied with caregiving. About one-third of adult patients cannot work due to the disease," said Dr. Bernhard Michalowsky, health economist and health care researcher at the DZNE Greifswald. He is coordinating the study "Patient-reported, health economic and psychosocial outcomes in Friedreich's Ataxia" (PROFA), which has now started under the leadership of the DZNE.

Aim of the project: Improving the care situation

The study aims to investigate and evaluate the health-related, psychosocial and economic impacts of the disease. The results of the interdisciplinary project, which combines clinical expertise with expertise in health economics, health care research and psychosocial research, are intended to provide a basis for improving treatment, care and support.

In this project, the DZNE works closely with international partners from France (Paris Brain Institute) and Canada (McMaster University) as well as with the healthtech company Aparito and various European university hospitals. "PROFA" is being carried out in six study centers in Europe. It is planned that more than 200 patients aged 12 years and older will participate in the study.

App-based, repeated data collection

"Ataxia symptoms can highly fluctuate from day to day. We still know far too little about the everyday life of patients and their families because patient outcomes are usually assessed at longer time intervals in study centers," said Prof. Dr. Thomas Klockgether, a specialist in ataxias and Director of Clinical Research at the DZNE. The neurologist is also involved in the study. Usually, the medical examination and interviews are carried out only annually in the study centers.

Now, to assess everyday life with the rare disease, the researchers use a special app developed by Aparito. Patients will use the app at home to self-report their health status.

This app also includes audiovisual tasks and tests to measure motor skills and speech. "We also use various health- and care-related questionnaires within the app: affected persons can also regularly provide information on the frequency of health services visits, mental, physical, and psychosocial health, loss of productivity, communication disabilities, use of informal care provided by family members and social participation," explained Bernhard Michalowsky. Likewise, the app allows users to report specific health events, like falls or hospitalizations. The utilization of evidence-based treatment and care, such as physiotherapy, as well as promoting or hindering utilization factors, will also be assessed. The questionnaires and audiovisual tests will be administered daily to monthly for six months. The data will provide better insights into patients' everyday life.

Focus on quality of life, psychosocial health and economic consequences

Friedreich's ataxia leads to decreased quality of life and social participation and increased need for care. The latter also has an economic impact. "Those affected are often relatively young. The progression of the ataxia disease is associated with high medical and formal care costs. Patients also reduce their working hours or even stop working. This causes considerable costs for the entire society," says Michalowsky. The project will, therefore, determine the total social costs of Friedreich's ataxia and whether or not recommended therapies have a relieving effect on these costs.

About the Deutsches Zentrum für Neurodegenerative Erkrankungen, DZNE (German Center for Neurodegenerative Diseases): The DZNE is a research institute funded by the German federal and state governments, comprising ten sites across Germany. It is dedicated to diseases of the brain and nervous system, such as Alzheimer’s, Parkinson’s, and ALS, which are associated with dementia, movement disorders and other serious health impairments. To date, there are no cures for these diseases, which represent an enormous burden for countless affected individuals, their families, and the healthcare system. The aim of DZNE is to develop novel strategies for prevention, diagnosis, care, as well as treatment, and to transfer them into practice. To this end, the institute cooperates with universities, university hospitals, research centers and other institutions in Germany and abroad. It is a member of the Helmholtz Association and belongs to the German Centers for Health Research.

Media relations

Dr. Christine Knust
Internal / Press
+49 228 43302-264

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