RecruitingOBSERVATIONAL

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

The PROFA study aims to understand how Friedreich Ataxia (FA) impacts the daily lives of people living with this condition. Researchers are looking at what patients themselves report about their health, feelings, and the financial side of living with FA. People in Germany, Austria, and France will take part. They will have initial interviews and then use a mobile app on their phone or tablet for six months to record information regularly. By gathering this detailed information directly from patients, the study hopes to gain important insights. This knowledge can then be used to improve support, treatment, and overall care for individuals and families affected by Friedreich Ataxia.

At a glance

Status

Recruiting

Sponsor

German Center for Neurodegenerative Diseases (DZNE)

Enrolment target

200

Start

01 Jun 2023

Estimated completion

31 Dec 2028

Friedreich Ataxia

What is this study about?

This study, called PROFA, is looking into how Friedreich Ataxia (FA) affects people's daily lives. Right now, we don't know enough about how FA impacts a person's health, their feelings and emotional well-being, and the financial and social costs involved. Previous studies were often small or only looked at information once a year, which didn't give a full picture. The PROFA study wants to change that by getting a much clearer and more detailed understanding.

The main goal is to listen to what patients themselves experience. This involves understanding how FA affects their quality of life, their mental health, and even how it impacts their ability to hear and speak comfortably. The study also wants to understand the real costs of FA, including care provided by family and friends, and how these costs might change based on treatment. It's also testing a new mobile app to see how well it works for collecting information directly from patients over time.

By gathering all this information, the study hopes to build a complete picture of what it's like to live with FA. This will help researchers and doctors find new ways to improve treatments, provide better care, and make the everyday lives of people with FA and their families better. It will also help ensure healthcare resources are used most effectively.

Key takeaways

The study aims to understand the daily impact of Friedreich Ataxia (FA) on patients.
It will collect information directly from patients using interviews and a mobile app.
The goal is to improve understanding of FA's effects on health, feelings, and costs.
This knowledge could lead to better treatments and support for FA patients and families.
Participation involves an initial visit and then six months of app-based data entry.
It's an observational study, meaning no new treatments are given.

Who may be eligible?

To be part of this study, you must have Friedreich Ataxia that has been confirmed by a genetic test. Your ataxia symptoms, as measured by a specific scale (called SARA), should not be too severe (a score of 30 or less). You also need to be aged 12 years or older and have access to a smartphone or tablet that you can use.

You cannot join the study if your ataxia symptoms are very severe (a SARA score above 30). Also, if you're unable to understand and agree to take part in the study yourself, then you wouldn't be able to participate.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Is my Friedreich Ataxia confirmed by a genetic test?
Is my ataxia severity, as measured by SARA, 30 points or less?
Am I aged 12 years or older?
Do I have a smartphone or tablet and can I use it easily?

Answer every question to see your result.

What does participation involve?

If you join the study, you'll first have an in-person meeting at one of the study centres in Germany, Austria, or France. During this meeting, you'll have an interview to gather initial information about your health and experiences. After this, for the next six months, you'll use a special mobile app on your smartphone or tablet. You'll be asked to record information using the app regularly, which could be daily or once a month, depending on the questions. This app will ask about your ataxia symptoms, how you're generally feeling, your emotional health, any difficulties with speech or hearing, and any healthcare you've used. This is an observational study, meaning you won't be given any new medication or treatment as part of the study; instead, researchers are just observing and collecting information about your current situation.

Potential risks and benefits

Participating in this study might help improve the understanding and future care for people with Friedreich Ataxia. There are no direct medical benefits to you, as no new treatments are given. The main potential risk involves the time commitment and the effort of regularly using the mobile app. All your information will be kept private. Remember, you can choose to stop participating in the study at any time, for any reason, without it affecting your medical care.

Locations (6)

Klinik für Neurologie, Medizinische Universität Innsbruck
Verified postcode
Innsbruck, Austria· Recruiting
Paris Brain Institute
Verified postcode
Paris, France· Recruiting
Department of Neurology, RWTH Aachen University
Verified postcode
Aachen, Germany· Recruiting
German Center for Neuro-degenerative Diseases (DZNE)
Verified postcode
Bonn, Germany· Recruiting
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
City only
Münich, Germany· Recruiting
Neurologische Klinik und Hertie-Institut für Klinische Hirnforschung, Universitätsklinik Tübingen
Verified postcode
Tübingen, Germany· Not yet recruiting

Common questions

What is Friedreich Ataxia?

Friedreich Ataxia is a rare genetic condition that affects the nervous system, causing problems with coordination, balance, and other body functions.

What does 'observational study' mean?

An observational study means doctors are watching and recording information about you and your condition as you live your life naturally; they aren't giving you any new treatments or medicines as part of the study.

What kind of information will I be asked for?

You'll be asked about your symptoms, how you're feeling emotionally, any difficulties with speech or hearing, and any healthcare you've used, all through an app after an initial interview.

How long will I need to be in the study?

After an initial visit, you'll use a mobile app to record information regularly for about six months.

Will my information be kept private?

Yes, all personal information collected as part of the study will be kept confidential and private.

How to find out more

Bernhard Michalowsky, PD Dr.

bernhard.michalowsky@dzne.de +49 3834 868530 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.