RecruitingOBSERVATIONAL

RFC1 Natural History Study

This international study is for people with a type of ataxia linked to a gene change called RFC1. The main goal is to understand how the condition changes and progresses over many years. Researchers will gather detailed information about people's symptoms, using different tests and scales. They also want to find 'biomarkers' – like special signs in blood, urine, or brain scans – that could help diagnose the condition earlier or show if a treatment is working. This information is vital for future research to develop effective medicines. Healthy volunteers are also needed for comparison. Taking part could help improve understanding and treatment for RFC1 ataxia.

At a glance

Status

Recruiting

Sponsor

Prof. Dr. Matthis Synofzik

Enrolment target

150

Start

14 Dec 2021

Estimated completion

01 Dec 2026

Ataxia

What is this study about?

This study is all about understanding a specific type of ataxia, a condition that affects balance, coordination, and movement. This particular kind is caused by a gene change known as RFC1. Because it's a relatively new discovery, doctors and scientists need to learn a lot more about it. This study aims to build a clearer picture of how RFC1 ataxia affects people differently and how it progresses over time.

Researchers will be looking closely at how the condition develops in people, from early symptoms to later stages. They'll use various tools, like careful examinations and special tests, to gather as much information as possible. A big part of the study is also to find 'biomarkers' – these are like clues in the body, such as substances in blood or changes seen on scans, that can help identify the disease or show how active it is. Finding reliable biomarkers is incredibly important because they can help doctors diagnose the condition earlier and measure if new treatments are actually working.

Ultimately, the knowledge gained from this study is crucial for the future. By understanding RFC1 ataxia better, scientists will be much better equipped to design and test new medicines. The goal is to find effective treatments that can slow down or even stop the progression of the condition, improving the lives of people living with RFC1 ataxia.

Key takeaways

A study to understand RFC1 ataxia better.
No new treatments are given in this study.
Involves yearly visits for check-ups and tests.
Optional blood and other samples may be requested.
Helps scientists develop future treatments.
Open to adults with RFC1 ataxia and healthy volunteers.

Who may be eligible?

To join this study, you must be 18 years or older.

If you have RFC1 ataxia, you need to have a confirmed genetic diagnosis showing the specific RFC1 gene change.

If you are a healthy volunteer, you should not have any history of neurological (brain or nerve) or psychiatric (mental health) conditions.

Everyone who takes part must be willing and able to understand and sign a consent form, and follow all the study's instructions.

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.

Are you 18 years old or older?
Do you have a genetically confirmed diagnosis of RFC1 ataxia? (Or are you a healthy adult with no brain/nerve conditions?)
Are you willing to attend annual study visits?
Are you able to understand and sign a consent form?

Answer every question to see your result.

What does participation involve?

If you decide to take part, you'll have check-ups once a year. These visits will involve a thorough medical examination and some tests using special rating scales to measure your ataxia. All the information gathered will be added to a secure database.

You'll also be asked if you'd be willing to give samples of things like blood, urine, or even a small skin sample. Giving these samples is completely optional, and you can choose which, if any, you're comfortable providing.

Depending on what's available at the clinic you attend, you might have additional tests such as brain scans, detailed looks at your movement and speech, balance tests, memory and thinking tests, or checks on your swallowing. These extra tests help researchers get a full picture of how RFC1 ataxia affects different parts of the body. There are no medications involved in this study, and the overall duration will depend on how long the study continues to follow participants annually.

Potential risks and benefits

Taking part in this study won't offer a direct cure, but it could help researchers better understand RFC1 ataxia, which is vital for developing future treatments. You might feel a sense of helping others with this condition. Potential risks are generally low and involve the inconvenience of annual visits and possible discomfort from blood tests or other optional procedures. All participants have the right to withdraw from the study at any time, for any reason, without it affecting their usual medical care.

Locations (10)

Department of Neuroscience, Central Clinical School, Monash University
Verified postcode
Melbourne, Australia· Recruiting
Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo
Verified postcode
São Paulo, Brazil· Recruiting
Service de Neurologie, Hôpitaux Universitaires de Strasbourg
Verified postcode
Strasbourg, France· Recruiting
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
Verified postcode
Tübingen, Germany· Recruiting
German Center for Neurodegenerative Diseases (DZNE)
Verified postcode
Bonn, Germany· Recruiting
Department of Neurology University Hospital Schleswig Holstein
Verified postcode
Lübeck, Germany· Recruiting
Università degli Studi di Napoli 'Federico II', c/o AOU Federico II
Verified postcode
Naples, Italy· Recruiting
IRCCS Fondazione Stella Maris
Verified postcode
Pisa, Italy· Recruiting
Centre of Brain Research Neurogenetics Research Clinic, University of Auckland
Verified postcode
Auckland, New Zealand· Recruiting
Koç University Hospital, KUTTAM-NDAL
Verified postcode
Istanbul, Turkey (Türkiye)· Recruiting

Common questions

What is RFC1 ataxia?

It's a type of ataxia, a condition affecting balance and coordination, that's caused by a specific change in the RFC1 gene. It usually starts in adulthood.

Why is this study important?

It helps researchers learn how RFC1 ataxia develops and find ways to diagnose and track it. This information is key for developing new treatments.

Do I have to give samples like blood or urine?

No, giving samples is completely optional. You can choose whether to provide them or not, and it won't affect your ability to be in the study.

Will I receive new treatment in this study?

No, this is an observational study. It aims to understand the condition better, not to test new treatments at this stage. There are no medications involved.

How long will I be in the study?

You will have annual (yearly) check-ups. The study aims to follow participants for an extended period to understand long-term changes.

How to find out more

Matthis Synofzik, Prof. Dr.

matthis.synofzik@uni-tuebingen.de +49 7071 29 Official trial record

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