Active not recruitingOBSERVATIONAL

FA Clinical Outcome Measures

This research study, called 'FA Clinical Outcome Measures', is focusing on Friedreich's Ataxia (FA), a condition affecting the nervous system. It aims to improve our understanding of FA and develop better ways to measure how the condition progresses. This will help doctors and researchers test new treatments more effectively in the future. The study also collects samples to investigate genetic factors and other markers related to FA. While this original study isn't taking new participants, a new and updated version of the study, called UNIFAI, is actively looking for volunteers right now. The goal is to build a strong network of clinics specialised in FA and speed up research into this condition.

At a glance

Status

Active not recruiting

Sponsor

Friedreich's Ataxia Research Alliance

Enrolment target

2,000

Start

01 Jan 2001

Estimated completion

01 Jan 2030

Friedreich Ataxia Neuro-Degenerative Disease

What is this study about?

This study is all about understanding Friedreich's Ataxia (FA) better. FA is a condition that affects the nervous system, leading to issues with movement and coordination, among other things. Researchers want to improve how they measure the changes that happen in people with FA over time. Having clear and reliable ways to measure these changes is really important, especially when testing if new treatments are working.

Think of it like this: if you're trying a new medicine for a cough, you need a way to tell if your cough is getting better or worse. For FA, it's more complex, so this study is developing the best ways to track things like balance, speech, and other symptoms. This will help future clinical trials for new FA treatments be much more effective and quicker to show results.

Beyond just measuring symptoms, this study also collects cheek swabs and blood samples. These samples help researchers look for genetic differences and other clues in the body that might affect how FA develops. By building a large collection of samples and information, scientists hope to unlock more secrets about FA and speed up the journey towards finding better treatments.

Key takeaways

This study helps understand Friedreich's Ataxia (FA) better.
It aims to improve how we measure changes in FA over time.
The findings will help test future FA treatments more effectively.
It also collects samples for genetic and other important research.
The original study is closed, but a new, similar study (UNIFAI) is open.
Participation involves yearly check-ups; no new medication is given.

Who may be eligible?

This study is looking for a wide range of people to take part. This includes males and females between 4 and 80 years old who have a confirmed diagnosis of Friedreich's Ataxia (FA), either from a genetic test or clear symptoms. If you have symptoms but are waiting for a genetic test, you can still join.

Family members who don't have FA but are carriers of the FA gene, or healthy volunteers (controls), can also provide samples for parts of the study even if they don't have FA themselves. For children, a parent or guardian would need to give permission, and the child would agree to take part if they are old enough to understand.

However, there are a few reasons why someone might not be able to join. If you have severe heart problems, such as serious heart failure, this study might not be suitable for you.

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 between 4 and 80 years old?
Do you have a genetically confirmed diagnosis of Friedreich's Ataxia (FA)?
Or do you have clear symptoms of FA and are awaiting genetic confirmation?
Do you not have severe heart problems like serious heart failure?
If you're a child, would your parent/guardian give permission, and would you agree to take part?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you would visit one of the study centers once a year. Each visit would involve some assessments to check things like your movement, balance, and speech. You'll also be asked about your quality of life. These check-ups help researchers understand how FA changes over time.

Optionally, during your visits, you might be asked to provide a cheek swab (a simple rub inside your cheek) or a blood sample. These samples help researchers look at genetic information and other markers. The study is designed to follow participants for up to 15 years, with annual assessments. This is a "natural history" study, meaning you won't be given any new medication as part of the study; instead, researchers are just observing how the condition naturally progresses and trying to improve how they measure it.

Potential risks and benefits

Taking part in research studies always has potential benefits and risks. A potential benefit of this study is that it contributes important information about Friedreich's Ataxia, which could help develop better treatments in the future. There are no direct medical benefits to you from participating, as no new treatments are being given. The main risks are minor discomfort from providing blood samples, if you choose to do so, and the time commitment for yearly visits. You are free to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (14)

UCLA Ataxia Center
Verified postcode
Los Angeles, United States
University of Colorado
Verified postcode
Denver, United States
University of Florida - Neurology
Verified postcode
Gainesville, United States
USF Ataxia Research Center
Verified postcode
Tampa, United States
Emory University Hospital - Neurology
Verified postcode
Atlanta, United States
University of Iowa, Stead Family Children's Hospital
Verified postcode
Iowa City, United States
Ohio State University - Neurology
Verified postcode
Columbus, United States
Children's Hospital of Philadelphia - Neurology
Verified postcode
Philadelphia, United States
St. Jude Children's Research Hospital
Verified postcode
Memphis, United States
Murdoch Childrens Research Institute
Verified postcode
Parkville, Australia
The Hospital for Sick Children
Verified postcode
Toronto, Canada
CHUM - Hopital Notre-Dame
Verified postcode
Montreal, Canada

Common questions

What is Friedreich's Ataxia?

Friedreich's Ataxia is a rare inherited condition that affects the nervous system, leading to problems with movement, coordination, and sometimes the heart.

Is this study giving me new medicine?

No, this is a 'natural history' study. It helps researchers understand how Friedreich's Ataxia progresses naturally and develop better ways to measure its effects, but you won't be given any new medication.

How long would I need to be in the study?

If you join, you would have yearly check-ups for up to 15 years, helping researchers track changes over a long period.

Can my family members who don't have FA participate?

Yes, family members who are carriers of the FA gene or healthy volunteers can provide optional cheek swabs or blood samples for parts of the study, even if they don't have FA.

I heard this particular study is closed. Is that true?

Yes, this version of the study (NCT03090789) is no longer recruiting. However, an updated and harmonised version called UNIFAI (NCT06016946) is actively looking for new participants.