RecruitingNAINTERVENTIONAL

Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia

This study is looking at a new computer tool called RADIAL that helps doctors diagnose a group of rare genetic conditions called autosomal recessive cerebellar ataxia (ARCA). These conditions affect movement and balance. RADIAL uses information about a patient's symptoms and test results to suggest the most likely genetic cause. It's been shown to be quite accurate in the past. Now, doctors want to test RADIAL on new patients to see if it can reliably predict the correct genetic diagnosis in real-world situations. This could help people with ARCA get a diagnosis more quickly and easily, which is important for understanding their condition and future care.

At a glance

Status

Recruiting

Phase

Sponsor

University Hospital, Strasbourg, France

Enrolment target

400

Start

20 Sep 2021

Estimated completion

01 Sep 2029

Autosomal Recessive Cerebellar Ataxia

What is this study about?

Imagine you have a health problem that makes it hard to move steadily and keep your balance. Doctors might suspect a genetic condition called autosomal recessive cerebellar ataxia (ARCA). However, there are many different types of ARCA, and finding the exact one can be a long and difficult process, often taking many tests.

This study is about a new tool called RADIAL. Think of it like a smart computer program designed to help doctors narrow down the possibilities. RADIAL looks at all the patient's symptoms and test results and then suggests which specific type of ARCA is most likely. It's built on a lot of existing medical knowledge and has shown promising results in earlier testing—it was able to correctly identify the condition in most cases.

The main goal of this particular study is to confirm that RADIAL works well in new patients. If RADIAL proves to be consistently accurate, it could significantly speed up the diagnostic journey for people with ARCA. A faster and more accurate diagnosis means patients can better understand their condition and explore the best ways to manage it.

Key takeaways

This study tests a new computer tool (RADIAL) for diagnosing genetic balance conditions.
RADIAL aims to help doctors find the specific genetic cause of ARCA faster.
You might be eligible if you have ARCA and doctors haven't found the exact genetic cause yet.
The study primarily uses existing medical information and DNA samples.
Participation could improve diagnosis for future patients with ARCA.

Who may be eligible?

You might be able to join this study if you are at least 5 years old and have a problem with movement and balance that started before you were 40. Your family history should suggest that this condition could be passed down in a particular genetic way (for example, if other siblings have it, or your parents are related). It's important that doctors have already ruled out other common causes for your symptoms, and you don't yet have a confirmed genetic diagnosis for your condition (though if you tested negative for Friedreich's disease, you could still be eligible).

If you are 18 or older, you need to be able to speak and read French and be willing to sign a consent form. If your DNA has already been stored for research and you gave permission for it to be used for studies like this, and we can get all your medical details for RADIAL, you could also be included. If you are under 18, a parent or legal guardian must speak French and give their signed permission for you to take part. The same applies for children whose DNA is already stored.

Finally, all patients must be part of the French national health insurance system. Close relatives (like parents) of patients in the study might also be asked to take part, especially if their child is included. They need to be over 18, speak and read French, and be available for a visit if needed.

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 at least 5 years old?
Did your balance or movement problems start before age 40?
Have doctors ruled out other common causes for your symptoms?
Do you have an ARCA diagnosis, but the specific genetic cause is still unknown?
If you are 18 or older (or your child's parent/guardian), can you speak and read French and sign a consent form?
Are you (or your child) covered by French national health insurance?

Answer every question to see your result.

What does participation involve?

This study aims to use your existing medical information and DNA samples to validate the RADIAL tool. If you are eligible, it's likely that doctors will use information already collected from your medical records and any stored DNA samples you have previously agreed to for research. The study will mainly involve doctors entering your health details into the RADIAL algorithm to see if it can accurately predict your genetic diagnosis. There might be a visit if you are a parent participating with your child, but generally, for patients, new visits specifically for this study might not be needed if your medical information and samples are already available. The overall duration for your involvement will depend on when your information is processed.

Potential risks and benefits

Taking part in this study may not directly benefit you, but it could help future patients with ARCA get a diagnosis faster. Your participation is low risk, as it mainly involves using existing medical data and samples. Your personal information will be kept confidential. You are free to withdraw from the study at any time without giving a reason, and this will not affect your medical care.

Locations (8)

CHU de Besancon- Neurology
Verified postcode
Besançon, France· Recruiting
CHU de Dijon- Neurology
Verified postcode
Dijon, France· Recruiting
CHU Lille- Neurology
Verified postcode
Lille, France· Not yet recruiting
CHU Marseille- Neurology
Verified postcode
Marseille, France· Recruiting
CHU Montpellier - Neurology
Verified postcode
Montpellier, France· Recruiting
CHU Nancy- Neurology
Verified postcode
Nancy, France· Recruiting
CHRU de Strasbourg - Neurology/Pediatrics
Verified postcode
Strasbourg, France· Recruiting
CHU Toulouse- Neurology
Verified postcode
Toulouse, France· Recruiting

Common questions

What is ARCA?

ARCA stands for Autosomal Recessive Cerebellar Ataxia. It's a group of genetic conditions that affect balance and coordination because of problems in a part of the brain called the cerebellum.

What is the RADIAL tool?

RADIAL is a computer program that helps doctors work out which specific type of ARCA a person might have by looking at their symptoms and test results.

Will taking part help me personally?

While this study might not directly change your treatment, it could help doctors diagnose others with ARCA more quickly and accurately in the future.

Do I need to visit a hospital for this study?

For patients, new hospital visits might not be needed if your existing medical information and samples are already available. Parents joining the study might need a visit.

What if I change my mind about participating?

You can leave the study at any time without explaining why, and your decision will not affect your medical care.

How to find out more

Tranchant Christine, MD

christine.tranchant@chru-strasbourg.fr +33 3 88 12 85 31 Official trial record

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