RecruitingOBSERVATIONAL

UK SMA Patient Registry

This project is a registry for anyone in the UK and Ireland who has been diagnosed with Spinal Muscular Atrophy (SMA). SMA is a condition that affects the nerves and muscles. By joining, you'll help researchers understand SMA better by answering online questionnaires about your health, daily life, and how you're feeling. This information helps improve care for people with SMA and assists with understanding how new treatments are working. You provide consent online, and you can update your information every six months. This registry works with other groups to share information (with your permission) to help create a complete picture of SMA in the UK.

At a glance

Status

Recruiting

Sponsor

Newcastle University

Enrolment target

800

Start

13 Jul 2008

Estimated completion

31 May 2025

Spinal Muscular Atrophy SMA

What is this study about?

This registry is a special online collection of information for people living with Spinal Muscular Atrophy (SMA) in the UK and Ireland. SMA is a condition that affects the nerves that control muscle movement. It can impact both children and adults, and it's caused by a change in a specific gene inherited from parents. For every 6,000 to 10,000 babies born, about one might have SMA.

The main goal of this registry is to gather more details about SMA directly from those who have it. By filling out online questionnaires, you can help doctors and researchers learn more about how SMA affects people's daily lives and health. This understanding is really important because it helps improve care and develop new ways to manage the condition. Your information, combined with others, paints a clearer picture of SMA in the UK.

This registry works closely with other groups, like SMA REACH UK, which also collects health information from people with SMA. They can share certain information (only with your permission), which helps doctors understand your health even better and makes sure new treatments are working as they should. Eventually, you might even be able to look at some of your own health information through the registry.

Key takeaways

It's an online registry for people with SMA in the UK and Ireland.
You share health and daily life information through questionnaires.
Helps researchers understand SMA, improve care, and track new treatments.
Your information is kept secure and can be updated every six months.
Anyone with a confirmed (or pending) SMA diagnosis can join.

Who may be eligible?

Anyone in the UK or Ireland who has been diagnosed with Spinal Muscular Atrophy (SMA) or is awaiting a diagnosis can join this registry. You will need to confirm your diagnosis with a genetic test, which shows changes in your genes that cause SMA.

There are no specific reasons why someone with SMA would not be allowed to join this registry. This means if you have SMA, you are likely able to take part.

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.

Do you live in the UK or Ireland?
Do you have a diagnosis of Spinal Muscular Atrophy (SMA)?
Have you had a genetic test that confirms your SMA diagnosis?
Are you comfortable filling out online questionnaires about your health?

Answer every question to see your result.

What does participation involve?

If you decide to join, you'll register online through a secure website. First, you'll read detailed information about the project, and if you're happy to proceed, you'll agree to take part online. After that, you'll be asked to complete online questionnaires. These will ask about your SMA diagnosis, how it affects your movement, if you need help with feeding or breathing, any other health issues, medications you take, and if you've been in other trials. You'll also answer questions about your daily experiences and quality of life. You'll be asked to send a copy of your genetic test results to the registry. You can expect to update your information online every six months. There are no visits, medications, or ongoing assessments by study staff required for this registry.

Potential risks and benefits

By taking part, you'll be contributing valuable information that helps researchers and doctors understand SMA better, potentially leading to improved care and treatments for everyone with the condition. This is a secure online registry, but as with any online activity, there's always a very small risk to the privacy of your information, though extreme measures are taken to protect it. You are in control and can withdraw your consent and leave the registry at any time without needing to give a reason.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

John Walton Muscular Dystrophy Research Centre
Verified postcode
Newcastle upon Tyne, United Kingdom· Recruiting

Common questions

What is SMA?

SMA stands for Spinal Muscular Atrophy. It's a condition that affects the nerves in your spinal cord, which then impacts your muscles, making them weaker over time.

Who can join this registry?

Anyone in the UK or Ireland with a confirmed diagnosis of SMA can join. If you're waiting for your genetic test results, you can also join.

What do I need to do if I join?

You'll fill out online questionnaires about your health and daily life, and you'll be asked to update this information every six months. You'll also need to send your genetic test results.

Is my information kept private?

Yes, great care is taken to keep your information secure. Your details are used to help research, and when shared, they are often made anonymous so you can't be identified.

What's the benefit of joining?

By sharing your experiences, you help doctors and researchers learn more about SMA. This knowledge can lead to better care and a stronger understanding of how new treatments are working for people with SMA.

How to find out more

Patient Registry manager and curator

smaregistry@newcastle.ac.uk 0191 2418640 Official trial record

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