RecruitingOBSERVATIONAL

Exploring Bulbar Function, Speech And Communication Development in SMA Type 1

This study is exploring how speech, communication, and swallowing (often called 'bulbar function') develop in children aged 0-18 years who have Spinal Muscular Atrophy type 1 (SMA1). SMA1 is a rare condition that affects muscle strength. New treatments mean that children with SMA1 are living longer, and we're seeing new patterns in their development. This research aims to understand these changes, especially how well children can speak, communicate, and eat/drink. By gathering this information, doctors can learn how to provide better, more personalised support, like speech and language therapy, for children with SMA1.

At a glance

Status

Recruiting

Sponsor

Institute of Child Health

Enrolment target

Start

21 Mar 2024

Estimated completion

01 Dec 2026

SMA1

What is this study about?

This study is about understanding how children with a condition called Spinal Muscular Atrophy type 1 (SMA1) are developing, specifically focusing on their ability to speak, communicate, and swallow. SMA1 is a rare genetic condition that makes muscles weak and floppy because nerve cells that control movement don't work properly. In the past, children with SMA1 often faced serious health problems early in life.

However, new and effective treatments have changed this. Children with SMA1 are now living longer and doing much better. This means that doctors are seeing new aspects of their development that weren't common before. This research focuses on an area called 'bulbar function', which involves the muscles needed for speech, swallowing, and breathing. We want to see how these abilities change and improve over time in children who are receiving these new treatments.

The main goal is to figure out what typical development looks like for speech, communication, and swallowing in these children. By carefully tracking these improvements using special tests and questionnaires, we can help speech and language therapists create better, more tailored support plans. This will ultimately help improve the quality of life for children with SMA1 by enhancing their ability to communicate and eat safely.

Key takeaways

The study explores speech, communication, and swallowing in children with SMA type 1.
It's for children aged 0-18 who are already on SMA treatments.
The study involves regular visits over three years to track development.
Information gathered will help improve support and therapies for SMA kids.
There are optional extra tests like brain scans.
Your child won't receive new medication as part of this study.

Who may be eligible?

To be able to take part in this study, children need to meet certain requirements. They must have a confirmed genetic diagnosis of 5q SMA and have shown their first symptoms of the condition before they were six months old. The study is open to children and young people aged between birth and 18 years.

Crucially, all participants must already be receiving one of the approved treatments for SMA. Finally, a parent or legal guardian must be willing and able to understand and sign the consent forms, and commit to attending all the study appointments.

Children may not be able to participate if the study doctor believes that another medical condition would make it unsafe or too difficult to complete the study procedures. Also, if a parent or legal guardian is unable or unwilling to agree to the study requirements, the child will not be able to join.

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 your child 0-18 years old?
Does your child have a confirmed genetic diagnosis of 5q SMA?
Did your child show symptoms of SMA before 6 months of age?
Is your child currently receiving an approved SMA treatment?
Are you able to attend all study appointments over three years?

Answer every question to see your result.

What does participation involve?

If you decide to take part, the first step will be a "screening visit" where the study will be fully explained to you. You'll have the opportunity to ask any questions, and if you're happy, you'll sign a consent form. We'll then gather some basic information about your child's health journey, including their medical history and current medications. We'll also ask about their eating and drinking, if they use any special communication aids, and if they receive speech and language therapy. This information helps us check if your child is suitable for the study.

If eligible, your child will attend a baseline visit. During this visit, they'll have several assessments to check their speech, swallowing, communication, and thinking skills. We'll also record information about their breathing and muscle strength. There are also optional extra tests, like brain scans (MRI) or tests of brain electrical activity, which you can choose for your child to have. After this, your child will have follow-up visits every six months for a total of three years. At each visit, we'll track any changes, check on their health, and update their medication records. The study is designed to last for a total of three years.

Potential risks and benefits

Taking part in this study could offer several potential benefits, such as a thorough and regular assessment of your child's speech, communication, and swallowing development, which could help guide their ongoing care. The information we gather will also contribute to a better understanding of SMA type 1, which could lead to improved treatments and supportive therapies for all children with the condition in the future. As with any study, there could be some minor risks, such as the time commitment for appointments or any discomfort from certain assessments, especially the optional brain scans. We will discuss these fully with you. It's important to remember that participation is completely voluntary, and you have the right to withdraw your child from the study at any time, for any reason, without it affecting their medical care.

Locations (1)

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

Great Ormond Street Hospital
Verified postcode
London, United Kingdom· Recruiting

Common questions

What is SMA type 1?

SMA type 1 is a rare genetic condition that causes muscles to become weak and floppy because the nerves controlling them don't work properly. It usually shows up in babies before they are six months old.

What does 'bulbar function' mean?

Bulbar function refers to the ability to control muscles involved in speaking, swallowing, and sometimes breathing. These are important for communication and eating safely.

Will my child receive new medicine in this study?

No, this study is about observing children who are already receiving approved treatments for SMA. It's not testing a new medicine.

How long will the study last for my child?

If your child participates, they will be followed for a total of three years, with visits every six months.

Can I decide not to do the optional tests?

Yes, there are some optional tests like brain scans. You can choose whether or not your child takes part in these without affecting their involvement in the rest of the study.

How to find out more

Giovanni Baranello, MD

g.baranello@ucl.ac.uk 02079052872 Official trial record

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