RecruitingOBSERVATIONAL

Natural History Study of Children With LAMA2-related Dystrophies

This study, taking place in France, aims to understand more about a rare muscle condition called LAMA2-related dystrophies (LAMA2-RD) in children. For two years, researchers will carefully follow children aged 2 to 15 who have this condition. They will look at many different aspects, including muscle movement, breathing, how they think and learn, their quality of life, and how they grow. They'll also collect blood samples for future research. Currently, there isn't a specific treatment for LAMA2-RD, so this study is vital. By gathering detailed information directly from patients, we can gain a clearer picture of how the condition progresses, identify the best ways to measure its effects, and find suitable participants for future studies testing new therapies. This will help doctors and researchers develop effective treatments in the future.

At a glance

Status

Recruiting

Sponsor

Institut de Myologie, France

Enrolment target

Start

05 Dec 2024

Estimated completion

31 Dec 2027

Merosin Deficient Congenital Muscular Dystrophy

What is this study about?

This study is all about understanding a rare muscle condition called LAMA2-related dystrophies, or LAMA2-RD, in children. Imagine a detective story: the researchers are trying to gather all the clues about how this condition affects young people. They want to learn how it changes over time, what symptoms are most common, and how it impacts a child's daily life, from their ability to move and breathe to how they think and feel. By carefully watching and examining children with LAMA2-RD for two years, they'll build a complete picture of the disease's 'natural history' – how it progresses without specific treatment.

Why is this detailed understanding so important? Well, right now, there isn’t a widely approved treatment for LAMA2-RD. Before scientists can test new medicines, they need to know what changes to look for that would show a treatment is working. This study will help them figure out the best ways to measure improvements in things like muscle strength or breathing. It will also help identify which children might benefit most from future treatments. The information gathered here will be crucial for developing and testing new therapies in the years to come.

Essentially, this study is laying the groundwork. By creating a detailed group of children with LAMA2-RD who are carefully monitored, researchers will have a solid foundation for future clinical trials. They'll also be collecting samples like blood, which can be stored and used later to discover new markers that show how the disease is progressing. All of this collaboration and careful data collection is a big step towards finding future treatments for LAMA2-RD.

Key takeaways

The study aims to understand how LAMA2-related dystrophies affects children.
It will track children aged 2-15 with the condition for two years.
No new treatments are given; the focus is on observation.
Data gathered will help doctors design future treatment trials.
Assessments include muscle, breathing, thinking skills, and quality of life.
Blood samples will be collected for future research.

Who may be eligible?

To join this study, a child must be between 2 and 15 years old. They need to have a clear diagnosis of LAMA2-related dystrophy, which means genetic tests must show specific changes in the LAMA2 gene, or a muscle biopsy must confirm the absence of a protein called merosin, along with a genetic change in LAMA2. It's also important that they don't have any other serious brain or nerve conditions.

The child (if old enough, from 6 years) and their parent or legal guardian will need to agree to take part and understand the study plan. They should be willing to keep up their usual exercise or physical therapy. The family also needs to be part of the French social security system or a similar recognised scheme.

Children cannot join if they have learning difficulties that would make getting an MRI scan very hard, or if they've been very ill or hospitalised recently (in the last month). They also can't be pregnant or breastfeeding, or have taken part in another trial for LAMA2-RD or used unapproved treatments in the last month that might affect this study's results. The study team will make sure the child is generally well enough to participate.

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 between 2 and 15 years old?
Has your child been diagnosed with LAMA2-related dystrophy, confirmed by genetic tests?
Does your child not have another severe neurological condition?
Are you and your child (if old enough) willing to follow the study plan and attend visits?
Are you part of the French social security system or a similar recognised scheme?
Has your child generally been healthy recently and not hospitalised in the last month?

Answer every question to see your result.

What does participation involve?

If your child joins this study, they will be followed for two years. This will involve regular visits where a team of specialists will check various aspects of their health. These check-ups will include assessments of their muscle strength and movement, tests to see how well their lungs are working, and checks on their heart. There will also be assessments to understand their thinking skills and overall quality of life. Doctors will also measure their growth and may take X-rays of their spine and MRI scans of their muscles. Blood samples will be collected for further research. There are no new medications or experimental treatments given as part of this study; it's purely about observing and understanding the condition without changing current care. Each visit will involve several assessments, and the overall duration of involvement will be around two years.

Potential risks and benefits

Participating in this study might not directly benefit your child, as no new treatments are being given. However, the information gathered will be extremely valuable to the wider medical community, helping researchers better understand LAMA2-RD and pave the way for future treatments. Potential risks are generally low, mostly related to the discomfort of certain tests like blood draws or MRI scans, which can sometimes be noisy. Some tests, like X-rays, involve a small amount of radiation, which your doctor can explain. You have the right to withdraw your child from the study at any time and for any reason, without it affecting their medical care.

Locations (4)

Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré
Verified postcode
Garches, France· Not yet recruiting
Service de MPR pédiatrique L'Escale - HCL
Verified postcode
Lyon, France· Not yet recruiting
Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac
Verified postcode
Montpellier, France· Not yet recruiting
Plateforme d'essais cliniques pédiatriques iMotion
Verified postcode
Paris, France· Recruiting

Common questions

What is a 'natural history' study?

It means researchers are observing how a condition progresses over time without giving any new treatments. It's like watching a plant grow to understand its life cycle.

Will my child receive new medicine in this study?

No, this study does not involve giving any new medicines or experimental treatments. Its purpose is to observe and gather information.

How long will my child participate?

Each child will be followed for a period of two years, with regular check-ups during that time.

Why is this study important if there's no new treatment?

The information gathered is crucial for understanding LAMA2-RD better. This knowledge will help design future clinical trials and find effective treatments down the line.

Where is the study taking place?

This study is establishing a group of patients in France.

How to find out more

Andreea SEFERIAN, Dr

a.seferian@institut-myologie.org +33 (0)1 71 73 80 50 Official trial record

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