Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy
This study is for children aged 0 to 15 with Spinal Muscular Atrophy (SMA) who are being treated with new medications. We are trying to understand the different ways SMA can now affect people thanks to these new treatments, as new patterns are appearing. Over two years, we will carefully observe these children to see how their bodies and minds are responding. We also want to find the best tools and tests to regularly monitor their health, both for routine check-ups and for future studies. Finally, we'll look at the overall costs linked to SMA to help improve healthcare planning.
Em resumo
Sobre o que é este estudo?
Spinal Muscular Atrophy (SMA) is a condition that affects muscles and movement. In recent years, new treatments have become available that can help improve the lives of people with SMA. Before these new treatments, the condition often followed a more predictable path. However, with these new medicines, doctors are seeing people with SMA develop in new and different ways that weren't common before.
This study, called 'Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy', aims to understand these new ways the condition is developing. Researchers will follow children under 16 who have SMA and are receiving these new treatments for two years. They want to carefully describe how these treatments are changing the disease and what these changes mean for the children's health and development.
A really important part of this study is finding the best ways to keep an eye on people with SMA. This means looking at different tests and assessments to see which ones are most helpful for checking on their progress and health over time. The goal is to make sure doctors have the best tools to look after patients with SMA in the future and to help with planning new research studies.
Pontos principais
- This study focuses on children with SMA aged 0-15.
- It aims to understand how new SMA treatments are changing the condition.
- Researchers will look for better ways to monitor SMA patients.
- The study lasts for two years and involves various health checks.
- Children must be on an existing SMA treatment to join.
Quem pode ser elegível?
To join this study, children must have Spinal Muscular Atrophy (SMA) that has been confirmed by a genetic test. They must also be receiving one of the newer SMA treatments, such as nusinersen, risdiplam, or onasemnogene abeparvovec, which work by helping the body produce more of a certain protein (SMN).
The study is for children aged 0 up to 15 years old. Before taking part, parents or legal guardians will need to give their permission, and the child will also be asked if they agree to join if they are old enough to understand.
Children cannot take part if they have another health condition that would make it hard to properly check their SMA, or if they have another brain or nerve condition. Pregnant or breastfeeding individuals also cannot participate. If a child cannot have an MRI scan due to things like metal in their body or feeling very anxious in small spaces, they can still join the study, but they won't have an MRI.
Este estudo pode ser adequado para você?
Responda a estas perguntas rápidas para ver se você pode ser elegível. Este é apenas um guia — a decisão final é da equipe de pesquisa.
- Is the child aged between 0 and 15 years old?
- Does the child have SMA confirmed by a genetic test?
- Is the child currently receiving treatment for SMA (like nusinersen, risdiplam, or onasemnogene abeparvovec)?
- Does the child not have any other major nerve condition or issue that would make assessing SMA difficult?
- Are you (the parent/guardian) and the child willing to provide consent?
O que envolve a participação?
If you or your child decides to take part in this study, it will involve being observed for two years. During this time, the research team will carry out various tests and assessments. These might include checking muscle strength and movement, looking at how well the brain is working at different times, and evaluating heart health. They may also use an MRI scan to look at the body's internal structures (though this won't happen if there's a medical reason not to).
Other assessments could involve looking at how active the child is and if they get tired easily, checking swallowing and speech, and understanding body make-up and how the body uses energy. You'll also be asked to fill out questionnaires, and some samples like blood or tissue might be collected. Measurements like skin fold thickness may also be taken. All these tests are designed to understand the impact of the treatments and how best to monitor patients. You won't be given any new medication as part of this study; it's about observing the effects of treatments already being received.
Riscos e benefícios potenciais
Locations (8)
- Pediatric Rehabilitation Service - L'Escale Mother and Child HospitalCódigo postal verificadoBron, França· Recrutamento
- CHRU of BrestCódigo postal verificadoBrest, France· Ainda não recrutando
- Pediatric Neurology and Resuscitation Raymond-Poincare HospitalCódigo postal verificadoGarche, France· Ainda não recrutando
- Pediatric Neurology Swynghedauw HospitalCódigo postal verificadoLille, France· Ainda não recrutando
- Marseille University Hospital - Timone Hospital Department of Pediatric Neurology - Specialized Pediatrics and Child MedicineCódigo postal verificadoMarselha, França· Ainda não recrutando
- I-Motion Pediatric Clinical Trial Platform Armand Trousseau HospitalCódigo postal verificadoParis, França· Ainda não recrutando
- Hautepierre Hospital - Mother and Child HospitalCódigo postal verificadoEstrasburgo, França· Ainda não recrutando
- Department of Pediatrics - Neurology and Infectious Diseases Toulouse University Hospital - Children's HospitalCódigo postal verificadoToulouse, France· Ainda não recrutando
Perguntas frequentes
What is SMA?
Spinal Muscular Atrophy (SMA) is a genetic condition that causes muscles to become weak and waste away, making movements difficult.
What are 'new phenotypes'?
With new treatments, SMA is affecting people in ways that weren't common before. 'New phenotypes' describe these new patterns of how the condition shows up in individuals.
Will I receive new treatment in this study?
No, this study observes patients already receiving existing approved SMA treatments; no new experimental medication will be given.
Quanto tempo dura o estudo?
Participants will be followed for a period of two years.
Can children who can't have an MRI still join?
Yes, children with a medical reason not to have an MRI can still participate; they just won't have that specific test.
Como saber mais
Laure LE GOFF, PI
Sempre consulte seu médico ou especialista antes de decidir participar de um estudo.
Interessado em participar?
Discussão
Discussão da comunidade
Desenvolvido pelo nosso fórum em community.patient.info. Por favor, seja respeitoso — isto não é um conselho médico.