A Phase II, Open-label Study to Investigate the Pharmacokinetics and Safety of Risdiplam in Infants with Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a rare genetic condition that causes muscles to weaken over time. Risdiplam (also known as Evrysdi) is a liquid medicine designed to treat SMA by helping the body produce a protein that keeps motor nerves healthy. This Phase II clinical trial is studying how babies process risdiplam. Doctors want to measure how much medicine enters the bloodstream, how long it stays there, and whether it causes any unwanted side effects. Babies in the study receive the liquid medicine daily. Doctors will monitor them closely with regular check-ups, blood tests, heart checks, and physical exams to ensure their safety. The goal is to help doctors understand the right doses for infants so they can receive the safest and most effective care.
At a glance
What is this study about?
Spinal muscular atrophy (SMA) is a condition that affects the nerves in the spinal cord that control muscle movement. Without enough of an essential protein called SMN, these nerve cells break down, leading to muscle weakness and problems with movement, breathing, and swallowing. Finding treatments that can be started early in infancy is crucial for protecting these nerves.
Risdiplam (brand name Evrysdi) is an approved treatment for SMA that comes as an oral liquid. It works by helping the body make more working SMN protein. While the medicine is already used in many patients, this study focuses specifically on infants to understand how their growing bodies absorb, break down, and clear the medicine over time.
Because babies develop quickly, their bodies can process medicines differently from older children and adults. By tracking the exact levels of risdiplam in the blood and watching carefully for any side effects, researchers can confirm the safest and most effective way to dose the medicine in the youngest patients.
Taking part in this study helps doctors build a clearer picture of how to treat infants with SMA early in life, which can make a significant difference to their long-term muscle health and development.
Key takeaways
- Tests risdiplam (Evrysdi) liquid medicine specifically in infants with spinal muscular atrophy.
- Measures how an infant's body absorbs and clears the medicine to ensure proper dosing.
- Monitors safety closely through regular check-ups, blood tests, and heart monitoring.
- This is an open-label study, so every baby receives the active medicine without placebos.
- Participation is entirely voluntary, and you can leave at any time.
Who may be eligible?
This study is open to infants who have been diagnosed with spinal muscular atrophy (SMA). Both boys and girls can take part. Parents or guardians must be willing and able to give the study medicine at home and bring their child to the hospital for scheduled study visits.
Babies may not be able to join if they have other serious health issues that could make taking the medicine unsafe or make it difficult to understand the study results. Babies who have previously received certain other gene-directed treatments for SMA might also be unable to take part.
Your child's paediatric specialist will carefully review their medical history, genetic test results, and overall health to confirm whether this study is suitable for them.
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.
- My baby has a confirmed medical diagnosis of spinal muscular atrophy (SMA).
- My baby is an infant (within the trial's specific age group).
- My baby can take liquid medicine by mouth or through a feeding tube.
- I am able to bring my baby to the hospital for regular check-ups and monitoring.
- My baby has not had conflicting treatments that would rule them out.
What does participation involve?
Taking part involves giving your baby risdiplam once a day as a liquid solution, either by mouth or through a feeding tube. You will be given clear instructions and measuring equipment to do this safely at home.
You and your baby will need to visit the hospital clinic regularly. During these visits, doctors will perform gentle physical checks, looking closely at your baby's skin and mouth. They will check vital signs such as temperature, heart rate, and blood pressure, and perform heart traces (ECGs).
The team will also take small blood samples to check how much medicine is in your baby's blood and to test their liver and kidney health. The study team will follow your baby over several months to closely track their growth, safety, and development.
Potential risks and benefits
Locations (6)
- —UnverifiedNorway
- —UnverifiedItaly
- —UnverifiedBelgium
- —UnverifiedGermany
- —UnverifiedPoland
- —UnverifiedNetherlands
Common questions
What does 'open-label' mean?
Open-label means that both you and the doctors know your baby is receiving the real medicine (risdiplam). There is no dummy medicine (placebo) used in this trial.
How is the study medicine given?
It is a liquid medicine that is given once a day using an oral syringe, taken either by mouth or through a feeding tube.
Will taking part cost anything?
No, the study medicine and all study-related tests are provided free of charge. Most trials also offer help with travel costs to and from the hospital.
Can my baby still see their regular paediatrician?
Yes. The trial doctors will work alongside your baby's usual healthcare team to make sure their overall care continues smoothly.
What happens if we want to stop the trial?
You can leave the study at any time for any reason. Your decision will not change your relationship with your doctors or affect your child's access to standard NHS care.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
Community discussion
Powered by our forum at community.patient.info. Please be respectful — this is not medical advice.