A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapy
This research study is for very young children (under 2 years old) in the UK who have a muscle weakness condition called spinal muscular atrophy (SMA). These children have already had a type of gene therapy (onasemnogene abeparvovec), but their condition hasn't improved as expected, or they've started to get worse. The study is testing a medicine called risdiplam to see if it's safe and effective for these children. Risdiplam is given as a liquid by mouth. The main goal is to find out if this medicine can help improve or stabilize their muscle function and overall health. It's an 'open-label' study, meaning everyone involved knows which treatment is being given.
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¿De qué trata este estudio?
This study is about a muscle condition called spinal muscular atrophy (SMA), which causes muscles to become weak. There are different types of SMA, and this study focuses on very young children (under two years old) with a specific genetic type of SMA who have two copies of a gene called SMN2.
Many children with SMA have received a gene therapy treatment (sometimes called onasemnogene abeparvovec). This study is for children who had that gene therapy but haven't continued to get better, or their condition has even started to worsen. Researchers want to see if adding another medicine, called risdiplam, can help these children. Risdiplam is a liquid medicine taken by mouth.
The main idea is to evaluate if risdiplam can be a helpful and safe treatment for these young children after gene therapy, particularly if their development has slowed down or declined. The study aims to gather important information that could help doctors understand how best to treat children with SMA in the future.
Puntos clave
- This study is for children under 2 with SMA who had gene therapy.
- It tests risdiplam medicine to see if it helps after gene therapy.
- Children must have stable or worsening function after their gene therapy.
- Regular hospital visits and assessments will be part of the study.
- You can withdraw your child from the study at any time.
- The study aims to understand a new treatment option for SMA.
¿Quién puede ser elegible?
This study is looking for babies and toddlers under two years old who have been diagnosed with a specific type of spinal muscular atrophy (SMA) based on genetic tests. They must have two copies of a gene called SMN2. A key part of joining is that they must have already received a gene therapy treatment (onasemnogene abeparvovec) for their SMA at least 13 weeks before starting this study.
Importantly, a doctor must believe that their condition or functional abilities (like swallowing, breathing, or moving) have either stayed the same or gotten worse since they had the gene therapy, for at least 26 weeks. If they ever took risdiplam before the gene therapy, it must have been for a very short time (less than 3 weeks) and stopped at least a day before.
There are also some reasons why a child might not be able to join. For example, if they've participated in other research studies recently, have certain ongoing health problems or lab test results, or have had serious illnesses or hospital stays recently. Children who need permanent breathing support (like a ventilator or tracheostomy), or who have previously taken certain other SMA medicines, cannot join this study.
¿Podría este estudio ser adecuado para ti?
Responde estas preguntas rápidas para ver si puedes ser elegible. Esto es solo una guía: el equipo de investigación toma la decisión final.
- Is your child under 2 years old?
- Does your child have a confirmed diagnosis of SMA with two copies of the SMN2 gene?
- Has your child already received onasemnogene abeparvovec (gene therapy)?
- Has it been at least 13 weeks since their gene therapy?
- Does your doctor feel your child's SMA has not improved or has gotten worse since gene therapy?
- Has your child not been on other SMA medicines (like nusinersen) or certain other study drugs?
¿En qué consiste la participación?
If your child qualifies and you choose to participate, they will receive the study medicine, risdiplam, given as a liquid by mouth. This is an 'open-label' study, which means everyone involved will know that your child is receiving risdiplam.
Your child will have regular visits to the hospital or clinic. These visits will involve various tests and assessments to check their health, how they are developing, and how they are responding to the medicine. These might include physical examinations, blood tests, and assessments of their muscle strength and abilities. These visits will continue for a certain period to monitor their progress and safety. The total duration of participation will be explained in detail by the study team.
Riesgos y beneficios potenciales
Locations (17)
- University of Arkansas for Medical SciencesCódigo postal verificadoLittle Rock, Estados Unidos
- Valley Children's HospitalCódigo postal verificadoMadera, United States
- Stanford Univ Medical CenterCódigo postal verificadoPalo Alto, Estados Unidos
- Children's Hospital of ColoradoCódigo postal verificadoAurora, Estados Unidos
- University of Florida PediatricsCódigo postal verificadoGainesville, Estados Unidos
- Children's Healthcare of Atlanta Center for Advanced PediatricsCódigo postal verificadoAtlanta, Estados Unidos
- Helen DeVos Children's Hospital at Spectrum HealthCódigo postal verificadoGrand Rapids, United States
- University of Texas Southwestern Medical CenterCódigo postal verificadoDallas, United States
- Charité - Universitätsmedizin Berlin SPZ Abteilung NeuropaediatrieCódigo postal verificadoBerlín, Alemania
- UKGM Standort GießenCódigo postal verificadoGiessen, Germany
- Soroka Medical CenterCódigo postal verificadoBeersheba, Israel
- Schneider Children's Medical Center of IsraelCódigo postal verificadoPetah Tikva, Israel
Preguntas comunes
What is risdiplam?
Risdiplam is a liquid medicine taken by mouth that helps the body produce more of a protein essential for nerve and muscle health in people with SMA.
¿Qué es la terapia génica?
Gene therapy is a medical treatment that aims to fix the root cause of a genetic disease by introducing a new, healthy gene into the body.
Who is funding this study?
The study's sponsor is Roche, a pharmaceutical company.
Will my child stop their current SMA treatment?
This study is for children who have already had gene therapy and whose condition has plateaued or declined. Risdiplam would be an additional treatment, but you should discuss all current treatments with the study team.
How long will the study last for my child?
The detailed duration for each child will be explained by the study team, as it can vary, but it involves regular check-ups over a period of time.
Cómo obtener más información
Siempre hable con su médico de cabecera o especialista antes de decidir participar en un estudio.
Discusión
Discusión comunitaria
Impulsado por nuestro foro en community.patient.info. Por favor, sea respetuoso — esto no es un consejo médico.