A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy
This study is investigating a new approach for young children under two years old who have Spinal Muscular Atrophy (SMA). These children have already received a gene therapy called onasemnogene abeparvovec. Now, doctors want to see if adding another medicine called Risdiplam as an early treatment can further improve their health and whether it is safe. SMA is a serious genetic condition that weakens muscles. This research aims to understand if giving Risdiplam after gene therapy provides extra benefits for these children. The study is open to children with a specific genetic type of SMA and two copies of the SMN2 gene. It's a way to find out if this combination treatment can offer better outcomes for very young children battling this condition.
Em resumo
Sobre o que é este estudo?
This study is called 'A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy.' That's a bit of a mouthful, so let's break it down. It's looking into a medicine called Risdiplam for young children who have Spinal Muscular Atrophy (SMA).
SMA is a condition that affects the nerves that control muscles, leading to muscle weakness over time. This study is for children who have already received a gene therapy treatment for their SMA. Gene therapy aims to correct some of the underlying problems of SMA. Now, doctors want to see if adding Risdiplam, a different type of medicine, to their treatment plan makes them even better. They're also checking how safe it is to use Risdiplam in this way.
The main goal is to find out if giving Risdiplam sớm to children who've already had gene therapy can help them regain or keep more muscle strength and function, and to ensure this is done safely. This research is important because it could lead to better ways to treat SMA for very young children.
Pontos principais
- This study is for very young children (under 2 years) with SMA.
- Children must have already received gene therapy (onasemnogene abeparvovec).
- It tests if adding Risdiplam provides extra benefits and is safe.
- Risdiplam helps the body make more vital protein for muscle health.
- Participation involves giving Risdiplam and having regular health checks.
- You can withdraw your child from the study at any time.
Quem pode ser elegível?
To join this study, children need to be less than two years old. They must have a confirmed diagnosis of a specific type of SMA, which means genetic tests showed they have changes in their SMN1 gene. They also need to have exactly two copies of another gene called SMN2.
Crucially, they must have already received the gene therapy treatment called onasemnogene abeparvovec. This gene therapy should have been given to them at least 13 weeks ago, but no more than 30 weeks ago. If they had Risdiplam before the gene therapy, it must have been for a very short time (less than 3 weeks) and stopped at least one day before the gene therapy. The doctors also need to feel that the child hasn't gotten significantly worse since their gene therapy treatment.
There are also reasons why a child couldn't join. For example, if they have other serious health problems, need a breathing machine (invasive ventilation or tracheostomy), or have certain blood test results that aren't normal. Children who have recently been in hospital for serious illnesses or have had other similar SMA treatments that interfere with the SMN2 gene would also not be able to take part.
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 my child under 2 years old?
- Does my child have a confirmed diagnosis of 5q SMA?
- Has my child received onasemnogene abeparvovec gene therapy?
- Was the gene therapy given between 13 and 30 weeks ago?
- Does my child have two copies of the SMN2 gene?
- Does my child NOT require a breathing machine (invasive ventilation/tracheostomy)?
O que envolve a participação?
If your child takes part in this study, they will receive the medicine Risdiplam. This is an "open-label" study, meaning both you and the study team will know your child is receiving Risdiplam. It's a "single-arm" study, which means all children in the study will get Risdiplam; there isn't a group that gets a placebo or different treatment.
The study involves regular visits to a clinic at different times to check your child's health, do physical examinations, take measurements, and perhaps collect blood samples. These visits are to see how the Risdiplam is affecting your child's SMA and to check for any side effects. The exact number of visits and the full duration of treatment and follow-up will be explained by the study team, but it will involve ongoing assessments over a period of time.
Riscos e benefícios potenciais
Localizações (16)
- Universidade de Ciências Médicas do ArkansasCódigo postal verificadoLittle Rock, Estados Unidos· Recrutamento
- Hospital Infantil do ColoradoCódigo postal verificadoAurora, Estados Unidos· Recrutamento
- University of Florida PediatricsCódigo postal verificadoGainesville, Estados Unidos· Recrutamento
- Children's Healthcare of Atlanta Center for Advanced PediatricsCódigo postal verificadoAtlanta, Estados Unidos· Recrutamento
- Ann and Robert H. Lurie Children Hospital of ChicagoCódigo postal verificadoChicago, Estados Unidos· Retirado
- Helen DeVos Children's Hospital at Spectrum HealthCódigo postal verificadoGrand Rapids, United States· Retirado
- Centro Médico da Universidade de ColumbiaCódigo postal verificadoNova Iorque, Estados Unidos· Retirado
- Children'S Hospital of PhiladelphiaCódigo postal verificadoFiladélfia, Estados Unidos· Retirado
- The University of Texas Southwestern Medical Center at DallasCódigo postal verificadoDallas, Estados Unidos· Recrutamento
- Cook Children's Jane and John Justin Neurosciences CenterCódigo postal verificadoFort Worth, Estados Unidos· Recrutamento
- Children's Hospital of the King's DaughterCódigo postal verificadoNorfolk, United States· Retirado
- Charité - Universitätsmedizin Berlin SPZ Abteilung NeuropaediatrieCódigo postal verificadoBerlim, Alemanha· Recrutamento
Perguntas frequentes
What is SMA?
SMA, or Spinal Muscular Atrophy, is a genetic condition that causes muscles to become weak over time because of problems with the nerves that control them.
What is Risdiplam?
Risdiplam is a medicine for SMA that helps the body to produce more of a protein called SMN, which is usually missing or low in people with SMA.
O que é terapia genética?
Gene therapy, like onasemnogene abeparvovec, is a treatment that aims to deliver a working copy of the gene that is faulty in SMA to the body's cells.
Will my child definitely get better if they join?
No, there's no guarantee your child will definitely get better. This study is testing if adding Risdiplam after gene therapy can offer more benefits, but outcomes can vary for each child.
Can I take my child out of the study if I change my mind?
Yes, you can withdraw your child from the study at any time without having to give a reason, and it won't affect their regular medical care.
Como saber mais
Reference Study ID Number: BN44620 https://forpatients.roche.com/ No attachments to email below.
Sempre consulte seu médico ou especialista antes de decidir participar de um estudo.
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