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.
במבט חטוף
על מה המחקר הזה?
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.
נקודות עיקריות
- 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.
- אתם יכולים להוציא את ילדכם מהמחקר בכל עת.
- The study aims to understand a new treatment option for SMA.
מי עשוי להיות זכאי?
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.
האם מחקר זה יכול להתאים לך?
ענה על השאלות המהירות הללו כדי לבדוק אם אתה עשוי להיות זכאי. זהו מדריך בלבד — צוות המחקר מקבל את ההחלטה הסופית.
- 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?
מה כרוך בהשתתפות?
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.
סיכונים ותועלות פוטנציאליים
מיקומים (17)
- אוניברסיטת ארקנסו למדעי הרפואהמיקוד מאומתליטל רוק, ארצות הברית
- Valley Children's Hospitalמיקוד מאומתMadera, United States
- Stanford Univ Medical Centerמיקוד מאומתפאלו אלטו, ארצות הברית
- Children's Hospital of Coloradoמיקוד מאומתאורורה, ארצות הברית
- University of Florida Pediatricsמיקוד מאומתגיינסוויל, ארצות הברית
- Children's Healthcare of Atlanta Center for Advanced Pediatricsמיקוד מאומתאטלנטה, ארצות הברית
- Helen DeVos Children's Hospital at Spectrum Healthמיקוד מאומתגרנד ראפידס, ארצות הברית
- University of Texas Southwestern Medical Centerמיקוד מאומתדאלאס, ארצות הברית
- Charité - Universitätsmedizin Berlin SPZ Abteilung Neuropaediatrieמיקוד מאומתברלין, גרמניה
- UKGM Standort Gießenמיקוד מאומתGiessen, Germany
- Soroka Medical Centerמיקוד מאומתבאר שבע, ישראל
- Schneider Children's Medical Center of Israelמיקוד מאומתפתח תקווה, ישראל
שאלות נפוצות
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.
What is gene therapy?
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.
מי מממן את המחקר הזה?
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.
כמה זמן יימשך המחקר עבור הילד שלי?
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.
כיצד לגלות עוד
תמיד התייעץ עם רופא המשפחה או המומחה שלך לפני שתחליט להשתתף במחקר.
דיון
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