RecruitingRare disease

Study on the Early Use of Risdiplam for Children with Spinal Muscular Atrophy After Gene Therapy

Verified siteRegistered drugNo placebo

Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a condition known as Spinal Muscular Atrophy (SMA), a genetic disorder that affects the muscles used for movement. The study is investigating the use of a treatment called risdiplam, which is administered as an oral solution. Risdiplam is being evaluated as an early intervention for children who have already received a gene therapy treatment called onasemnogene abeparvovec. The purpose of the study is to assess how effective and safe risdiplam is when given to pediatric patients with SMA after they have undergone gene therapy.

Participants in the study will receive risdiplam for a period of time, and the effects on their motor skills will be monitored. The study will look at changes in the participants' ability to move and perform physical activities over the course of the treatment. The treatment is given in a liquid form that can be taken by mouth or through a feeding tube if necessary. The study aims to provide valuable information on how risdiplam can help improve the quality of life for children with SMA.

Throughout the study, researchers will carefully observe the participants to ensure their safety and to gather data on how well the treatment works. The study is designed to last for a specific period, during which the participants' progress will be regularly assessed. This research is important for understanding how early intervention with risdiplam can benefit children with SMA who have already received gene therapy, potentially leading to better outcomes for those affected by this condition.

The research process

The trial runs in 4 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Enrollment
The study involves pediatric patients with a confirmed diagnosis of spinal muscular atrophy (SMA). The diagnosis must include genetic confirmation of the condition.
Patients must have received a specific gene therapy called onasemnogene abeparvovec between 3 to 7 months prior to joining the study.
Step 2
Treatment initiation
The treatment involves the administration of risdiplam, which is provided as an oral solution. It can be taken orally or through a nasogastric or gastrostomy tube if necessary.
The treatment is designed to be an early intervention following the gene therapy.
Step 3
Treatment duration
The treatment with risdiplam is planned to continue for a period of 72 weeks.
During this time, the effectiveness and safety of the treatment will be evaluated.
Step 4
Evaluation
The primary goal is to assess changes in motor skills using a specific developmental scale called the Bayley Scales of Infant and Toddler Development.
The evaluation will focus on the gross motor score, which will be measured at the end of the 72-week treatment period.

Who can join the trial?

7 criteria

The patient must have a confirmed diagnosis of **Spinal Muscular Atrophy (SMA)**, which is a genetic condition affecting muscle strength and movement.
The patient must have a genetic confirmation showing a specific type of genetic change called **5q-autosomal recessive SMA**. This includes a genetic test showing a loss of function in a gene called **SMN1**.
The patient must have two copies of another gene called **SMN2**, confirmed through a lab test.
The patient must have received a treatment called **onasemnogene abeparvovec** either before showing symptoms or within 3 months of showing symptoms.
The patient must have received **onasemnogene abeparvovec** for SMA at least 3 months but not more than 7 months before joining the study.
The parent or caregiver must be willing to consider using a feeding tube, such as a **nasogastric, naso-jejunal, or gastrostomy tube**, if recommended by the doctor, to ensure the patient gets enough fluids, nutrition, and treatment during the study.
The parent or caregiver must be willing to consider using **non-invasive ventilation**, which is a way to help with breathing without surgery, if recommended by the doctor during the study.

Who cannot join the trial?

9 criteria

Patients who have any other serious health conditions that could interfere with the study.
Patients who have had a previous treatment that might affect the study results.
Patients who are unable to follow the study procedures or attend the required visits.
Patients who are participating in another clinical trial at the same time.
Patients who have allergies or reactions to the study medication or similar drugs.
Patients who have a history of non-compliance with medical treatments.
Patients who are pregnant or breastfeeding.
Patients who have received a live vaccine within a certain period before the study starts.
Patients who have any condition that the study doctors believe would make it unsafe for them to participate.

Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.

We usually reply within a few days

Verified sites

All sites with verified contact details – recruitment status may not be available; ask directly

Charite Universitaetsmedizin Berlin KöR
Verified
Berlin, Germany
Instytut Pomnik Centrum Zdrowia Dziecka
Verified
Warsaw, Poland
Justus-Liebig-Universitaet Giessen
Verified
Giessen, Germany

Trial locations

Where you can join this trial

Countries are shaded by recruitment status. Click a recruiting country to ask about joining there.

RecruitingNot recruiting

Not finding your country?

Not sure what to do next?

Joining a clinical trial can seem overwhelming. We guide you step by step, so you know exactly what to expect and how we support you through the process.

See the full process and FAQ

Investigated drugs

Risdiplam
is a medication used in this study to treat pediatric patients with spinal muscular atrophy. It is given as an early intervention to help improve muscle function and slow the progression of the disease. Risdiplam works by increasing the production of a protein that is essential for muscle health.
Onasemnogene abeparvovec
is a gene therapy used in this study for treating spinal muscular atrophy in children. It delivers a functional copy of the gene that is missing or non-working in patients with this condition. This therapy aims to address the root cause of the disease by restoring the production of the necessary protein for muscle function.

Risdiplam

What is already known about the treatment

Risdiplam – Risdiplam is administered orally in liquid form and is used to treat Spinal Muscular Atrophy (SMA). It is currently recognized in medical literature as an effective treatment option for SMA, particularly in pediatric patients. The medication works by increasing the production of a protein essential for muscle function, which is deficient in individuals with SMA. Risdiplam is classified as a survival motor neuron-2 (SMN2) splicing modifier, helping to improve motor function and slow disease progression.

Investigated diseases

Spinal Muscular Atrophy (SMA) – Spinal Muscular Atrophy is a genetic disorder characterized by weakness and wasting of the muscles used for movement. It is caused by the loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain connected to the spinal cord. This leads to muscle weakness and atrophy, as the muscles are not properly stimulated by the nerves. The severity of the disease can vary, with some individuals experiencing significant physical limitations. SMA primarily affects infants and children, but it can also occur in adults. The progression of muscle weakness can impact activities such as crawling, walking, sitting up, and controlling head movements.