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Study on the Effectiveness and Safety of Risdiplam for Children with Spinal Muscular Atrophy After Gene Therapy

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What is this trial about?

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

This clinical trial is focused on studying Spinal Muscular Atrophy (SMA), a genetic condition that affects the muscles used for movement. The study will evaluate the effectiveness and safety of a treatment called risdiplam, which is given as an oral solution. This treatment is intended for children who have experienced a plateau or decline in their physical abilities after receiving a previous gene therapy known as onasemnogene abeparvovec.

The purpose of the study is to assess how well risdiplam works in improving the condition of children with SMA who have not shown further improvement or have worsened after their initial gene therapy. Participants will receive risdiplam for a period of time, and their progress will be monitored to see if there are any changes in their motor skills and overall function. The treatment is administered as a liquid that can be taken by mouth or through a feeding tube if necessary.

Throughout the study, the health and safety of the participants will be closely observed. The study aims to provide valuable information on whether risdiplam can help children with SMA regain or improve their physical abilities after experiencing a decline following gene therapy. This research is important for understanding how to better support children with this condition and improve their quality of life.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Joining the study
Upon joining the study, the patient must have a confirmed diagnosis of spinal muscular atrophy (SMA). This includes genetic confirmation of specific gene deletions or mutations.
The patient should have received a previous treatment called onasemnogene abeparvovec at least three months prior to joining the study.
Step 2
Initial assessment
An initial assessment will be conducted to evaluate the patient's current level of function. This includes documenting any plateau or decline in abilities such as swallowing and other motor functions.
Step 3
Medication administration
The patient will begin treatment with risdiplam, which is administered as an oral solution. It can also be given through a nasogastric tube or a gastrostomy tube if necessary.
The dosage and frequency of risdiplam will be determined by the study protocol and the healthcare provider overseeing the treatment.
Step 4
Ongoing monitoring
Throughout the study, the patient's progress will be monitored regularly. This includes tracking changes in motor skills using the Bayley Scales of Infant and Toddler Development.
The primary goal is to observe any changes in the patient's gross motor skills over a period of 72 weeks.
Step 5
Completion of study
The study is expected to conclude by February 29, 2028. At the end of the study, a final assessment will be conducted to evaluate the overall effectiveness and safety of risdiplam in the patient.

Who can join the trial?

7 criteria

Must have a confirmed diagnosis of **Spinal Muscular Atrophy (SMA)**, which is a genetic condition affecting muscle strength and movement.
Must have genetic confirmation showing a specific change in the **SMN1 gene**, which is important for muscle function.
Must have two copies of the **SMN2 gene**, as shown by lab tests. This gene helps with muscle function.
Must have received a treatment called **onasemnogene abeparvovec** either before or shortly after symptoms started (within 3 months of symptoms).
Must have received the **onasemnogene abeparvovec** treatment for at least 3 months.
The parent or caregiver must be open to using a feeding tube if needed during the study to ensure the patient gets enough fluids, food, and treatment safely.
The doctor must believe that the patient has shown a leveling off or decline in abilities after gene therapy, which should be documented within 6 months. This includes difficulties with swallowing and one other ability like breathing or moving.

Who cannot join the trial?

7 criteria

Patients who have not been diagnosed with Spinal Muscular Atrophy (SMA) cannot participate. SMA is a genetic disorder that affects the muscles.
Patients who have not received a treatment called onasemnogene abeparvovec before the study cannot participate. This is a specific gene therapy used to treat SMA.
Patients who are not within the age range specified for the study cannot participate. The study is for children aged 2 years and older.
Patients who are not able to take the study medication, risdiplam, cannot participate. Risdiplam is a medication used to treat SMA.
Patients who are not able to follow the study procedures or attend the required visits cannot participate.
Patients who have other medical conditions that might interfere with the study cannot participate.
Patients who are participating in another clinical trial at the same time cannot participate.

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Verified sites

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

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

Trial locations

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Investigated drugs

Risdiplam
is a medication used in this clinical trial to treat pediatric patients with Spinal Muscular Atrophy (SMA). It is designed to help improve motor function and slow the progression of the disease. Risdiplam works by increasing the production of a protein that is essential for muscle function, which is often lacking in patients with SMA.
Onasemnogene abeparvovec
is a gene therapy that was previously administered to the patients in this trial. It is used to treat Spinal Muscular Atrophy by delivering a functional copy of the gene responsible for producing the essential protein that SMA patients lack. This therapy aims to improve muscle strength and function in affected individuals.

Risdiplam

What is already known about the treatment

Risdiplam – Risdiplam is administered orally in liquid form and is currently approved for use in treating Spinal Muscular Atrophy (SMA). It is recognized in medical literature as an effective treatment option for SMA, particularly in pediatric patients. The main therapeutic indication for risdiplam is to improve motor function in individuals with SMA. At the molecular level, risdiplam works by modifying the splicing of the SMN2 gene, leading to an increase in the production of the survival motor neuron (SMN) protein, which is crucial for muscle function. It is classified as a survival motor neuron-2 (SMN2) splicing modifier.

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 receiving signals from the nerves. The severity of the disease can vary, with some individuals experiencing difficulty with basic movements such as sitting and walking. Over time, the muscle weakness can progress, affecting the ability to perform daily activities. The condition is typically diagnosed in infancy or early childhood, but milder forms can appear later in life.