Not recruitingRare disease

Study on the Effects of Risdiplam in Adults with Spinal Muscular Atrophy Types 2 or 3 or with Up to 4 SMN2 Gene Copies

Verified siteRegistered drugNo placebo

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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 the effects of a medication called Risdiplam, also known by its brand name Evrysdi, in adults with a condition called Spinal Muscular Atrophy (SMA). SMA is a genetic disorder that affects the muscles, leading to weakness and wasting. The study will include adults with specific types of SMA, known as type 2 or type 3, or those with up to four copies of a gene called SMN2. The purpose of the study is to observe various health outcomes in these patients over a period of 24 months while they are treated with Risdiplam.

Participants in the study will receive Risdiplam as an oral solution, which means it is taken by mouth. The study will track changes in the participants' clinical and functional health from the start of the study to the end of the 24-month period. This includes looking at how well the patients can perform daily activities and any changes in their muscle function. Additionally, the study will monitor certain substances in the blood, known as biomarkers, to see how they change with treatment. These biomarkers include neurofilament light chain and neurofilament heavy chain, which are proteins that can provide information about nerve health.

The study will also assess the safety and tolerability of Risdiplam, meaning it will look at how well patients can handle the medication and any side effects they might experience. The goal is to gather comprehensive information on how Risdiplam affects adults with SMA over the long term, providing valuable insights into its benefits and any potential risks. Participants will be followed closely throughout the study to ensure their safety and to collect detailed data on their health outcomes.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Beginning of the trial
Upon joining the study, you will start by providing written consent. This means you agree to participate after understanding the details of the study.
You will be required to use highly effective birth control methods if you are of childbearing potential. This is to ensure safety during the trial period.
Step 2
Initial assessment
An initial assessment will be conducted to confirm your eligibility. This includes verifying your diagnosis of Spinal Muscular Atrophy (SMA) and ensuring you meet the criteria for treatment with Risdiplam (Evrysdi®).
Step 3
Medication administration
You will begin taking Risdiplam, which is provided as an oral solution called Evrysdi 0.75 mg/mL. The medication is taken by mouth.
The dosage and frequency will be determined by the study team, and you will continue this treatment for a duration of 24 months.
Step 4
Regular monitoring
Throughout the trial, regular monitoring will occur to track changes in your clinical and functional outcomes. This involves various assessments to measure the effects of the treatment.
Blood tests will be conducted to analyze specific biomarkers, which are indicators of how your body is responding to the treatment.
Step 5
Safety and tolerability assessment
The study will also focus on assessing the safety and tolerability of Risdiplam. This means checking for any side effects or adverse reactions you may experience during the trial.
Step 6
End of the trial
At the end of the 24-month period, a final assessment will be conducted to evaluate the overall outcomes of the treatment.
You will be informed about the results and any further steps if necessary.

Who can join the trial?

5 criteria

The participant must provide voluntary written informed consent. This means they agree to join the study after understanding all the details.
The participant must use highly effective birth control methods if they are of childbearing potential. This includes options like hormonal contraception, intrauterine devices, or sexual abstinence. Male participants must use a barrier method, like a condom, if they are sexually active with a woman who can become pregnant.
The participant must be an adult, which means they are 18 years or older.
The participant must have a confirmed genetic diagnosis of 5q-autosomal recessive Spinal Muscular Atrophy (SMA). This means they have specific genetic changes related to SMA.
The participant must be eligible for treatment with Risdiplam (Evrysdi®). This includes those with SMA type 2 or 3 or those with up to 4 SMN2-gene copies. They should not require permanent invasive ventilation. They can either be new to this treatment or already receiving it as part of their standard care.

Who cannot join the trial?

5 criteria

Patients who have a different condition than Spinal Muscular Atrophy (SMA) cannot participate.
Patients who are not adults cannot participate.
Patients who do not have SMA type 2 or 3, or do not have up to 4 copies of the SMN2 gene cannot participate. The SMN2 gene is a part of your DNA that can affect SMA.
Patients who are not treated with Risdiplam (Evrysdi®) cannot participate. Risdiplam is a medication used to treat SMA.
Patients who are part of a vulnerable population cannot participate. This means people who might need special protection or care.

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Responsive
Katholieke Universiteit te Leuven
Leuven, Belgium

Trial locations

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Investigated drugs

Risdiplam is a medication used in this clinical trial to treat adults with Spinal Muscular Atrophy (SMA). It works by helping the body produce more of a protein that is important for the health of nerve cells. These nerve cells are crucial for muscle movement. By increasing the levels of this protein, Risdiplam aims to improve muscle function and slow down the progression of SMA. Patients in the trial will be taking Risdiplam for a period of 24 months to see how it affects their muscle strength and overall physical abilities.

Risdiplam

What is already known about the treatment

Evrysdi – Evrysdi is a medication administered orally, typically in liquid form, and is used to treat Spinal Muscular Atrophy (SMA) in adults. It is currently recognized in medical literature as an effective treatment for SMA, specifically for types 2 and 3, and for patients with up to 4 copies of the SMN2 gene. The main therapeutic indication for Evrysdi is to improve motor function and slow the progression of SMA. At the molecular level, Evrysdi works by increasing the production of a protein called SMN, which is crucial for the health and function of motor neurons. It is classified pharmacologically as a survival motor neuron-2 (SMN2) splicing modifier.

Investigated diseases

Spinal Muscular Atrophy (SMA) – Spinal Muscular Atrophy is a genetic disorder characterized by the progressive degeneration of motor neurons in the spinal cord. This leads to muscle weakness and atrophy, primarily affecting the muscles closest to the center of the body. The disease progresses by causing increasing difficulty in movement, with symptoms varying based on the type and severity of the condition. In SMA type 2, symptoms typically appear in early childhood, and individuals may be able to sit but not walk independently. SMA type 3, also known as Kugelberg-Welander disease, usually manifests later in childhood or adolescence, with affected individuals able to walk but experiencing gradual muscle weakness. The progression of SMA is influenced by the number of copies of the SMN2 gene, which can modify the severity of the disease.