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Study on the Safety and Effects of Risdiplam for Adults and Children with Spinal Muscular Atrophy

Verified siteInvestigationalNo 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 a condition known as Spinal Muscular Atrophy (SMA), which is a genetic disorder that affects the muscles, leading to weakness and wasting. The study is investigating a treatment called Risdiplam, which is provided as an oral solution. Risdiplam is designed to help improve the function of the muscles in people with SMA.

The purpose of the study is to evaluate the safety and how well the body tolerates Risdiplam in both adults and children who have SMA. Participants in the study will receive Risdiplam and will be monitored over a period of time to see how their bodies respond to the treatment. The study will also look at how Risdiplam is processed in the body, which is known as pharmacokinetics, and how it affects the body, known as pharmacodynamics.

Throughout the study, participants will have regular check-ups to monitor their health and any changes in their condition. This includes looking at any side effects they might experience and measuring levels of certain proteins in the blood that are related to SMA. The study aims to gather important information that could help improve treatment options for people living with SMA in the future.

The research process

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

  1. Step 1

    Joining the study

    Upon joining the study, eligibility is confirmed based on age, diagnosis, and previous treatments. The study is open to individuals aged 6 months to 60 years with a confirmed diagnosis of spinal muscular atrophy (SMA).

    Previous participation in specific studies or treatments is required, such as Study BP29420 (Moonfish) or treatments with nusinersen, olesoxime, or onasemnogene abeparvovec.

  2. Step 2

    Initial assessment

    An initial assessment is conducted to ensure recovery from any acute illness and to evaluate overall health. This includes a review of medical history and current health status.

    For patients aged 2 years or younger, additional considerations include nutritional and hydration status, and the potential need for supportive measures like tube feeding or noninvasive ventilation.

  3. Step 3

    Medication administration

    The medication used in the study is risdiplam, administered as an oral solution. The specific dosage and frequency are determined by the study protocol and the investigator's assessment.

    The goal is to evaluate the safety and tolerability of risdiplam, as well as its behavior in the body, including how it is absorbed, distributed, metabolized, and excreted.

  4. Step 4

    Monitoring and follow-up

    Regular monitoring is conducted to track any adverse events, changes in vital signs, and laboratory results. This includes physical, neurological, and ophthalmological examinations.

    The study also measures the levels of SMN mRNA and protein in the blood, which are important for understanding the effects of the medication.

  5. Step 5

    Completion of the study

    The study is estimated to conclude by April 29, 2024. Upon completion, a final assessment is conducted to evaluate the overall outcomes and any long-term effects of the treatment.

    Participants are informed of the study results and any implications for their ongoing care.

Who can join the trial?

9 criteria

  • Participants must be males or females aged between 6 months and 60 years at the time of screening.
  • Participants must have a confirmed diagnosis of a specific type of Spinal Muscular Atrophy, known as 5q-autosomal recessive SMA.
  • Participants must have been previously enrolled in a specific study called BP29420 (Moonfish) or have been treated with certain medications for SMA, such as nusinersen (having received at least 4 doses, with the last dose at least 90 days before screening), olesoxime (last dose received between 18 months and 90 days before screening), or onasemnogene abeparvovec (AVXS-101) (treatment received at least 12 months before screening).
  • Participants must have recovered from any recent illness and be considered well enough to participate, according to the study doctor.
  • For participants aged 2 years or younger at screening:
    • They must be receiving adequate nutrition and hydration, with or without a feeding tube, as judged by the study doctor.
    • Their medical care must meet the local standard of care, according to the study doctor.
    • They must be able to complete all study procedures, and their parent or caregiver must have supportive circumstances, as judged by the study doctor.
    • Their parent or caregiver must be willing to consider the placement of a feeding tube if recommended by the study doctor, to ensure safe nutrition and treatment delivery.
    • Their parent or caregiver must be willing to consider the use of noninvasive ventilation if recommended by the study doctor during the study.

Who cannot join the trial?

2 criteria

  • Patients who have not previously participated in the Study BP29420 (Moonfish) with the splicing modifier RO6885247.
  • Patients who have not been previously treated with medications such as nusinersen, AVXS-101, or olesoxime.
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Investigated drugs

  • Risdiplam

    is a medication being studied for its safety and how well it is tolerated in patients with Spinal Muscular Atrophy (SMA). It works by helping to increase the production of a protein that is important for muscle function. This study aims to understand how the body processes this medication and its effects on patients who have previously participated in related studies or have been treated with other SMA therapies.

  • Nusinersen

    is a treatment for Spinal Muscular Atrophy that is administered through an injection into the spinal fluid. It helps to increase the production of a protein that is crucial for the health of motor neurons, which are responsible for muscle movement. This medication is included in the study to compare its effects with those of other treatments.

  • AVXS-101

    , also known as onasemnogene abeparvovec, is a gene therapy used to treat Spinal Muscular Atrophy. It works by delivering a copy of the gene that is missing or not working properly in SMA patients, helping to restore the production of the necessary protein for muscle function. This therapy is part of the study to evaluate its long-term effects and compare it with other treatments.

  • Olesoxime

    is a medication that was previously investigated for its potential to protect nerve cells in patients with Spinal Muscular Atrophy. Although it is not currently used as a standard treatment, it is included in the study to assess its past effects on patients and to compare it with newer therapies.

What is already known about the treatment

Risdiplam – Risdiplam is administered orally and is currently being studied in clinical trials for its safety and effectiveness in treating Spinal Muscular Atrophy (SMA). It is an approved medication in the medical literature for SMA, focusing on improving motor function in affected individuals. The drug works by modifying the splicing of the SMN2 gene, which increases the production of the survival motor neuron (SMN) protein, essential for muscle function. Risdiplam is classified as a splicing modifier, targeting the genetic cause of SMA to enhance muscle strength and function.

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 a deficiency of a protein called survival motor neuron (SMN), which is crucial for the health of motor neurons. These motor neurons are responsible for sending signals from the brain to the muscles, and their loss leads to muscle weakness and atrophy. The disease typically begins in infancy or early childhood, but the age of onset and severity can vary. As the condition progresses, individuals may experience difficulty with activities such as walking, sitting, and even breathing. SMA is classified into different types based on the age of onset and the highest physical milestone achieved.
Trial detailsLast updated 2 Oct 2026
Age18+ yearsPhasePhase IITrial ID2023-506739-14-00Protocol codeBP39054Estimated enrolment167 patientsSponsorF. Hoffmann-La Roche AG

sourced from the EU Clinical Trials Register and site verification

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