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Study on the Safety and Pharmacokinetics of Risdiplam in Infants with Spinal Muscular Atrophy

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 Spinal Muscular Atrophy (SMA), a genetic condition that affects the muscles and nerves, leading to muscle weakness and movement difficulties. The study will use a treatment called Risdiplam, which is an oral solution designed to help manage the symptoms of SMA. The purpose of the study is to understand how Risdiplam is processed in the body and to evaluate its safety in infants diagnosed with SMA.

During the study, infants will receive Risdiplam as an oral solution, which can also be administered through a nasogastric tube or a gastrostomy tube if needed. The study will monitor the infants over a period to observe how their bodies handle the medication and to check for any side effects. The study aims to gather important information about the medication's safety and how it behaves in the body, which is known as pharmacokinetics.

Participants in the study will be closely observed for any changes in their health, including monitoring vital signs like heart rate and blood pressure, as well as conducting physical examinations. The study will also track any adverse events or unusual laboratory results to ensure the safety of the infants involved. This research is crucial for understanding the potential benefits and risks of Risdiplam in treating infants with Spinal Muscular Atrophy.

The research process

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

  1. Step 1

    Joining the study

    The study involves infants diagnosed with spinal muscular atrophy (SMA). Participation begins after meeting specific criteria, such as being less than 20 days old and having a genetic diagnosis of SMA.

    Infants must be receiving adequate nutrition and hydration and be in good health at the start of the study.

  2. Step 2

    Medication administration

    The medication used in this study is called risdiplam, provided as an oral solution. It can be administered orally or through a nasogastric or gastrostomy tube if necessary.

    The goal is to understand how the body processes risdiplam and to evaluate its safety.

  3. Step 3

    Monitoring and assessments

    Regular monitoring includes checking the concentration of risdiplam in the blood at specific times to understand its pharmacokinetics, which is how the drug moves through the body.

    Assessments will also focus on the incidence and severity of any adverse events, which are unexpected medical problems that occur during treatment.

  4. Step 4

    Safety evaluations

    Safety evaluations include monitoring for any serious adverse events and checking for any abnormal laboratory or ECG values.

    Vital signs such as body temperature, blood pressure, heart rate, and respiratory rate will be regularly checked.

  5. Step 5

    Physical examinations

    Physical examinations will be conducted, including detailed checks of the skin and mouth, to ensure the infant's well-being throughout the study.

  6. Step 6

    Study duration

    The study is expected to continue until July 31, 2025, with recruitment starting on January 15, 2024.

Who can join the trial?

6 criteria

  • The baby must be a boy or girl who is less than 20 days old when they receive the first dose.
  • The baby must have a genetic diagnosis of **5q-autosomal recessive SMA**. This means they have a specific type of **Spinal Muscular Atrophy** identified through genetic testing, newborn screening, or prenatal testing.
  • The baby must have been born after at least 37 weeks of pregnancy. This is known as **gestational age**.
  • The baby must be getting enough food and water at the time of the initial check-up.
  • The baby must have recovered from any recent illness and be healthy enough to join the study.
  • The baby's parent or caregiver must be open to using a feeding tube if the study doctor thinks it's necessary. This could be a **nasogastric tube** (a tube through the nose to the stomach), a **nasojejunal tube** (a tube through the nose to the small intestine), or a **gastrostomy tube** (a tube directly into the stomach) to ensure the baby gets enough food, water, and medicine safely during the study.

Who cannot join the trial?

8 criteria

  • Patients who have any other serious health conditions that could interfere with the study.
  • Patients who are currently participating in another clinical trial.
  • Patients who have had a recent surgery or are planning to have surgery during the study period.
  • Patients who are pregnant or breastfeeding.
  • Patients who have a history of allergic reactions to similar medications.
  • Patients who are unable to follow the study procedures or attend the required visits.
  • Patients who have a history of drug or alcohol abuse.
  • Patients who have any condition that the study doctors believe would make it unsafe for them to participate.
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Investigated drugs

Risdiplam is a medication being studied for its effects on infants with Spinal Muscular Atrophy (SMA). The trial aims to understand how the body processes this medication and to assess its safety for use in young patients. Risdiplam is designed to help improve muscle function and slow the progression of SMA by increasing the production of a protein that is crucial for muscle health.

What is already known about the treatment

Risdiplam – Risdiplam is administered orally in liquid form and is currently being studied in clinical trials for its effectiveness and safety in treating Spinal Muscular Atrophy (SMA). It is an approved medication in some regions and is well-documented in medical literature for its role in SMA treatment. The main therapeutic indication for risdiplam is to improve motor function in individuals with SMA. At the molecular level, risdiplam works by increasing the production of a protein called survival motor neuron (SMN), which is crucial for muscle function. It is classified as a small molecule 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 a 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 progressive muscle weakness and atrophy, primarily affecting the muscles closest to the center of the body, such as the shoulders, hips, and back. The severity of the disease can vary, with some individuals experiencing significant physical limitations. SMA is typically classified into different types based on the age of onset and the highest physical milestone achieved. Over time, individuals with SMA may experience difficulties with activities such as walking, sitting, and even breathing.
Trial detailsLast updated 2 Oct 2026
Age0-17PhasePhase IITrial ID2023-505602-42-00Protocol codeBN44619Estimated enrolment10 patientsSponsorF. Hoffmann-La Roche AG

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