Study of Risdiplam for Infants with Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy

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What is this study about?

This clinical trial is focused on studying a condition known as Spinal Muscular Atrophy (SMA), which is a genetic disorder that affects the muscles used for movement. The study is specifically looking at infants who have been genetically diagnosed with SMA but have not yet shown symptoms. The treatment being tested in this study is called Risdiplam, which is given as an oral solution. The purpose of the study is to evaluate how effective Risdiplam is in helping infants with SMA, particularly those with two copies of a specific gene known as the survival motor neuron (SMN)2 gene.

During the study, infants will receive Risdiplam for a period of up to 60 months. The study will monitor the infants’ ability to achieve certain developmental milestones, such as sitting without support, over the course of the treatment. The study will also look at other aspects of the infants’ health, including their ability to swallow and feed orally, as well as their growth and development. The study aims to see if Risdiplam can help improve these areas for infants with SMA.

Throughout the study, various devices will be used to accurately measure and administer the oral solution. These include special dispensers and bottle adapters that ensure the correct amount of medication is given. The study will also track any side effects or adverse events that may occur during the treatment period. The ultimate goal is to determine if Risdiplam can provide a meaningful benefit to infants with SMA, potentially improving their quality of life and developmental outcomes.

1 joining the study

Upon joining the study, the infant must be between 1 day and 6 weeks old, with a minimum age of 7 days for the first enrolled infant.

The infant should have a gestational age of 37-42 weeks for single births or 34-42 weeks for twins, and a body weight at or above the 3rd percentile for their age.

A genetic diagnosis of 5q-autosomal recessive spinal muscular atrophy (SMA) is required, with confirmation of specific genetic markers.

The infant should not show clinical signs or symptoms of SMA at the time of screening or baseline.

2 treatment administration

The treatment involves the administration of risdiplam, an oral solution, which is taken by mouth.

The dosage and frequency of administration are determined by the study protocol and the healthcare provider overseeing the trial.

3 treatment duration

The treatment is administered over a period of 12 months, with the primary goal of assessing the infant’s ability to sit without support after this duration.

The study also evaluates various developmental milestones and health parameters at 12 and 24 months.

4 evaluation and monitoring

Throughout the study, the infant’s progress is monitored through regular assessments, including motor function tests and developmental milestone evaluations.

The study measures the infant’s ability to achieve specific motor milestones, such as head control, sitting, and walking, at different intervals.

5 safety and side effects

The study monitors the incidence and severity of any adverse events or side effects related to the treatment.

Regular laboratory tests and health checks are conducted to ensure the infant’s safety and well-being.

6 study completion

The study is estimated to conclude by March 31, 2027, with ongoing assessments and data collection throughout the trial period.

Upon completion, the results will contribute to understanding the efficacy and safety of risdiplam in treating infants with presymptomatic SMA.

Who Can Join the Study?

Participants can be both males and females.
Participants should be between 1 day to 6 weeks old at the time of the first dose. The first infant enrolled must be at least 7 days old.
For single births, the gestational age should be between 37 to 42 weeks. For twins, it should be between 34 to 42 weeks. Gestational age refers to how long the baby was in the womb before birth.
The baby’s body weight should be at or above the 3rd percentile for their age, based on specific guidelines for the country. This means the baby should not be underweight for their age.
A genetic diagnosis of 5q-autosomal recessive Spinal Muscular Atrophy (SMA) is required. This includes confirmation of certain genetic changes that predict the loss of function of the SMN1 gene, which is important for muscle control.
There should be no clinical signs or symptoms at the time of screening or baseline that strongly suggest SMA, according to the investigator’s opinion. This means the baby should not show obvious signs of the disease.
The baby must be receiving adequate nutrition and hydration at the time of screening, as determined by the investigator. This means the baby should be well-fed and hydrated.

Who Cannot Join the Study?

Patients with a known SMN2 gene modifier mutation cannot participate. This is a specific change in the gene that can affect the study results.
Patients with a compound muscle action potential (CMAP) amplitude less than 1.5mV are excluded. This is a measure of muscle response to nerve signals, and it needs to be at a certain level to join the study.

Where you can join this trial?

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Other Sites

Site Name	City	Country	Status
Centre Hospitalier Regional De La Citadelle	Liege	Belgium
Uqskjybxzzfwzj Cjrjffe Kkekivctv	Gdansk	Poland

Trial status

Country	Status	Recruitment Start
Belgium	Not recruiting	07.08.2019
Poland	Not recruiting	07.08.2019

Trial locations

Investigated drugs:

Risdiplam

Risdiplam is a medication being studied for its effectiveness in infants who have been genetically diagnosed with spinal muscular atrophy (SMA) but have not yet shown symptoms. The goal of the study is to see how well risdiplam works in helping these infants, particularly those with two copies of the SMN2 gene, to sit without support after 12 months of treatment. Risdiplam is designed to increase the production of a protein that is important for muscle function, which may help improve motor skills in these patients.

Investigated diseases:

Spinal muscular atrophy

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 and spinal cord to the muscles, enabling movement. In SMA, the lack of SMN protein leads to the progressive degeneration of these neurons, resulting in muscle weakness and atrophy. The severity and progression of the disease can vary, with some individuals experiencing significant motor impairment early in life, while others may have milder symptoms that progress more slowly. SMA primarily affects the muscles closest to the center of the body, such as those in the shoulders, hips, and back.

Trial ID:

2023-506009-20-00

Protocol code:

BN40703

Trial Phase:

Therapeutic exploratory (Phase II)

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Study of Risdiplam for Infants with Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy

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