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Study on Salbutamol for Improving Muscle Strength in Patients with Congenital Myopathy

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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 group of muscle disorders known as . These are conditions present from birth that affect muscle strength and function. The study aims to explore the effects of a medication called , which is commonly used to help with breathing problems, on improving muscle strength and function in individuals with congenital myopathy. The medication will be given in two forms: an oral solution known as and tablets called available in 2 mg and 4 mg doses.

The purpose of this study is to see if taking salbutamol can help increase muscle strength and improve muscle function in people with congenital myopathy. Participants will receive the medication for a period of six months. During this time, their muscle strength and function will be assessed using a test called MFM 32, which measures different aspects of muscle performance. The study will also look at other factors such as walking distance, hand strength, and overall quality of life to see if there are improvements after taking the medication.

Participants will be monitored throughout the study to ensure their safety and to track any changes in their condition. The study will compare the results from the period when participants are taking salbutamol to a period when they are not, to determine the effectiveness of the treatment. The goal is to find out if salbutamol can be a beneficial treatment option for improving the lives of those affected by congenital myopathy.

The research process

The trial runs in 7 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 congenital myopathy. This includes clinical symptoms and specific genetic mutations.
The patient must be between 6 and 30 years old and have stable muscle function scores over the past 6 months.
Step 2
Initial assessment
An initial assessment is conducted to establish a baseline for muscle strength and function using the MFM32 test.
The patient must have undergone a cardiac evaluation within the last 2 years, showing no signs of cardiac abnormalities.
Step 3
Medication administration
The patient will receive salbutamol in different forms: oral solution (Ventoline 0.4 mg/ml) and tablets (2 mg and 4 mg).
The medication is administered orally, with the dosage and frequency determined by the study protocol.
Step 4
Treatment period
The treatment period lasts for 6 months. During this time, the patient continues to take the prescribed medication.
The primary goal is to observe an increase in muscle strength and function compared to the baseline.
Step 5
Evaluation of primary outcomes
After 6 months, the patient's muscle function is reassessed using the MFM32 test to determine any improvements.
The primary outcome is an increase in the MFM32 score compared to the baseline.
Step 6
Evaluation of secondary outcomes
Secondary outcomes include increased walking distance, reduced fatigue, improved hand strength, and enhanced quality of life.
These are measured through various tests, such as the 6-minute walking test and hand-held myometry.
Step 7
Completion of the study
The study is estimated to end by December 31, 2025.
Upon completion, the patient's overall progress and any changes in muscle function and quality of life are documented.

Who can join the trial?

8 criteria

The patient or their legal guardians must sign a form agreeing to participate in the study.
The patient must have a confirmed diagnosis of **congenital myopathy**. This means they have symptoms that match this condition, along with specific findings from a muscle biopsy and a known genetic mutation related to congenital myopathy. Alternatively, they can have symptoms and a known genetic mutation, even if the biopsy findings are not specific.
The patient's **MFM32** score, which measures muscle function, should be stable over at least 6 months. A small change of up to two points is allowed.
If the patient is taking other medications, the dose must have been stable for at least 3 months before starting the study.
The patient must score at least 1 point on the **MFM32** test during the screening visit.
The patient must be between 6 and 30 years old.
Women who can have children are allowed to use birth control pills.
The patient must have had a heart check-up, including an **ECG** (a test that records the heart's electrical activity) and a **2D echocardiography** (an ultrasound of the heart), in the last 2 years. They should not have any signs or symptoms of heart problems.

Who cannot join the trial?

4 criteria

Individuals who do not have congenital myopathy, which is a condition present from birth that affects muscle strength and function, cannot participate.
Participants must be within the specified age range for the study. If you are outside this age range, you cannot join.
Both males and females are eligible, but if you do not identify as either, you may not be able to participate.
If you belong to a group considered vulnerable, such as children or individuals with certain disabilities, you may not be eligible.

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Queen Silvia Childrens Hospital - Sahlgrenska University Hospital - Vaestra Goetalandsregionen
Gothenburg, Sweden

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Investigated drugs

Salbutamol is a medication used in this study to help improve muscle strength and function in individuals with congenital myopathy. It is typically known for its use in treating asthma by relaxing the muscles in the airways, but in this trial, it is being tested for its potential benefits on muscle performance. The study aims to see if taking salbutamol can lead to an increase in muscle strength and function over a period of six months.

Salbutamol

What is already known about the treatment

Salbutamol – Salbutamol is typically administered in the form of an inhaler or nebulizer, allowing for direct delivery to the lungs, though it can also be given orally or intravenously in some cases. It is currently being studied in clinical trials for its potential benefits in treating congenital myopathy, a condition characterized by muscle weakness. The main therapeutic indication for salbutamol in this context is to enhance muscle strength and function. At the molecular level, salbutamol works by stimulating beta-2 adrenergic receptors, leading to muscle relaxation and improved airflow in the lungs, and potentially increasing muscle strength. It is classified pharmacologically as a bronchodilator, commonly used to treat asthma and other respiratory conditions.

Investigated diseases

Congenital Myopathy – Congenital myopathy is a group of muscle disorders present from birth that primarily affect skeletal muscles, leading to muscle weakness. These conditions are characterized by specific structural abnormalities in muscle fibers, which can be identified under a microscope. The severity of muscle weakness can vary widely, from mild to severe, and may affect the ability to perform everyday activities. Muscle weakness is often most noticeable in the muscles closest to the center of the body, such as those in the shoulders, hips, and spine. Over time, individuals with congenital myopathy may experience difficulties with motor skills, such as walking or climbing stairs. The progression of muscle weakness can be slow, and the condition is typically stable or only slowly progressive.