Congenital myopathy Trials in Disease

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

This trial is investigating whether salbutamol, a medication commonly used to help with breathing problems in asthma, can improve muscle strength and function in people with congenital myopathy. The medication will be given as an oral solution (Ventoline 0.4 mg/ml) and tablets (2 mg and 4 mg doses) over a six-month treatment period.

Main inclusion criteria:

• Participants must have a confirmed diagnosis of congenital myopathy, either through clinical symptoms combined with specific findings from a muscle biopsy and genetic testing, or through clinical symptoms and known genetic mutations related to the condition
• Age between 6 and 30 years old
• Stable muscle function scores (MFM32) over at least 6 months, with only small changes of up to two points allowed
• Must score at least 1 point on the MFM32 test during screening
• If taking other medications, the dose must have been stable for at least 3 months before starting the study
• Must have had a recent heart check-up (within the last 2 years), including an ECG and ultrasound of the heart, with no signs of heart problems
• Participants or their legal guardians must sign a consent form agreeing to participate

Main exclusion criteria:

• Individuals who do not have congenital myopathy cannot participate
• Participants outside the specified age range (6 to 30 years) are not eligible
• Certain vulnerable groups may not be eligible for participation

Focus and goals:

The primary goal of this trial is to determine whether taking salbutamol can increase muscle strength and improve muscle function in people with congenital myopathy. The main measure of success will be an improvement in the MFM32 score, which assesses different aspects of muscle performance, after six months of treatment compared to the baseline assessment.

Secondary outcomes that will be evaluated include increased walking distance (measured through a 6-minute walking test), reduced fatigue, improved hand strength (measured using hand-held myometry), and enhanced overall quality of life. The study will compare results from the period when participants are taking salbutamol to a period when they are not, to determine the effectiveness of the treatment.

Investigational drug:

The medication being tested is salbutamol, which works by stimulating beta-2 adrenergic receptors in the body. While it is traditionally used as a bronchodilator to relax muscles in the airways for asthma treatment, this study is exploring its potential to enhance muscle strength and function in patients with congenital myopathy. The study is estimated to be completed by December 31, 2025.