Congenital myopathy – European Clinical Trials Information Network https://clinicaltrials.eu Bridging Patients with Clinical Trials Thu, 18 Jun 2026 04:08:02 +0000 en-US hourly 1 https://wordpress.org/?v=7.0 https://clinicaltrials.eu/wp-content/uploads/2024/12/cropped-EU_icon-32x32.png Congenital myopathy – European Clinical Trials Information Network https://clinicaltrials.eu 32 32 Study of ASP2957 Gene Therapy for Male Patients with X-linked Myotubular Myopathy Who Require Breathing Support with Ventilators https://clinicaltrials.eu/trial/study-of-asp2957-gene-therapy-for-male-patients-with-x-linked-myotubular-myopathy-who-require-breathing-support-with-ventilators/ Thu, 30 Apr 2026 13:08:38 +0000 https://clinicaltrials.eu/trial/study-of-asp2957-gene-therapy-for-male-patients-with-x-linked-myotubular-myopathy-who-require-breathing-support-with-ventilators/ This study is for male patients with X-linked myotubular myopathy, a rare genetic condition that affects the muscles and makes it difficult to breathe without help. The disease is caused by changes in a gene called MTM1 that leads to weak muscles throughout the body. Patients with this condition often need machines called ventilators to help them breathe through a tube placed in their windpipe. The study will test a treatment called ASP2957, which is a gene therapy given as a single infusion directly into the vein. This treatment is designed to deliver a working copy of the MTM1 gene to the muscle cells so they can produce a protein called myotubularin that is missing or not working properly in patients with this disease.

The purpose of the study is to evaluate the safety and tolerability of ASP2957 and to determine the recommended dose level. The study will also look at whether the treatment shows early signs of helping patients by measuring changes in how many hours per day they need ventilator support. The study will start with lower doses of the treatment and may increase the dose in later groups of patients to find the best and safest amount to use. Before receiving the treatment, patients will have various tests including blood tests, liver ultrasound, heart tests using electrocardiogram and echocardiogram, and muscle imaging using MRI.

During the study, patients will be closely monitored for any side effects and to see how their body responds to the treatment. Doctors will check the patient’s liver, heart, and muscles regularly through blood tests, imaging scans, and physical examinations. The study will also measure the amount of the gene therapy in different body samples such as blood, saliva, urine, stool, and muscle tissue. Additionally, the immune system’s response to the treatment will be measured by testing for antibodies against the gene therapy. Patients will be followed for at least 52 weeks after receiving the treatment to carefully track their progress and safety.

]]> A study to evaluate the safety and effectiveness of surlorian in adults with RYR1-related myopathy https://clinicaltrials.eu/trial/a-study-to-evaluate-the-safety-and-effectiveness-of-surlorian-in-adults-with-ryr1-related-myopathy/ Wed, 29 Apr 2026 15:09:48 +0000 https://clinicaltrials.eu/trial/a-study-to-evaluate-the-safety-and-effectiveness-of-surlorian-in-adults-with-ryr1-related-myopathy/ This study focuses on individuals with Autosomal Dominant RYR1-Related Myopathy, a rare muscle disease caused by specific changes in the RYR1 gene that affect how muscles function. The purpose of the study is to evaluate the effectiveness and safety of a medication called Surlorian, also known as ARM210 or S48168, compared to a placebo.

Participants will receive either the study drug or a placebo in the form of a film-coated tablet taken by oral use. To ensure the results are unbiased, the study uses a double-blind method, meaning neither the participants nor the researchers know which treatment is being administered. Over a period of approximately 28 days, the effects of the medication on muscle strength and how quickly muscles tire will be monitored.

]]> Study on Salbutamol for Improving Muscle Strength in Patients with Congenital Myopathy https://clinicaltrials.eu/trial/study-on-salbutamol-for-improving-muscle-strength-in-patients-with-congenital-myopathy/ Wed, 29 Apr 2026 14:30:33 +0000 https://clinicaltrials.eu/trial/study-on-salbutamol-for-improving-muscle-strength-in-patients-with-congenital-myopathy/ 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.

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