Ongoing Clinical Trials for Neuromyopathy
There is currently 1 ongoing clinical trial investigating gene therapy for X-linked Myotubular Myopathy, a rare genetic form of neuromyopathy that primarily affects young boys. The trial is testing AT132, a gene therapy designed to address the underlying genetic cause of the condition by delivering a healthy copy of the MTM1 gene to muscle cells.
Clinical trial locations
- France
- Germany
Study on the Safety and Effectiveness of AT132 Gene Therapy for Patients with X-Linked Myotubular Myopathy
This clinical trial is focused on X-linked Myotubular Myopathy, a rare genetic condition that affects muscle strength and function, primarily in young boys. The study is testing a new treatment called AT132, which is a type of gene therapy. Gene therapy involves using a specially designed virus to deliver a healthy copy of a gene into the body.
Inclusion criteria: To participate in this study, patients must have a confirmed diagnosis of X-linked Myotubular Myopathy through genetic testing showing a mutation in the MTM1 gene. All participants must be male and younger than 5 years old at the time of treatment. Participants must require mechanical ventilation support, which can range from full-time mechanical ventilation to noninvasive support during sleep using devices like CPAP or BiPAP. Those needing breathing support most of the day must have or be willing to have a cuffed tracheostomy tube placed. The breathing machine setting called PEEP must be less than 8 cm H2O during screening. Parents or legal guardians must provide consent, and both the patient and guardian must be willing and able to attend study visits and follow procedures. In France specifically, patients must weigh at least 4.8 kg.
Exclusion criteria: This study is only open to males; females cannot participate. Individuals who do not have X-linked Myotubular Myopathy are not eligible for the trial.
Study focus: The main goal of this research is to determine the best dose of AT132 and to confirm its safety and effectiveness in treating X-linked Myotubular Myopathy. Participants will receive the treatment through an intravenous infusion, which means the solution is delivered directly into the bloodstream. The study will follow participants over time to monitor changes in their condition, particularly looking at changes in the hours of ventilation support needed at Week 24. Researchers will also assess the ability to sit independently for at least 30 seconds, reductions in ventilator support, changes in neuromuscular function, and overall quality of life. Some participants may receive a placebo as part of the study design. The study includes regular check-ups to assess health indicators such as muscle strength, breathing ability, and overall quality of life, with follow-up continuing until the estimated study end date of January 29, 2030.
Investigational drug: AT132, also known as resamirigene bilparvovec, is a gene therapy that uses a viral vector called AAV serotype 8 to deliver a functional copy of the human MTM1 gene to patients. This approach aims to address the genetic cause of X-linked Myotubular Myopathy by providing the body with the correct gene needed for muscle function. The therapy helps in the production of myotubularin, a protein essential for normal muscle function.
Summary
Currently, there is one active clinical trial investigating treatment options for X-linked Myotubular Myopathy, a rare form of neuromyopathy. This trial is being conducted in two European countries, France and Germany, and focuses on evaluating the safety and effectiveness of AT132 gene therapy. The study is specifically designed for young male patients under 5 years of age who require mechanical ventilation support due to their condition. The research represents an innovative approach to treating this genetic disorder by addressing its underlying cause through gene therapy, delivering a healthy copy of the MTM1 gene to help restore normal muscle function. The trial will continue for several years, monitoring both short-term and long-term outcomes to understand how well this treatment approach works for patients with this challenging condition.