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Resamirigene Bilparvovec

Resamirigene Bilparvovec, also known as AT132, is an innovative gene therapy being studied in clinical trials for the treatment of X-Linked Myotubular Myopathy (XLMTM). This rare genetic disorder affects muscle function and can cause severe breathing difficulties. The ASPIRO trial is investigating the safety and effectiveness of AT132 in young male patients with XLMTM, offering hope for improved quality of life and reduced dependence on ventilatory support.

Table of Contents

What is RESAMIRIGENE BILPARVOVEC?

RESAMIRIGENE BILPARVOVEC, also known as AT132, is an experimental gene therapy drug being developed to treat X-Linked Myotubular Myopathy (XLMTM)[1]. It is classified as an advanced therapy medicinal product, specifically a gene therapy[1]. This innovative treatment is designed to address the underlying genetic cause of XLMTM.

The drug is also known by several other names, including:

  • Adeno-associated viral vector serotype 8 containing the human MTM1 gene
  • AT001
  • AT132

Target Condition: X-Linked Myotubular Myopathy (XLMTM)

X-Linked Myotubular Myopathy (XLMTM) is a rare genetic disorder that primarily affects males[1]. It is characterized by severe muscle weakness and decreased muscle tone, which can lead to breathing difficulties and the need for ventilatory support. XLMTM is caused by mutations in the MTM1 gene, which provides instructions for making a protein called myotubularin[1].

How RESAMIRIGENE BILPARVOVEC Works

RESAMIRIGENE BILPARVOVEC is designed to deliver a functional copy of the human MTM1 gene to the patient’s cells[1]. It uses a modified virus called adeno-associated virus serotype 8 (AAV8) as a vector to carry the gene. This virus has been chosen because it can effectively deliver genes to muscle cells without causing disease.

The therapy is administered through intravenous infusion, allowing it to circulate throughout the body and reach the affected muscle cells[1]. Once inside the cells, the functional MTM1 gene can produce the myotubularin protein, potentially improving muscle function and reducing the symptoms of XLMTM.

Clinical Trial Information

RESAMIRIGENE BILPARVOVEC is currently being studied in a clinical trial called ASPIRO[1]. This is a Phase 1/2/3 trial, which means it is designed to assess the safety, determine the best dose, and evaluate the effectiveness of the treatment. The trial is described as:

  • Randomized: Participants are assigned to different groups by chance
  • Open-label: Both researchers and participants know which treatment is being given
  • Ascending-dose: The dose of the treatment is gradually increased to find the optimal level
  • Delayed-treatment concurrent control: Some participants receive the treatment later in the study, serving as a comparison group

Eligibility Criteria

The trial has specific criteria for who can participate. Some key inclusion criteria are:

  • Male patients with a confirmed genetic diagnosis of XLMTM[1]
  • Age less than 5 years old at the time of dosing[1]
  • Requiring mechanical ventilatory support[1]

Some exclusion criteria include:

  • Participation in other interventional studies for XLMTM[1]
  • Significant liver disease or other serious medical conditions[1]
  • Recent or planned surgeries that might interfere with the study[1]

Study Endpoints

The trial is measuring several outcomes to determine if the treatment is effective and safe. The main goals include:

  • Reducing the need for ventilatory support[1]
  • Improving the ability to sit independently[1]
  • Enhancing overall muscle function and quality of life[1]

Safety Considerations

As with any experimental treatment, there are potential risks and side effects. The study is closely monitoring participants for:

  • Adverse events and serious adverse events[1]
  • Changes in liver function and structure[1]
  • Immune responses to the treatment[1]

It’s important to note that this treatment is still in the experimental stage. While it shows promise, more research is needed to fully understand its effectiveness and safety profile for patients with XLMTM.

Aspect Details
Drug Name Resamirigene Bilparvovec (AT132)
Trial Name ASPIRO: Phase 1/2/3 Study
Condition X-Linked Myotubular Myopathy (XLMTM)
Main Objectives Determine therapeutic dose, confirm safety and efficacy
Key Eligibility Male, under 5 years, requiring ventilatory support
Primary Endpoint Change in hours of ventilation support at Week 24
Key Secondary Endpoint Achievement of independent sitting for 30 seconds at Week 24
Administration Intravenous infusion
Safety Monitoring Adverse events, lab tests, ECG, echocardiograms, antibody formation

FAQ

  • What is Resamirigene Bilparvovec (AT132)? Resamirigene Bilparvovec, or AT132, is a gene therapy designed to treat X-Linked Myotubular Myopathy (XLMTM). It uses a special virus (AAV8) to deliver a working copy of the MTM1 gene to the patient's cells, potentially helping to improve muscle function.
  • Who is eligible for the ASPIRO trial? The trial is mainly for male patients under 5 years old with a confirmed genetic diagnosis of XLMTM. They must require some form of mechanical ventilation support and meet other specific health criteria.
  • What are the main goals of the ASPIRO trial? The primary goals are to determine the right dose of AT132 and to confirm its safety and effectiveness. The trial aims to reduce the need for ventilatory support and improve the ability of patients to sit independently.
  • How is the treatment administered? AT132 is given as a solution for infusion, which means it's delivered directly into the bloodstream through an intravenous (IV) line.
  • What are the potential benefits and risks of participating in the trial? Potential benefits include reduced need for ventilatory support and improved muscle function. However, as with any clinical trial, there may be risks and side effects. The study closely monitors participants for adverse events and uses various tests to ensure safety.

Ongoing Clinical Trials on Resamirigene Bilparvovec

  • Study on the Safety and Effectiveness of AT132 Gene Therapy for Patients with X-Linked Myotubular Myopathy

    Not recruiting

    1 1 1
    Investigated drugs:
    France Germany

Glossary

  • X-Linked Myotubular Myopathy (XLMTM): A rare genetic disorder that primarily affects males, causing severe muscle weakness and breathing difficulties from birth.
  • Gene therapy: A treatment that involves introducing genetic material into a person's cells to compensate for abnormal genes or to make a beneficial protein.
  • AAV8: A type of virus (adeno-associated virus) used in gene therapy to deliver genetic material to cells without causing disease.
  • MTM1 gene: The gene responsible for producing myotubularin, a protein essential for proper muscle function. Mutations in this gene cause XLMTM.
  • Mechanical ventilation: The use of a machine to help a person breathe when they cannot breathe sufficiently on their own.
  • Tracheostomy: A surgical procedure that creates an opening in the neck to place a tube into a person's windpipe, allowing air to enter the lungs.
  • PEEP: Positive End-Expiratory Pressure, a breathing therapy that helps keep the airways open.
  • CHOP INTEND: Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders, a test used to measure motor function in infants with neuromuscular disorders.
  • Maximal Inspiratory Pressure (MIP): A measure of the strength of the breathing muscles, specifically those used for inhaling.
  • Myotubularin: A protein essential for proper muscle function, which is lacking in patients with XLMTM.

References

  1. http://clinicaltrials.eu/trial/study-on-the-safety-and-effectiveness-of-at132-gene-therapy-for-patients-with-x-linked-myotubular-myopathy/