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Will Be Recruiting
Astellas Study ID
2957-CL-0101

A Study of ASP2957 in Male Patients with X-linked Myotubular Myopathy Who Need Ventilators

Astellas Study ID
N/A
Clinicaltrials.gov ID
N/A
EUCTIS ID
N/A
EUCTIS ID
N/A
jRCT ID
N/A
CN CDE ID
N/A
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Study summary

The goal of the study is to find out if the study drug ASP2957 is safe and effective as a treatment for people with X-Linked Myotubular Myopathy (XLMTM). Researchers will look at how ASP2957, an experimental gene therapy treatment, can act in the body. This study is a Phase 1/2 clinical trial. “Phase 1” means that researchers will test ASP2957 in people for the first time to see if it is safe and to determine the appropriate dose given to patients with XLMTM. “Phase 2” means that researchers will test ASP2957 to see if it can help people with XLMTM. ASP2957 has not been approved by any health authority for sale or for treatment in any country.

Additional Study Details

Phase
Phase 1/2
Product
  • ASP2957
  • Methylprednisolone
  • Prednisolone
  • Sirolimus
    • Type
    Interventional
    Masking
    None (Open Label)
    Enrollment number
    9
    Show Additional Study Details

    Who May Participate

    This trial is enrolling male children no older than 36 months of age at dosing who have a confirmed diagnosis of XLMTM with a variant in the MTM1 gene. Participants must also be ventilator-dependent meeting the following criteria:

    • Required respiratory support at birth
    • Requires ≥ 20 hours per day of invasive ventilator support
    • Has a tracheostomy tube
    • Can receive immunosuppression per protocol

    What to expect

    The clinical trial has been designed to last a little over a year (up to 15 months) from the time of informed consent to the last visit. It involves regular visits to the study clinic and healthcare visits at home.

    There will be 4 stages in the trial:

    • Screening - 45 days (1.5 months) for medical tests to see if the trial may be a good match for your child.
    • Baseline - 30 days (1 month) for additional observation and testing to make sure your child is eligible for the trial and that the trial is suitable for them.
    • Hospital Stay and Dosing - At least 3 days for hospital admission and health checks and to receive the study gene therapy and medicines to try to prevent some gene therapy side effects. The investigational gene therapy in this trial will be given by a single infusion into a vein (intravenous infusion). This dose cannot be undone or reversed.
    • Trial Outpatient Observation - 52 weeks (1 year) to monitor your child’s health. There will be about 28 check-ins over the 1-year Observation Period. Some visits will take place at the study clinic and some will take place at your home or by phone.

    There will be a separate long-term follow-up study after the interventional clinical trial to monitor your child for a minimum of 5 years.

    Timer icon
    Length of study treatment
    1 Day (1 dose)
    Coin icon
    Number of study visits
    About 34 on-site, remote, or a combination plus about 74 visits in the home

    Trial purpose

    X-linked Myotubular Myopathy (XLMTM) is caused by a change in the DNA sequence of a gene called MTM1. The MTM1 gene tells the body how to make a protein called myotubularin, which is essential for the healthy growth, development, and function of muscle cells.

    Doctors and scientists (researchers) are looking for ways to potentially treat XLMTM with a gene therapy. The aim of gene therapy is to try to fix a faulty gene, or replace it with a healthy copy, to help treat or improve the disease, but it may not always work. ASP2957 is an investigational gene therapy that expresses myotubularin via a muscle-specific promoter.

    Deciding whether to take part in this trial is an important decision that requires careful consideration. It is not only about whether your child qualifies for the trial, but also whether this is the right choice for your child and your family.

    Please consider this alongside all available management options that you have talked through with your healthcare team. We encourage you to discuss this opportunity with your child’s doctor, who can provide valuable insights and help you think through the options.

    Get more information

    Would you like more information about clinical trial sites that are recruiting participants for Study of ASP2957 in male patients with X-linked Myotubular Myopathy who need ventilators? Contact us by filling out your information to the right and we’ll respond to you.

    • A patient
    • A caregiver
    • A parent
    • A healthcare provider
    • A patient advocate
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    • United Kingdom
    • United States
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    By clicking ["Continue/Submit"], you agree that Astellas may contact you by email with information to help you connect with clinical trial sites. While we can connect you to clinical trial sites, we cannot answer questions about any investigational therapy through email. Your consent to receiving emails is not a requirement to participate in a clinical trial or study. For more information, including how to unsubscribe at any time, see our Privacy Notice & Cookies Policy.

      Locations

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      Trial info
      Age
      N/A - 3 Years
      Condition
    • X-Linked Myotubular Myopathy
      • Sex
      Male
      Trial Dates
      Jul 2025 - Aug 2027
      Additional Study Details
      Inclusion Criteria
      • Participant is projected to be ≤ 3 years of age at dosing.
      • Participant has molecular genetic report from a CAP-approved testing facility at screening that confirms a diagnosis of XLMTM and harbors a “pathogenic” or “likely pathogenic” variant in the MTM1 gene as classified using the American College of Medical Genetics (ACMG) standards and guidelines for interpretation of sequence variants. Although samples will be sent to the sponsor central laboratory during screening for exploratory testing, results of this testing are not required for enrollment.
      • Participant is ventilator-dependent and meets the following criteria:
        • Required respiratory support at birth
        • Requires ≥ 20 hours per day of invasive ventilator support (confirmed during screening)
        • Has a tracheostomy tube
      • Participant has no evidence of hepatic peliosis, increased echogenicity or any other clinically important abnormal finding on liver ultrasound.
      • Participant can receive immunosuppression per protocol.
      • Participant’s hepatobiliary laboratory measurements must meet the criteria during screening and for the 2-month retrospective assessment of participant’s medical history:
      • Participant’s hematological laboratory measurements must meet the criteria during screening:
      • Participant’s parent(s) or legally authorized representative LAR(s) must provide documentation of being current with recommended immunization schedule according to regional guidelines.
        • If any immunization has not been administered, the medical reasons must be documented by the investigator along with medical risk associated with ASP2957 and immunosuppression administration. The sponsor will review the risk assessment with the investigator and determine the participant’s eligibility for the study.
        • Immunizations requiring administration after inclusion in the study must be administered in accordance with regional guidelines for live, live attenuated and inactivated immunization prior to, during and after stopping immunosuppression with methylprednisolone, prednisolone and sirolimus. For an example of guidelines, see Centers for Disease Control and Prevention (CDC) General Best Practices Guidelines for Immunization.
        • Immunization of household contacts can be considered based on regional standards of care of individuals receiving immunosuppression regimens.
      • Participant and participant’s parent(s) or LAR(s) are willing and able to comply with study visits and study procedures.
      • Participant’s parent(s) or LAR(s) agree that the participant will not participate in another interventional study from the time of signing the Informed Consent Form (ICF) through week 52.
      • Participant’s parent(s) or LAR(s) is willing to transition the participant to a separate long-term follow-up study after study completion.
      Exclusion Criteria
      • Participant born < 35 weeks gestation is still not term as per corrected age.
      • Participant is nutritionally unstable with weight less than fifth percentile for age or has a vitamin A, E or K deficiency.
      • Participant requires supplemental oxygen to maintain appropriate oxygenation.
      • Participant currently has a clinically important respiratory infection or other clinically important active infection of any kind.
      • Participant has an active viral or bacterial infection including, but not limited to, positive testing for:
        • tuberculosis (TB) using the QuantiFERON-TB test
        • Active hepatitis A virus (HAV), hepatitis B virus (HBV) or hepatitis C virus (HCV)
        • Prior HBV or HCV virus infection due to the risk of reactivation associated with immunosuppression
        • human immunodeficiency virus type 1 (HIV-1) and human immunodeficiency virus type 2 (HIV-2)
        • coronavirus disease 2019 (COVID-19)
      • Participant has any history of cholestatic liver dysfunction and/or treatment for cholestasis. If the participant is taking prophylactic treatment for cholestasis (e.g., ursodiol, cholestyramine, rifampin or other therapies) which has not been prescribed for cholestatic liver dysfunction, treatment must be discontinued for at least 4 weeks prior to signing the ICF.
        • Neonatal hyperbilirubinemia resolving within 4 weeks of birth in a full-term infant is not an exclusion.
      • Participant has prior history of abnormal transaminases (alanine aminotransferase (ALT) or aspartate aminotransferase (AST)) and/or abnormal bilirubin metabolism associated with ascites, jaundice (aside from neonatal hyperbilirubinemia) or gastrointestinal bleeding.
      • Participant has a significant medical condition or life-threatening disease other than XLMTM that would interfere with adhering to protocol requirements or would increase the risk of immunosuppression and/or recombinant adeno-associated virus (rAAV) administration.
      • Participant has musculoskeletal complications such as severe contractures and/or scoliosis that would limit the ability to observe improvements in neuromuscular function.
        • In participants with scoliosis, the Cobb angle must be < 40 degrees for study eligibility.
      • Other than as required per protocol, participant has received or plans to receive systemic immunomodulating agents within 90 days before day 1 (use of inhaled corticosteroids to manage chronic respiratory conditions is allowed).
      • Participant has previously received monoclonal antibodies of any type.
      • Participant plans to have surgery within 12 weeks prior to day 1 through week 52 that may confound safety and efficacy data interpretation of the study intervention.
        • Exception: Standard of care surgical interventions such as gastrostomy, jejunostomy and Nissen fundoplication procedures are allowed.
      • Participant received any treatment for cholestasis (e.g., ursodiol, cholestyramine, rifampin or other therapies) prior to signing the ICF.
      • Participant is participating in another interventional study or has received an adeno-associated virus (AAV)-based gene therapy.
      • Participant tests positive for anti-MyoAAV3.8 TAb, as determined by central laboratory testing.
        • Since very young children may have passive antibodies transferred in utero from the mother, participants ≤ 6 months of age who initially test positive for anti-MyoAAV3.8 total antibody (TAb) may be rescreened for study eligibility.
      • Participant has a known or suspected contraindication or hypersensitivity to methylprednisolone, prednisolone, sirolimus or any components of the ASP2957 formulation.
      • Participant has a contraindication to general anesthesia, magnetic resonance imaging (MRI) or muscle biopsy procedures.
      • Any other reason that would render the participant unsuitable for participation in the study, including risk of non-adherence to the study assessments and protocol.

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