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Gene Therapy

Gene Therapy (AT132) for Myotubular Myopathy (ASPIRO Trial)

Phase 2 & 3

Waitlist Available

Research Sponsored by Astellas Gene Therapies

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Subject is male

Subject requiring invasive mechanical ventilator support is fitted with or willing to be fitted with a cuffed tracheostomy tube for some respiratory assessments

Must not have

Subject has a clinically significant underlying liver disease

Subject has previous scoliosis repair surgery/procedure, or planned/expected scoliosis repair surgery/procedure in the 12 months following Day 1

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline up to 5 years

Awards & highlights

No Placebo-Only Group

Summary

This trial tests AT132, a gene therapy, in children under 5 with a rare muscle disease. The therapy aims to deliver a healthy gene to improve muscle function. Participants will receive one dose and be monitored for safety and effectiveness over several years. AT132 has been used in previous gene therapy trials for muscle diseases.

Who is the study for?

This trial is for boys under 5 with X-Linked Myotubular Myopathy (XLMTM) confirmed by a specific gene mutation. They must need breathing support, weigh over 4.8 kg in France, and have no recent surgeries or infections. Those with heart issues, anemia, liver disease, or certain medication use are excluded.

What is being tested?

The study tests AT132's safety and effectiveness in treating XLMTM. Participants receive one dose of AT132 and are monitored for ten years. It's multinational with ascending doses compared to delayed treatment controls.

What are the potential side effects?

Potential side effects aren't specified but may include reactions related to gene therapy such as immune responses, site inflammation, or complications from the delivery method used.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I am male.

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I am using or open to using a cuffed tracheostomy tube for breathing assessments.

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I have XLMTM due to a confirmed MTM1 gene mutation.

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I need a machine to help me breathe.

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I am under 5 years old.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I have a serious liver condition.

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I have had or will have scoliosis surgery within a year.

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I was born before 35 weeks of pregnancy and am not yet at my due date based on corrected age.

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I have taken medication for XLMTM, like pyridostigmine, within the last 3 months.

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I have anemia with a hemoglobin level below 10 g/dL.

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I am allergic or cannot take the study drug due to health reasons.

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I currently have a serious lung infection or another active infection.

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I cannot take ursodiol due to health reasons.

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I cannot take prednisolone due to health reasons.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline up to 5 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline up to 5 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline up to 5 years for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Change From Baseline in Hours of Ventilation Support at Week 24

Secondary study objectives

Change From Baseline in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Total Score at Week 24

Change From Baseline in Maximal Inspiratory Pressure (MIP) at Week 24

Change From Baseline in Pediatric Quality of Life Inventory (PedsQL) Assessment Total Score at Week 24

+8 more

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

2Treatment groups

Experimental Treatment

Group I: 3.5 × 10^14 vg/kg (High dose)Experimental Treatment1 Intervention

Participants received 3.5 × 10\^14 vg/kg of body weight resamirigene bilparvovec as a single dose intravenously on Day 1. A sentinel dose was given to first participant and if there were no safety concerns, subsequent participants received either resamirigene bilparvovec at the same dose or control with delayed treatment after at least 4 weeks of post-dose data from the sentinel participant.

Group II: 1.3 × 10^14 vg/kg (Low dose)Experimental Treatment1 Intervention

Participants received 1.3 x 10\^14 viral genomes per kilogram (vg/kg) of body weight resamirigene bilparvovec as a single dose intravenously on Day 1. A sentinel dose was given to first participant and if there were no safety concerns, subsequent participants received either resamirigene bilparvovec at the same dose or control with delayed treatment after at least 4 weeks of post-dose data from the sentinel participant.

0 / 14Eligibility criteria met