AT132 for X-Linked Myotubular Myopathy

Phase-Based Progress Estimates
X-Linked Myotubular Myopathy+2 More
AT132 - Genetic
< 18
What conditions do you have?

Study Summary

This trial will test a new drug, AT132, for safety and effectiveness in treating X-Linked Myotubular Myopathy, in children aged 5 and under. The trial will last 10 years.

Eligible Conditions
  • X-Linked Myotubular Myopathy

Treatment Effectiveness

Effectiveness Progress

1 of 3

Similar Trials

Study Objectives

2 Primary · 5 Secondary · Reporting Duration: Baseline to Week 24

Baseline through Week 24
Treatment-emergent adverse events (safety and tolerability)
Baseline to Week 24
Change from baseline in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) by Week 24
Change from baseline in hours of ventilation support over time through Week 24
Change from baseline in maximal inspiratory pressure (PImax) by Week 24
Change from baseline in quantitative analysis of myotubularin expression in the muscle biopsy at Week 24
Percentage of subjects achieving functionally independent sitting for at least 30 seconds by Week 24 as assessed by an independent blinded Physical Therapy Adjudication Panel
Time to reduction in required ventilator support to ≤ 16 hours a day (only in subjects who require invasive ventilation) by Week 24 as assessed by independent blinded Pulmonary Adjudication Panel

Trial Safety

Safety Progress

1 of 3

Similar Trials

Trial Design

3 Treatment Groups

Delayed-Treatment Control
1 of 3
Higher Dose
1 of 3
Lower Dose
1 of 3

Active Control

Experimental Treatment

26 Total Participants · 3 Treatment Groups

Primary Treatment: AT132 · No Placebo Group · Phase 1 & 2

Higher Dose
Experimental Group · 1 Intervention: AT132 · Intervention Types: Genetic
Lower Dose
Experimental Group · 1 Intervention: AT132 · Intervention Types: Genetic
Delayed-Treatment ControlNoIntervention Group · 1 Intervention: Delayed-Treatment Control · Intervention Types:

Trial Logistics

Trial Timeline

Screening: ~3 weeks
Treatment: Varies
Reporting: baseline to week 24

Who is running the clinical trial?

Audentes TherapeuticsLead Sponsor
7 Previous Clinical Trials
247 Total Patients Enrolled
Astellas Gene TherapiesLead Sponsor
3 Previous Clinical Trials
207 Total Patients Enrolled
Weston Miller, MDStudy DirectorAudentes Therapeutics
2 Previous Clinical Trials
18 Total Patients Enrolled

Eligibility Criteria

Age < 18 · Male Participants · 8 Total Inclusion Criteria

Mark “Yes” if the following statements are true for you:
The subject has a ventilator that has a maximum positive end-expiratory pressure of less than 8 cm H2O at screening.
The subject requires mechanical ventilation support for approximately 20 to 24 hours per day
The subject needs a mechanical ventilator to help with their breathing and is willing to have a cuffed tracheostomy tube inserted to help with this
The subject needs some form of mechanical ventilation to help with breathing, either full-time or just during sleep.
The subject has a diagnosis of XLMTM, which is a genetic disorder that is caused by a mutation in the MTM1 gene
The subject is a male.
The subject is less than 5 years old when they are given the dose.

About The Reviewer

Michael Gill preview

Michael Gill - B. Sc.

First Published: October 13th, 2021

Last Reviewed: November 29th, 2022

Michael Gill holds a Bachelors of Science in Integrated Science and Mathematics from McMaster University. During his degree he devoted considerable time modeling the pharmacodynamics of promising drug candidates. Since then, he has leveraged this knowledge of the investigational new drug ecosystem to help his father navigate clinical trials for multiple myeloma, an experience which prompted him to co-found Power Life Sciences: a company that helps patients access randomized controlled trials.