For Healthcare Professionals

Gene Transfer Clinical Study in X-Linked Myotubular Myopathy

clipboard-pencil

About the study

This is a multinational, open-label, ascending-dose, delayed-treatment concurrent control clinical study to evaluate the safety and efficacy of AT132 in subjects with X-Linked Myotubular Myopathy aged less than 5 years old. Subjects will receive a single dose of AT132 and will be followed for safety and efficacy for 10 years
user-3

Who can take part

You may be eligible to participate in the study if you meet the following criteria:

INCLUSION CRITERIA

  1. Subject has a diagnosis of XLMTM resulting from a genetically confirmed mutation in the MTM1 gene as assessed by a Sponsor-approved testing facility.
  2. Subject is male.
  3. Subject is aged less than 5 years old at dosing
  4. Subject requires mechanical ventilatory support: Part 1: Subject requires some mechanical ventilatory support (e.g., ranging from 24 hours per day full time mechanical ventilation, to noninvasive support such as continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) during sleeping hours). Part 2: Subject requires invasive mechanical ventilatory support ranging from 20
  5. 24 hours per day at screening (confirmed by daytime polysomnographic study).
  6. Subject requiring invasive mechanical ventilator support is fitted with or willing to be fitted with a cuffed tracheostomy tube for some respiratory assessments.
  7. Subject has ventilator maximum positive end-expiratory pressure (PEEP) <8 cm H2O at screening. Key

EXCLUSION CRITERIA

  1. Subject is participating in an interventional study designed to treat XLMTM.
  2. Subject born <35 weeks gestation who is still not term as per corrected age.
  3. Subject tests positive for AAV8 neutralizing antibody with titers above protocol specified threshold.
  4. Subject had recent surgery (<3 months before Day 1) or has planned surgery that may confound data collection during the first 48 weeks of the study.
  5. Subject has a clinically important condition other than XLMTM in the opinion of the investigator.
  6. Subject has a clinically significant underlying liver disease.
  7. Subject is currently experiencing a clinically important respiratory infection or other active infection.
  8. Subject has received pyridostigmine or any medication to treat XLMTM within 3 months before Day 1.
  9. Other than as required per protocol, subject has received immune-modulating agents within 3 months before Day 1 (use of inhaled corticosteroids to manage chronic respiratory conditions is allowed); use of other concomitant medications to manage chronic conditions must have been stable for at least 4 weeks before dosing.
  10. Subject has a contraindication to prednisolone.
  11. Subject has a contraindication to study drug or ingredients.
  12. Subject has contractures, scoliosis, or other medical condition that would limit the potential to achieve unassisted sitting, in the opinion of the investigator (Part 2 including any subjects enrolled under protocol V8 and beyond).
  13. Subject is able to sit without assistance for at least 30 seconds at screening, in the opinion of the investigator (Part 2 including any subjects enrolled under protocol V8 and beyond).
pin location

Study Locations

Enter your ZIP code/Postal code/PIN code to locate study sites near you:

How to Apply


Contact the study center to learn if this study is a good match for you.
Phone iconCall +1 415 805 1049Email iconEmail Study Center

Study’s details


Contition

X-Linked Myotubular Myopathy

Age (in years)

0 - 5

Phase

Phase 1/Phase 2

Participants needed

26

Est. Completion Date

Oct 2030

Treatment type

Interventional


Sponsor

Astellas Pharma Inc

ClinicalTrials.gov identifier

NCT03199469

Study number

ATX-MTM-002

Understanding Clinical Trials


Get answers to your questions about clinical trials.What is a clinical research?What does taking part in clinical trials involve?What should I ask the trial doctor?
Vector

Interested?

Sign up to save your favorites, 
receive newsletters, resources, and alerts 
about clinical trials related to your conditions of interest.