Myotubular Myopathy

ASPIRO: A Phase 1/2, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Preliminary Efficacy of AT132, an AAV8-Delivered Gene Therapy in X-Linked Myotubular Myopathy (XLMTM) Patients

About: This study will evaluate safety and preliminary efficacy of gene transfer in X-Linked Myotubular Myopathy. Subjects will receive a single dose of AT132 delivered intravenously. A maximum of 3 dose levels of AT132 are planned for evaluation in this study. Four subjects will be enrolled at each dose level, including 1 subject at each dose level randomized to control with delayed administration of the investigational medicinal product. Dose escalation to the next dose level will be considered after evaluation of at least 4 weeks of data from all subjects dosed at the current dose level. One of the dose levels will be chosen for dose expansion, and the chosen dose will be administered to all delayed-treatment control subjects.

The primary efficacy endpoint measures will be assessed at Week 48. Subjects will be followed for a total of 5 years after administration of AT132.

This study will utilize an independent Data Monitoring Committee (DMC) that will monitor subject safety and provide recommendations to Audentes regarding dose escalation, dose expansion, and safety matters.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

Ages Eligible for Study:    up to 5 Years   (Child)
Sexes Eligible for Study:    Male

Status: This study is ongoing but not actively recruiting participants.

If you are interested in participating please contact:

Cristina Liberati
Clinical Study Coordinator

 

Respiratory Muscle Function in Untreated X-Linked Mytotubular Myopathy (XLMTM)

This year-long study looks at the respiratory function of boys aged fourteen and younger with X-Linked Myotubular Myopathy.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

Ages Eligible for Study: up to 14 Years   (Child)
Sexes Eligible for Study:    Male

Status: Actively Recruiting Participants

If you are interested in participating please contact:

Jessica Ehrbar
Clinical Study Coordinator

 

INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger

About: This is a pre-Phase 1 prospective, non-interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger. The goal of this study is to better understand XLMTM and the natural history of the disease in young children with XLMTM, with a focus on respiratory and neuromuscular function. In this study, subjects will not receive investigational drugs. Study participation requires visits to a study site every three months for a series of assessments, including respiratory and neuromuscular function tests, blood sampling for general health and immunological tests, physical exams, vital signs, height/weight measurements, liver ultrasound, cardiac assessments (ECG, ECHO), x-rays (of the wrist), vocalization/swallowing tests, and questionnaires.

Ages Eligible for Study:    up to 14 Years   (Child)
Sexes Eligible for Study:    Male

Status: This study is ongoing but not actively recruiting participants.

For more information about this study, including eligibility criteria, please go to the study’s ClinicalTrials.gov page.

If you are interested in participating please contact:

Jessica Ehrbar
Clinical Study Coordinator