US-based biotechnology firm Audentes Therapeutics has commenced patient dosing in the Phase I/II ASPIRO clinical trial of its product candidate AT132 to treat X-linked myotubular myopathy (XLMTM).
AT132 contains an AAV8 vector with a functional copy of the MTM1 gene, while XLMTM is a rare monogenic disease caused by MTM1 gene mutations leading to muscle weakness, respiratory failure and early death.
The multi-centre, multi-national, open-label, ascending dose Phase I/II trial will investigate the safety and preliminary efficacy of AT132 in around 12 patients aged less than five years.
ASPIRO is designed to include nine subjects treated with AT132 and three delayed treatment concurrent control subjects.
Audentes Therapeutics senior vice-president and chief medical officer Suyash Prasad said: "Over 50% of the boys affected by XLMTM do not live to celebrate their second birthday, and no currently approved treatment options exist for these patients, their families and caregivers.
“We look forward to working together with our partners to advance AT132 as a potentially transformative therapy to treat this devastating disease."
The trial’s primary endpoints are safety and efficacy, while the secondary endpoints include disease burden, health related quality of life, muscle tissue histology and biomarkers.
A primary efficacy assessment is scheduled to be conducted at 12 months, after which patients are expected to undergo a follow-up for additional four years for the evaluation of long-term safety, effect durability and developmental progression.
It is estimated that preliminary results from the trial will be reported in the fourth quarter of this year.