Gene Transfer Clinical Study in X-Linked Myotubular Myopathy (ASPIRO)
SPIRO: 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
Clinical centers in FL, IL, MD, and CA are conducting a study of a gene therapy to correct X-linked Myotubular Myopathy (XLMTM). Mutations in the MTM1 gene cause X-linked myotubular myopathy. The MTM1 gene provides instructions for producing an enzyme called myotubularin, involved in the development and maintenance of muscle cells. This new treatment utilizes a harmless virus to deliver a functional copy of the human MTM1 (hMTM1) gene. The virus works to transfer the gene into the patient’s DNA and cannot cause infection.
Participants will be given 1 of 3 levels of dosage of the investigatory drug via IV, then have follow up through 48 weeks up to 5 years.
- Be male and up to 5 years of age
- Has a diagnosis of XLMTM resulting from a genetically confirmed mutation in the MTM1 gene
- Requires some mechanical ventilator support
- Not have received pyridostigmine or any medication to treat XLMTM within 3 months before Day 1 of the study.
THE STUDY INVOLVES:
- Screening before the treatment
- A single infusion of the gene therapy drug will be administered
- Monitoring of the patient for a few hours after dosing, with lab assessments required frequently from the first to the 48th week and less frequently up to 5 years longer.
LOCATIONS AND CONTACTS:
The study will take place at UCLA Medical Center in Los Angeles, CA (Map), Ann & Robert H Lurie Children’s Hospital of Chicago (Map), and The National Institute of Neurological Disorders and Stroke/NIH Porter in Bethesda, MD (Map).
Contact: Kim Trant, Dir of Pt Advocacy | +1 415 805 1049 | [email protected]
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