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X-Linked Myotubular Myopathy - Healing Genes
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X-Linked Myotubular Myopathy

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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


Phase 1/2

DESCRIPTION:

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.


PATIENT MUST:

  • 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:

  1. Screening before the treatment
  2. A single infusion of the gene therapy drug will be administered
  3. 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]

 

SPONSOR INFORMATION:

Audentes Therapeutics

 

Or go online:

https://clinicaltrials.gov/ct2/show/NCT03199469

 

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