Live from the MTM Conference

Day 1

The meet and greet was fantastic. Families introduced themselves to each other and mingled with researchers and clinicians.

Day 2

The morning began with an introduction from Dr. Alan Beggs of Boston Children's Hospital.

Anna Buj Bello was next.  She is the head of a research team at Genethon in Paris, France.  She started with a brief overview of gene therapy.  

The production of vectors and studies concerning the safety of vectors was next.  A great amount of vector is required.  1000 billion for each patient is a lot of vector.

The results of the MTM mouse model with AAV showed a significant positive change when injected in a single mouse muscle.  The mouse would have died within weeks, but survived over a year following the administration of the therapy.

Dr. Martin Childers of the University of Washington expanded on the information presented by Anna Buj Bello.  Pilot studies in larger animals appear to have similar results to the mouse models.  This is exciting.  Improvements in muscle strength following an infusion injection are encouraging.  Ms. Goddard shared her work concerning pulmonary function.

Dr. Michael Lawlor presented information concerning enzyme therapy. He provided a brief overview of enzyme therapy and the mechanisms for delivery.  Positive results have been shown in early mouse models utilizing enzyme replacement therapy.

Deborah Ramsdell, CEO of Valerion Therapeutics, discussed the enzyme therapy drugs Valerion is working on.  She provided information concerning their current studies and their goals for advancing enzyme therapy through clinical trials.

Dr. Laurent Servais discussed his methods for developing tests to measure function and the importance of longitudinal study.