Highlights from the TSGT Progress Update – February 2012

The Tay Sachs Gene Therapy Consortium continues to make many hopeful
and successful progress, but “TIME” is of essence for our kids. Here
are highlights of the progress update as of February 2012. The full
report is available through www.tsgtconsortium.com/reports or
, but to spare you with medical jargon, here are the
highlights. Please continue to pray for Gavin and that clinical trials
will start as planned in the year 2012.

Tay Sachs Gene Therapy Consortium Update:

Treated GM2 cats lived an average of 16.7 months, or 3.7 times longer
than untreated GM2 cats, which die at about 4.5 months of age.
Remarkably, two AAV-treated GM2 cats are still alive at 24 and 20.7
months of age, an outcome that surpasses our initial expectations.

In year 1 of the research project, two Tay-Sachs sheep were treated
with gene therapy, and they lived almost twice as long as untreated
sheep. Now, in Year 2 of the project, 10 Tay-Sachs sheep were treated
with gene therapy and 2 remain as untreated controls to see if year 1
results can be reproduced.

A new good manufacturing practice (GMP) facility has been identified
to make vectors at a lower cost than originally estimated. We
initiated a 4-month pilot program to validate the new facility’s
ability to produce AAV vectors.

We have received approvals for upcoming safety studies in monkeys and
the animals are scheduled to arrive within the week.

Natural history study: Recently we collected retrospective data on 10
juvenile patients to understand disease progression that led to the
development of a new clinical severity scoring systems for these
patients. Based on these studies we initiated a prospective study with
6 infantile and 5 juvenile patients.

A February meeting of physicians, regulatory consultants, and
scientists was held in Boston to discuss the design of the first human
clinical trial of AAV gene therapy for Tay-Sachs disease.

Numerous regulatory steps must be met before the clinical trial can
begin, such as filing an investigational new drug (IND) application
with the FDA and receiving approval from the institutional review
board (IRB) at the Massachusetts General Hospital where we are
planning to conduct the clinical trial.

The next step for our program is to conduct a pre-IND meeting with the
FDA scheduled for the beginning of March 2012. According to FDA
guidelines, the chief goal of the first clinical trial for any disease
is to demonstrate safety of the potential therapy, though efficacy may
also be evaluated for rare diseases.

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