A Singular Scientific Story: Duchenne’s Disease, a Family and the California Stem Cell Agency

By Dr. Matthew Watson

Unusual and personal conditions,
including a tie to the $3 billion California stem cell agency,
surround a promising scientific development reported today by a
husband and wife research team at UCLA.

Their research involves Duchenne
muscular dystrophy (DMD), an inherited disease that afflicts about
one in 3,600 boys and results in muscle degeneration and, eventually,
death.

Carrie Miceli
UCLA photo

The researchers, Stan Nelson and Carrie
Miceli, said they have discovered a promising FDA-approved drug that
could advance the fight against the affliction.

Miceli and Nelson have an 11-year-old
son, Dylan, with the disease. They have been studying the affliction
for some time, but their most recent and ambitious research plan was
rejected earlier this year by stem cell agency grant reviewers, a process that
normally kills an application. Undaunted, Miceli and Nelson appealed
to the full stem cell agency board last July. Backed by an emotional
presentation involving patient advocates, they won approval of a $6
million grant.

Adding to all this, their appeal used a
process known as an “extraordinary petition,” which the Institute
of Medicine (IOM) last week said should be abandoned because it undermines
the integrity of the CIRM grant review process.

Stan Nelson
UCLA photo

Even prior to the IOM recommendation,
the CIRM board was moving to restrict its free-wheeling
appeals procedures.

As for the $6 million CIRM grant, it will carry the important burden of advancing the findings that were published in the
journal Science Translational Medicine. However, the money was not used in the study reported today.

The research showed that dantrolene, the FDA-approved drug, “provides a powerful boost to
the (Duchenne) therapy currently being tested in clinical trials,”
according to a UCLA press release.

The news release said,

“(The researchers) hope this one-two
punch used in combination will overcome the genetic mutations that
cause DMD, restore a missing protein needed for proper muscle
function and allow those affected by the disease to lead relatively
normal lives.”
“Their youngest son, Dylan, 11, was
diagnosed with DMD in 2004. While he’s still ambulatory – many
DMD patients require the use of wheelchairs by about age 10 – Dylan
can no longer run or climb stairs and he can’t shoot a basketball
over his head like other boys his age. Despite these
challenges, Miceli said Dylan remains a happy, funny and engaged boy,
full of life and passion.
“'We entered into this field because
of the diagnosis of our son, but we hope our research can help many
others,' she said. 'There are drugs that can help manage the symptoms
of the disease, but nothing that changes its course dramatically.
We’re trying to correct the defect that causes DMD with highly
personalized genetic medicine.'”

UCLA said the grant from CIRM will be
used for “longer term studies of their drug combination therapy in
mouse models to ensure it can restore dystrophin levels to normal or
near normal levels. They also will explore whether DMD patients with
other mutations can benefit from the combination therapy.”

Asked for comment, Kevin McCormack, a
spokesman for the stem cell agency, said today's findings "are certainly
very encouraging." He continued,

"Clearly there is still a long way
to go before we know if this approach will work in people but we're
delighted that funding from the stem cell agency is helping the
researchers move their work forward....This is what voters set out to
do when they approved Proposition 71 to create the stem cell agency."

Source:
http://feedproxy.google.com/~r/blogspot/uqpFc/~3/aAacD9507GI/a-singular-scientific-story-duchennes.html