2021 HARRINGTON UK RARE DISEASE SCHOLAR
PIETRO FRATTA, MD, PhD MRC Senior Clinical Fellow University College London
A MUSCLE-BOUND THERAPY
TO STOP A RARE DISEASE FOCUS: A muscle-targeted gene therapy for Kennedy’s disease, a rare neuromuscular disease. Kennedy’s disease (KD), or Spinal
A genetic disease, KD is caused by an
Dr. Fratta says. “Thus, benefits would
Bulbar Muscular Atrophy, is a rare,
abnormal expansion of DNA in the
be provided to the neuromuscular
slowly progressing adult onset
androgen receptor gene (AR) found on
symptoms while avoiding the threat of
neuromuscular disorder characterized
the X chromosome. Studies have shown
side-effects. This method would require
by the degeneration of neurons within the
that silencing the androgen receptor
just one dosage, which is a godsend for
spinal cord and brainstem, accompanied
gene in muscles is able to fully rescue
such a long-term condition.”
by atrophy of skeletal muscle. Only males
the disease. However, this approach may
are affected, developing progressive
reduce AR in other tissues and organs,
As Dr. Fratta’s lab is among the largest
weakness and wasting of muscles in
inducing significant side effects.
KD clinics in the world, they are also
arms and legs, as well as in the facial
working on providing biomarkers and
region, resulting in difficulty with
“We are developing a virally-delivered
outcome measures that will allow for more
swallowing and speech. There are
gene therapy approach where the AR
effective clinical trials with this disease.
currently no effective treatments.
gene is silenced only in muscles,”
“Our Harrington team is brilliant—and so involved, following the project step by step.”
harringtondiscovery.org
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