Research
“ Participating
in studies
gives a sense
of power.”
Sue Lifschiz of Santa Rosa,
California was diagnosed with
Parkinson’s disease (PD) in 2002
at age 65. While her uncle also
had the disease, it wasn’t until
one of her daughters began
experiencing symptoms that
Sue made the decision to
undergo genetic testing.
Sue Lifschiz (center) and her daughters Jill (left) and
Jan have all been diagnosed with Parkinson’s disease
and genetically tested for the LRRK2 mutation.
collection. The tests are typically conducted
every few months. “It’s not a big burden,”
Sue says.
The test showed she carries the LRRK2
mutation, which is the greatest known genetic
contributor to Parkinson’s disease. (Even so,
it accounts for only one to two percent of all
PD cases.) The study is currently recruiting participants
with and without PD who carry the LRRK2 or
GBA mutation. People of Ashkenazi Jewish
descent (like Sue) who have a first-degree
relative with Parkinson’s are more likely to
carry these mutations. Since not all those who
carry a mutation develop symptoms, Sue
plans on talking to her synagogue about how
they can contribute. “I realized how difficult it
is to find people who have the mutation but
who don’t have the disease, and that’s the
group that [researchers] really need,” she said.
Sue joined the Parkinson’s Progression
Markers Initiative (PPMI), The Michael J. Fox
Foundation’s landmark observational study
to find a biomarker — an objective measure
of the disease — for earlier diagnosis, better
disease tracking and more efficient testing of
new therapies. PPMI also aims to learn more
about genetic risk factors for PD, specifically
in people with mutations in the LRRK2, GBA
and SNCA genes. Sue also is part of Fox Trial Finder, the
Foundation's online clinical trial matching
tool, and has participated in other studies
aimed at understanding the genetics of
Parkinson’s. “I think one of the real problems
of PD is feeling powerless and like there’s
nothing you can do,” she said. “Finding out as
much about the disease and participating in
these studies really gives one a sense of power
over what’s happening to you.”
To better understand biologic changes over
time, qualifying volunteers participate for
several years, undergoing regular clinical
assessments, imaging tests and biospecimen Visit michaeljfox.org/clinicaltrials to learn
more about the importance of clinical trial
participation and how to get involved.
“It seemed like an easy thing to do,” Sue
said. “I had children and grandchildren, and I
wanted to know if I had any genetic mutations
I might be passing onto them.”
7
Spring/Summer 2017