Fall/Winter 2006 - University of Rochester Medical Center

Huntington’s study examines early stages and decisions
By Tom Rickey
Doctors have completed the first step of a
unique medical research study, evaluating
1,001 individuals at risk of developing
Huntington’s disease who do not know - nor
do they want to know - whether they carry
the genetic defect that causes the condition.
An international team led by neurologist
Ira Shoulson, M.D., professor of
neurology, is trying to identify the earliest
signs of the onset of the disease. The information
will help clinicians design better
studies of new drugs aimed at alleviating or
postponing illness. It also helps researchers
understand how patients evaluate potentially
life-changing knowledge now available to
them through means such as genetic testing.
Shoulson and colleagues from the
Huntington Study Group reported their
progress on the study known as PHAROS,
or Prospective Huntington At Risk
Observational Study, in the July issue of
Archives of Neurology.
While the gene that causes the
disease is known and can be identified
through a blood test, fewer than one in 10
adults at risk for developing the disease have
chosen to be tested. People at risk but who
have not taken the test have a 50/50 chance
of developing Huntington’s. This at-risk group
offers physicians a unique opportunity to
witness the earliest signs of the disease,
before anyone knows whether a person actually
has the gene for Huntington’s or not.
In the PHAROS study, one of the largest
Huntington’s studies ever undertaken, 1,001
healthy people between the ages of 26 to 55
who had at least one parent with the disease
have stepped forward to participate. Patients,
doctors and nurses from 43 hospitals and
medical centers
around North America,
including Rochester,
are taking part.
At enrollment
in PHAROS, participants
provide a blood
sample for an analysis
that will show
whether they harbor
the Huntington’s gene,
Ira Shoulson, M.D. though neither they,
the researchers, nor
their physicians will
ever be told the
results of the individual tests. Participants are
being evaluated once every nine months for
anywhere from four to 10 years.
Huntington’s is an inherited disorder
that affects about 30,000 people in North
America; another 150,000 people or so may
have the gene that causes the disease. The
defective gene, a sort of genetic stutter, leads
to the destruction of brain cells, causing
involuntary movements, cognitive problems,
and often psychological problems like depression
and paranoia. The disease usually strikes
in young to mid adulthood, in a patient’s 30s
or 40s.
The study is relevant for many physicians
and patients who have increasing
access to information about the specific
genetic causes of many diseases, even for
conditions like Huntington’s, for which there
is no cure or approved treatment.
“The experience from PHAROS also
informs us how persons at high risk to
develop a disabling genetic disease deal with
lingering uncertainties about their future
health and complex choices about their
participation in research,” said Shoulson, part
of a Rochester team that treats Huntington’s
patients from more than 200 families.
The Huntington Study Group is a nonprofit,
cooperative group of Huntington’s
disease experts from medical centers
throughout North America, Europe and
Australia who are dedicated to improving
treatment for persons affected by the
disease. The group is based at the University
of Rochester Medical Center. More information
is available at
www.Huntington-Study-Group.org.
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