Glossary
European Medicines Agency ( EMA) Gene Idiopathic Parkinson’s disease
A decentralized agency of the European
Union (EU) responsible for the scientific
evaluation, supervision, safety and
monitoring of medicines in the EU. The material of heredity, passed down
through the generations from parents
to children. These inherited bits of DNA
determine many of the body’s traits —
visible features such as eye color, as well
as ones that can’t be seen, including an
individual’s risk of a particular disease. The most common form of Parkinson’s,
accounting for upwards of 90 percent of
cases. Idiopathic, or sporadic, Parkinson’s
typically does not run in families and is
likely caused by a combination of genetic
and environmental factors.
Genetic counselor Inclusion criteria
Exclusion criteria
Factors that prevent a person from
participating in a specific clinical
trial or study.
Familial Parkinson’s disease
A type of Parkinson’s that runs in families
and is thought to have a primarily genetic
cause. Familial Parkinson’s disease
accounts for less than 10 percent of PD
cases worldwide.
See also: idiopathic Parkinson’s disease
Gaucher disease
A rare condition that causes fatty
substances to build up and organs to
swell. This disease develops in people
who carry two copies of the mutated
GBA gene. People with this mutation do
not produce enough glucocerebrosidase,
an enzyme that breaks down a fatty
chemical called glucocerebroside.
A health professional with expertise
in medical genetics and counseling
who provides education and emotional
support to people considering or
undergoing genetic testing.
Genetic mutation
A permanent change in the sequence
of a gene that can affect health or risk
of disease.
Genetic testing
A type of medical test that identifies
changes in genetic material. Genetic
tests can evaluate a suspected genetic
condition to help determine a person’s
chance of developing or passing on a
genetic disorder.
See also: GBA Hoehn and Yahr ( H&Y) s cale
GBA The Hoehn and Yahr (H&Y) scale
divides Parkinson’s into stages based
on the severity of motor symptoms.
Clinical trials often include H&Y stages
as part of their eligibility criteria so that
they can ensure that the intervention
evaluated will include people with the
right symptoms.
The GBA gene directs the production
of the glucocerebrosidase protein,
which breaks down substances called
glycolipids. Mutations in the GBA gene
are the most common genetic risk factor
associated with Parkinson’s, and GBA
mutations may lead to build-up of alpha-
synuclein protein clumps.
See also: alpha-synuclein
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Navigating Clinical Trials: A Guide for Parkinson’s Patients and Families
See also: familial Parkinson’s disease
Factors that need to be met to qualify a
person to participate in a clinical trial
or study.
Informed consent
A process used to educate potential
participants about the possible benefits
and risks of a specific clinical trial
or study. Prior to enrolling, all study
participants must sign an informed
consent document that explains the
details of the trial or study and the rights
and responsibilities of the participant.
Institutional Review Board ( IRB)
An independent committee of scientists,
doctors and others (usually at least one
“non-scientific” person who represents
the patient voice) that evaluates and
approves each study’s protocol and
informed consent document, and
monitors ongoing study activities. The
Institutional Review Board (IRB) is in
place to protect the rights and welfare of
people participating in a study.