Parkinson's Disease Clinical Trial
Official title:
Parkinson's Families Project
One person in every 500 has Parkinson's and around 127,000 people are living with the
condition in the UK. The aim of the study is to identify new genes that predispose or cause
Parkinson's Disease or Parkinsonism. There is a pressing need to study the genetic makeup of
family members both with and without Parkinson's. As families share a common genetic
background, it is easier to find new Parkinson's genes by studying the genetic makeup of
people with Parkinson's alongside other members of their families. We are particularly
interested in studying the genetic makeup of two groups of people:
1. those who developed Parkinson's before the age of 45Íž and
2. those who have a family history of other relatives affected by Parkinson's.
By identifying genetic factors that cause Parkinson's, we hope to understand more about the
condition. Doing so will lead to the development of better diagnosis, improved disease
models, and we hope in time, to the development of better treatment.
One person in every 500 has Parkinson's and around 127,000 people are living with the
condition in the UK. Unfortunately, it is a progressive disease that has no cure. Many
treatments are available that can improve or maintain someone's quality of life, but the
investigators would like to develop treatments that can be used much earlier in the disease
process. These could slow down the disease or prevent it from progressing further.
For most people who develop Parkinson's there is no clear underlying cause. However, the
investigators are particularly interested in the minority of people diagnosed with
Parkinson's who have either early onset disease and/or other relatives affected with
Parkinson's. The investigators believe that variations in inherited material (genes) can
sometimes cause the disease, and this may run in families. This opens the door to a range of
studies on the effects of gene variation at a nerve cell and brain level, which the
investigators hope will lead to new targeted treatments.
It is already known that some rare gene variants can cause Parkinson's. Some of these are
inherited in what is called an 'autosomal dominant' way i.e. each child of a person with this
type of gene change has a 50% chance of inheriting it. However, it is also known that not
everyone who carries the change will go on to develop the disease. Some people appear to be
protected against developing the disease and the investigators would like to understand this
better. Other variants, particularly important in early onset Parkinson's are "recessive",
and in this form of inheritance there is a very low risk to parents and children.
The investigators are looking closely at the genetic makeup of people with Parkinson's in
comparison with unaffected people and in comparison to unaffected and affected family members
in order to find out more about which gene changes can cause Parkinson's.
Following the identification of genetic variation that causes Parkinson's, in collaboration
with the NHS and other researchers, the investigators plan to: 1) develop new NHS tests of
Parkinson's and 2) develop new disease model which can act as a testbed for new treatments
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