Rapsodi is an internet based cohort study. It assesses those with mutations in the GBA gene for the earliest signs of Parkinson’s disease. Its eventual aim is to provide a platform for targeting neuroprotective medication to those who are developing or at a high risk of developing Parkinson’s disease. Around 10% of these GBA mutation carriers will develop Parkinson’s disease by age 80.

One arm of its recruitment strategy is large scale screening of Parkinson’s disease cases for the GBA gene, as 5% of these will carry a GBA gene mutation. The other arm is enrolling known cases of Gaucher disease. Family members of these index cases are then tested and asked to participate in the study. Genetic testing is completely remote. The test is initiated online and the DNA is collected with a saliva sample which is posted by the participant. Genetic counselling is substantially done over the phone. To take part visit the Rapsodi Study website.

Only around 5% of people living with Parkinson’s have a strong genetic contribution to the development of the condition. One of the challenges we face in Parkinson’s research is the lack of a precise way of measuring the effect of treatments (biomarkers) – by working with genetic types of the disease we have a chance to make our research questions very precise and generate very precise answers, which can then be applied to the whole Parkinson’s population. Helen Matthews, Deputy CEO of CPT said:

"In the next few years there will be a number of trials of different drugs each designed to specifically target these different genetic forms, particularly the GBA gene which is causative of Gaucher Disease and a risk factor for Parkinson’s, but also those with LRRK2, and other even rarer genes. 

To date, through its International Linked Clinical Trials Programme, CPT has been supporting two trials of potential treatments with different groups of people with genetic forms of Parkinson’s.  Although we do not have the results of these trials yet, we do know that we urgently need to carry out the groundwork to identify these cohorts of people with genetic variants if we are to move forward more treatments of this nature into trials, and therefore develop more personalised medicine approaches in the future."