"In June I had the privilege of attending a one-day summit focused specifically on trial design for disease modification organised by The Michael J. Fox Foundation for Parkinson’s Research in New York. The meeting convened key stakeholders from bio-pharma, academia, regulatory agencies and research funding organisations to identify the steps needed to ensure the success of clinical trials of potentially disease modifying drugs in the future.

One of the key discussion points was around the urgent need to identify people at the earliest stage who are living with a genetic form of the disease. 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.

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’s 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 genetic cohorts if we are to move forward more treatments of this nature into trials."

Here in the UK there are a number of efforts underway to collect genetic data all of which are seeking participants:

Rapsodi Study – Rapsodi is an internet based cohort study (www.rapsodistudy.com). 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 a high risk of developing Parkinson disease. Around 10% of these GBA mutation carriers will develop Parkinson disease by age 80. One arm of its recruitment strategy is large scale screening of Parkinson disease cases for the GBA gene, as 5% of these will carry a GBA gene mutation. The other arm is by 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: www.rapsodistudy.com 

100,000 Genomes Project – which closes on 30th September 2018 – and is seeking those with early onset Parkinson’s or atypical Parkinson's (onset 45 years of age or under or history of Parkinson’s Disease in the family), if you are based in the UK and would like to contribute your genetic data to this pivotal government funded study we can direct you to the investigators who can provide postal consent forms.  Participation involves providing a blood sample via your GP or local consultant. To take part contact: [email protected].

The Families Study -  We are looking for anyone who developed Parkinson’s before the age of 45 or who has Parkinson’s and other family members have or have had Parkinson’s This study will be open for the next 10 years. To take part, please visit: http://www.parkinsonsfamiliesprojects.com/

Helen Matthews, Deputy CEO, The Cure Parkinson's Trust