Study could pave the way for better Parkinson’s treatments
28 January 2022
Volunteers are being sought for a study led by the Royal Free London (RFL) which could pave the way for doctors predicting whether someone is likely to develop Parkinson’s disease – and finding new treatments.
The nationwide study aims to understand more about the link between Parkinson’s and a gene mutation which causes Gaucher’s disease.
People with Gaucher’s disease, which causes blood abnormalities and an enlarged liver and spleen, have a mutation in both copies of a particular gene called glucocerebrosidase (GBA).
If you have a mutation in one copy of the GBA gene it means that, while you don’t have the disease yourself, you are a carrier and could pass it on to your children.
Recent research has shown that people who have a GBA gene mutation have a slightly higher chance of developing Parkinson’s later in life, but this is still a low risk and most people do not develop Parkinson’s. The prevalence of the GBA gene mutation varies within different populations; however, it is most commonly found in the Ashkenazi Jewish community. This research opens up promising opportunities to develop new treatments for Parkinson’s disease and support ongoing development of interventions in Gaucher’s disease.
People with Gaucher’s disease – a genetic condition with a link to Parkinson’s – as well as their brothers, sisters, parents or children, along with people with Parkinson’s disease who carry the GBA gene mutation are being invited to participate in the RAPSODI study. Researchers are also asking for people who know they carry the GBA gene mutation to also come forward to take part in the study, with the aim of understanding more about the link between Parkinson’s and the mutation that causes Gaucher’s.
Researchers are also seeking people with Parkinson’s to take part in a linked study, being led by the same group called PD Frontline. This study aims to identify people with Parkinson’s who have the Gaucher related gene and assess their interest in taking part in clinical trials of drugs that could slow the progression of Parkinson’s.
The clinical trials for these drugs will be starting later in 2022, also led by the team at the Royal Free Hospital.
Participants in both studies will be asked to complete an online assessment and will have their DNA analysed via a saliva sample which would be sent in the post.
As part of RAPSODI and PD Frontline, researchers are also evaluating the role of the bacteria that live in the gut in people with a GBA mutation. Their hypothesis is that the composition of these bacteria might be protective against Parkinson’s in some individuals and conversely favour the onset of the disease in some others. For this reason, they currently offer in-depth face-to-face assessments with one of their specialist neurologists at the RFL and the opportunity to donate some samples (saliva, stool, blood, urine)..
They are interested in evaluating people with a GBA mutation above the age of 50, who have either developed signs of Parkinson’s disease or are healthy.
This work is being supported by a $9 million grant from the Michael J. Fox foundation.
Professor Anthony Schapira, principal investigator for the trial, said: “RAPSODI and PD Frontline are really important studies that are helping us to find ways of identifying therapeutics to slow Parkinson’s disease and prevent Gaucher disease. People will be able to participate in research that is fun and easy to do and could potentially have a huge impact on those that carry GBA gene alterations, as well as the Parkinson’s disease community in general.
“Participants will also have the opportunity to join clinical studies of the new treatments designed specifically for those with the GBA gene alterations. This is a very exciting time for Parkinson’s disease research, with a strong chance of success in finding new treatments.”
Professor Derralynn Hughes, clinical director of research and innovation at the Royal Free London and an expert in Gaucher disease, said: “This is an interesting study that could provide a lot of useful information for researchers seeking to deliver important treatments for people who have Parkinson’s disease.”
Helen Matthews Deputy CEO at Cure Parkinson’s which is funding the PD Frontline study, said: “We are expanding PD Frontline to include 3,000 people with Parkinson’s. We aim to engage and involve PD Frontline participants in the clinical trials of drugs with the potential to slow the progression of Parkinson’s that are starting this year in the UK. PD Frontline is about getting #Clinical Trial Ready.”
You can sign up to the RAPSODI study at rapsodistudy.com/en and the PD Frontline study at https://pdfrontline.com/en.
If you would like further information about the RAPSODI study, please email the team at firstname.lastname@example.org or call 020 8016 8177.
For further information about the PD Frontline study please contact the team at email@example.com or 020 8016 8413.