Patients united: Bringing the patient voice to genetics research

Parkinson’s disease genetic research has a powerful force to hand – an army of patients

Patients have always been at the heart of the Cure Parkinson’s Trust (CPT), co-founded by four individuals with PD in 2005. Today it has 16,000 forum members with Parkinson’s disease (PD), about 2,000 PD patients in clinical trials, and approximately 1,500 PD patients attending the World Parkinson’s Congress. 

Together with several external research and fundraising institutes, the charity brings together all the personal experience and scientific expertise needed to propel its patient-centric mission to find a cure. “Having a broad range of personal and professional expertise available enables CPT to include the right advocates with the right projects to ensure the greatest impact of the patient voice,” says Helen Matthews, Deputy CEO of CPT. “This is vital.”

It engages with this community of PD patients to further genetic research in a number of ways. For example, the CPT Twitter account has 15k followers, with tweets combining posts about clinical and scientific breakthroughs, conferences, and clinical trial initiatives. 

 A related Twitter account, Science of Parkinson's, is managed by CPT’s Deputy Director of Research Dr Simon Stott and gives updates on the latest research in the field. Although much more scientific than CPT’s primary Twitter, it has many contributions from PD patients and professional scientists who have PD – the latter of whom CPT refer to as “Parkinson’s advocates.”

Patients steering research

“We are passionate and committed to developing new treatments to change the progression of Parkinson’s, but we must always ensure that our research programmes are relevant and designed with people who have Parkinson’s,” asserts Matthews. 

 “With” is the key word here. Patient communities such as that cultivated by CPT are becoming more than participant pools; patients are co-creating research and, in many ways, becoming part of the research team. They even have the opportunity to influence which research takes place.

 For the past eight years, with the support of the US-based Van Andel Institute, CPT has been leading the international Linked Clinical Trial (LCT) programme – an initiative represented by 21 global PD experts who meet annually to decide which drugs to put into clinical trials. “At the LCT meeting, the committee of experts is presented with a set of dossiers that provide everything we know about 20+ drugs that have demonstrated preclinically to potentially slow, stop or reverse PD,” explains Dr Stott. 

 “The LCT committee will evaluate and vote on which drugs should be prioritized for clinical evaluation. We invite several patient advocates who add to the discussion and although they do not have a vote, their voice has been influential in the decision-making process.”

A concurrent PD patient conference happens at the same time at which about 100-150 patients listen to presentations, which are often broadcast live via Facebook, to huge numbers of PD patients. 

 A particularly notable LCT is that of Ambroxol. Originally developed as an expectorant agent for respiratory diseases, Ambroxol has been shown to improve the function of the neuronal enzyme, beta Glucocerebrosidase (GCase). This enzyme can be dysfunctional in certain people with PD who carry a mutation in the GBA gene that encodes for this enzyme.

 A clinical trial testing Ambroxol’s tolerability and efficacy in PD patients who are both positive and negative for this GBA genetic mutation has recently been completed and the results will be published shortly. Such studies can provide valuable insights on which subset of patients might respond better to the treatment. 

In the future, CPT may be able to recruit patients to clinical trials based on their genetic variations to accelerate trial recruitment and the testing of potentially life-enhancing or curative treatments. 

 CPT has funded and supported genetics projects focused on identifying specific subtypes of PD. For example, the Rapsodi/Frontline study is attempting to build a cohort of individuals with a specific genetic variant who are ‘clinical trial ready.’ “This work will aid in recruitment for an upcoming Phase III clinical trial for one of our drugs,” says Dr Stott. 

 Patients steering education

Developing a strong patient voice to advance genetics research also involves supporting and funding patient-informed educational events. “CPT is a supporter of Parkinson’s genetic research events, such as the International Parkinson Disease Genomics Consortium (IPDGC) meeting held in London in December, at which we also invite patients to attend and add to the discussion,” says Dr Stott. “Patients bring many different skill sets from their lives, some of which can be useful in very specialized meetings like the IPDGC meeting. They also have the lived experience of the condition, which researchers do not.”

 Another important conference is the World Parkinson's Congress, which runs every three years. It is quite rare in that approximately 1,500 patients attend alongside 1,500 Parkinson's advocates. “It is so important that people with Parkinson’s are involved in education outreach, communication about the role of genetics in context and, critically, ethical discussions around data,” emphasizes Matthews. “While genetic data is valuable for research, it is also sensitive data for the individual, so understanding its use and the impact of data contribution is very important.”

Patient purpose

Matt Eagles was diagnosed with a genetic variant of PD (Parkin 1) at the age of seven years, but he hasn’t sat back and allowed the condition to disempower him. Far from it. He has set up his own community, ParkyLife, to show what he calls “the brighter side of Parkinson’s.” After all, he says, “I want to show that I can live life to the full despite the diagnosis.” And he has certainly been doing that, taking part in several of CPT’s events as a photographer, including a Celebrity Quiz Night with UK entertainers Tim Vine and Graham Norton.

 He is also a strong advocate of patients being involved in research. “Motivating a patient community is like creating an army of change. Patients play an essential role in advancing science, particularly in genetic research,” he says. “They are the focal point and without their insight and ultimate participation, the science is not going to advance in a way that will improve patient outcomes. Patients must be consulted so that the research is meaningful right from the beginning, otherwise their inclusion is purely placatory and the results will not be genuinely impactful.” 

Eagles describes his own involvement in patient communities and research as an “emotional investment” that gives him purpose. “Feeling good about your involvement in research or patient communities allows your body to be more resilient and cope better with the stresses and strains of living with a chronic, degenerative, neurological disease such as Parkinson’s,” he adds. 

 Patients as instrumental influencers

“All research on PD should be patient-centric,” says Dr Stott – and you can’t get much more patient-centric than research driven and guided by a community made up of patients. 

 Any organisation wishing to advance genetic research should involve the patient population from the outset and at every stage, says Matthews. 

To encourage such investment and motivation, Dr Stott says, “Motivation comes from involving patients in the research not as participants but as instrumental influencers in the decision-making process, and sharing information and research discoveries to encourage discussions about the findings.” 

 This involvement can be further achieved through open access research publications and layperson summaries of research work. Indeed, as well as the CPT website, the charity also has a more patient-orientated website called Parkinson's Movement to ensure all information is accessible to the patients whose influence it values so much. 

 Ultimately, active patient communities are a win for all. For researchers, they increase understanding of the patient’s needs and inform the design of more targeted research and treatment approaches. For patients, these communities empower them to contribute to the fight against their disease while also getting support and empathy from other people with the condition. 

 “Companies must recognise patients as the ultimate stakeholders in clinical trials,” Eagles concludes. By increasing their participation, patients become the drivers of ground-breaking research and programmes designed to understand the link between genetics and PD. The key goal? A cure. Until then, patient-driven genetic research can go a long way towards developing personalised treatments that could significantly improve quality of life for people with Parkinson’s disease and their carers.