PD community involvement in trial design outshines recent clinical trial outcomes 

The role of people with Parkinson’s disease (PD) in shaping research has never been more critical than today. “People living with Parkinson’s are experts, they have the lived experience and should be engaged as equal partners in the drug development process,” said Evelyn Stevens, Parkinson’s Foundation Senior Director of Community Engagement.  

One avenue of engagement is the Patient Engagement Council for Parkinson’s Research (PECPR). Established in 2021, the PECPR has worked to ensure that the Parkinson’s community has a seat at the table in drug development. A collaboration between UCB, the Parkinson’s Foundation, Parkinson’s UK, and five people living with Parkinson’s, the council believes patient insights should guide research priorities.  

The goal of the PECPR was to engage those with PD in research and trial design, guiding development toward results that will most impact and benefit their lives. The council: 

1. Developed a “playbook” for including people with Parkinson’s feedback, ensuring that medicines are designed to address what matters most to the PD community. 

2. Prioritized accessibility and inclusivity in all stages of treatment research, so that treatments are developed with the wide diversity of the PD community in mind. 

3. Advanced the field of disease-modifying therapies for PD, which seek to slow, stop, or even reverse the disease progression rather than simply treat its symptoms. 

The council’s efforts were recognized when it won a 2024 Made with Patients award from the Patient Focused Medicines Development, underscoring the impact of patient-driven collaboration. 

PECPR played a key role in shaping a recent clinical study called ORCHESTRA, testing the efficacy of the pharmaceutical company UCB’s drug, minzasolmin. Unfortunately, in December 2024, UCB announced the study did not meet its efficacy goals. Days later, another pharmaceutical company, Roche, announced similar results — their intravenous PD drug called prasinezumab also missed the primary endpoint, but suggests possible benefit in early-stage PD.  

Both drugs were designed to slow the progression of PD by targeting a protein called alpha-synuclein normally found in the brain. When this protein is mishappen and builds up in the brain it disrupts brain function and leads to PD symptoms. Neither drug significantly slowed disease progression in trial participants when compared to the participant group that received a placebo.  

“Developing effective disease-modifying PD treatments comes with numerous challenges,” said Maggie Caulfield, PhD, Director of Research at the Parkinson’s Foundation. “One concern is that a therapy needs to reach the right area in the brain, get into the right cells, and interact with a particular molecule — all in a system where cells in the brain are already unhealthy.” 

While the minzasolmin trial did not yield the hoped-for results, PECPR’s mission remains unchanged: to push for research that directly addresses the real needs of people with Parkinson’s.  

Looking ahead, PECPR is focused on expanding patient engagement strategies, refining accessibility in research, and continuing to advocate for treatments that go beyond symptom management to fundamentally change the course of Parkinson’s.  

Strengthening the Odds of Finding New Disease Modifying Therapies 

While trial failures for disease modifying therapies for PD are disappointing, they ultimately provide researchers with new, valuable data that will guide the next round of treatments. Researchers can utilize data (positive and negative results) to help overcome previous biological hurdles.  

“Parkinson’s researchers will keep trying and tweaking until we have the next breakthrough,” said Dr. Caulfield, “There are all kinds of different ways that researchers and clinicians are trying to reach disease related targets, we just have to keep pushing and eventually something will work.” 

One area where patient engagement is vital is in genetics research. Understanding the genetic factors behind PD can help researchers develop more targeted, effective treatments. Pharmaceutical companies are already partnering with people with PD to improve their clinical trials that are based on genetic ties to PD. 

Studies like the Parkinson’s Foundation PD GENEration: Mapping the Future of Parkinson’s Disease are advancing this effort by offering free genetic testing and counseling to people with PD. By identifying genetic variants linked to PD, researchers can uncover new pathways for treatment — bringing the field closer to personalized medicine, where therapies can be tailored to a person’s genetic profile. 

“There is a lot of hope in understanding Parkinson’s through genetics and leveraging study data to find the next disease modifying treatment,” said Evelyn. 

Patience, Perseverance and Continued Progress 

Every person with PD experiences unique symptoms and disease progression. These differences can be related to genetics, environment, age or other factors, all of which make finding new, effective disease-modifying therapies for PD a daunting task.  

As PD research moves forward, the involvement of the PD community is invaluable and critical. Groups like PECPR and Parkinson’s Foundation research advocates ensure that the experiences of those with PD guide treatment development in ways most beneficial to the PD community.  

“It’s an exciting time to see so many researchers and industry partners wanting to listen and learn from those living with Parkinson’s,” said Evelyn. “That’s what community engagement is all about — it’s a collaborative process where we combine our experience and expertise to improve the health of those living with Parkinson’s. That’s what will lead us to a cure for PD” 

Learn More 

The Parkinson’s Foundation works to improve care for people with PD and advance research toward a cure. 

• Discover how we are working to close gaps in knowledge about PD: Advancing Research 

• Learn about PD GENEration: our global genetics study that provides genetic testing and counseling at no cost for people with Parkinson’s. 

• Explore ways to get involved: from our research advocate program to joining a research study. 

Parkinson’s disease (PD) research has changed drastically over the last few decades. In the past, scientists approached PD research more broadly, often applying general neurological concepts rather than focusing specifically on the unique aspects of PD itself. Today, the field has advanced to include more specific treatments and interventions tailored to address the symptoms and underlying causes of PD directly, offering new possibilities for more effective care and management. 

Dr. James Beck, Chief Scientific Officer of the Parkinson’s Foundation, alongside a few of the Parkinson’s Foundation research grantees discuss the advancements in PD research, how the field has transformed and where it is headed in the future. 

More than 75% of people with Parkinson’s disease (PD) report sleep-related symptoms. The presence of sleep disorders can significantly impact quality of life for the person with Parkinson’s and their care partner, contributing to fatigue, cognitive impairment and mood disorders. 

Sleep disorders can manifest in various ways, including insomnia (difficulty falling asleep or staying asleep), Rapid eye movement (REM) sleep behavior disorder (acting out dreams), restless leg syndrome, excessive daytime sleepiness and sleep apnea.  

Research shows that sleep problems are common in early Parkinson’s stages and can get worse as the disease progresses. It’s likely that these issues stem from a combination of factors including the disease's impact on brain regions regulating sleep-wake cycles. Research also shows that sleep issues are worsened due to coexisting PD conditions like depression and anxiety, medication side effects and movement symptoms.  

However, it remains unclear if people with PD usually suffer from one single type of sleep problem, or from multiple sleep problems at the same time. In addition, researchers are still learning how sleep issues relate to other aspects of PD. A new study published in npj Parkinson's Disease systematically evaluated sleep issues in people with early-stage Parkinson's.  

Study Results 

To learn more about sleep disorders, the study examined sleep issues in 162 people with early-stage Parkinson's and 58 people without the disease. The research team used interviews, overnight sleep studies (polysomnography) and various tests to understand the participants' sleep, motor skills, thinking abilities and other health factors.  

They found that a large majority (71%) of those with early-stage Parkinson's had at least one sleep disorder. Importantly, about half of those with sleep problems experienced multiple issues at the same time. They also observed that the longer someone had Parkinson's and the more problems they had with involuntary bodily functions (like blood pressure or digestion), the more sleep disorders they tended to have. 

This new study data shows that most common sleep issues associated with Parkinson’s were insomnia (41% of participants), followed by REM sleep behavior disorder and excessive daytime sleepiness (both 25% of participants), and restless legs syndrome (16% of participants). Rates of sleep-disordered breathing, such as sleep apnea, were consistent between those with and without the disease. 

The researchers looked for trends between sleep disorders, demographics, and common PD symptoms. They found that insomnia, especially trouble staying asleep, was more common in women and those with restless legs syndrome but wasn't linked to movement problems or mood issues. REM sleep behavior disorder seemed to be connected to problems with involuntary bodily functions (like blood pressure or digestion) and older age, but not movement or thinking difficulties. Excessive daytime sleepiness was related to mood symptoms, movement problems and the use of certain Parkinson's medications, but not other sleep disorders. 

Overall, the study found that sleep problems are very common even in early-stage Parkinson's and that people with PD often suffer from multiple sleep issues at the same time. The results suggest that these sleep issues are more likely to be tied to physical changes in the body rather than psychological factors, like anxiety or depression. 

Highlights 

• The study enrolled 162 people with early-stage Parkinson's and 58 people without the disease. 

• The study found that sleep problems are very common in early Parkinson's and that many PD patients have multiple sleep disturbances. 

• The most common sleep problems impacting people with Parkinson’s were insomnia (41% of participants), REM sleep behavior disorder (25% of participants), excessive daytime sleepiness (25% of participants), and restless legs syndrome (16% of participants). 

• Sleep issues are more likely tied to physical changes in the body rather than psychological factors, like anxiety or depression. 

What does this mean? 

Sleep disorders are a common non-movement symptom in Parkinson’s disease, and are typically caused by changes in the body, rather than by anxiety or depression. Importantly, this study shows that people with PD frequently experience multiple sleep disorders at once. This increases the difficulty of properly treating sleep disorders and likely increases the burden of sleep issues on the daily lives of those with PD. 

Additionally, this study reflects that many people in the early stages of PD — even before the development of severe motor impairment — experience sleep issues. Thrashing around in bed or acting out dreams when deeply asleep may be an early sign of Parkinson's. 

What do these findings mean to the people with PD right now? 

There are many tips you can try at home to naturally address sleep issues. There are also treatments your care team can recommend addressing sleep disorders. This is a topic everyone with PD should bring up to their doctor and care team, who may refer you to a sleep specialist. A specialist can evaluate and identify sleep issues, which can customize treatment options.   

Sleep is particularly essential to people with PD as recent research studies have shown that sleep helps clear waste products from the brain. This has significant implications for people with PD as abnormal proteins build up in the brain.   

Learn More 

The Parkinson’s Foundation believes in empowering the Parkinson’s community through education. Learn more about PD and sleep in our below resources, or by calling our free Helpline at 1-800-4PD-INFO (1-800-473-4636) for answers to your Parkinson’s questions. 

• Sleep Problems in Parkinson’s 

• Sleep: A Mind Guide to Parkinson's Disease (Educational Guide) 

• Expert Tips on How to Get Good Sleep with Parkinson's 

After decades of research, several genetic mutations have been linked to Parkinson’s disease (PD) but we do not fully understand how these mutations cause PD. 

One such PD-associated mutation leads to the production of a malfunctioning version of the protein Leucine Rich Repeat Kinase 2 (LRRK2). Faulty LRRK2 is believed to disrupt several important processes within neurons and consequently contribute to PD progression, but how exactly these disruptions lead to the disease is still being studied. 

When looking at the posthumous brain tissue of people who had LRRK2-mutant PD, scientists have routinely seen unhealthy aggregates or clumps of a protein called tau. Similar to alpha-synuclein clumping, tau clumping is believed to contribute to the disease-related breakdown of dopamine neurons and is associated with PD dementia.   

Silas Buck, PhD, recipient of a Parkinson’s Foundation Postdoctoral Fellowship, is investigating how a relatively understudied protein called Histone Deacetylase 6 (HDAC6), which is responsible for regulating tau and keeping it from clumping, may be affected by mutant LRRK2 and drive PD-related cellular breakdown.  

“What I’m studying is how LRRK2 may cause the accumulation of a protein called tau. When tau is misfolded, it can accumulate into these clumps in the brain cells and that can cause neurons, or brain cells, to degenerate and lead to not just movement symptoms, but tau, specifically, is also associated with the cognitive symptoms that are seen in Parkinson’s. So, addressing the cause of tau protein accumulation can potentially treat non-movement symptoms in people with PD,” said Dr. Buck. 

Using neurons grown in petri dishes, Dr. Buck will first measure how much LRRK2 and HDAC6 interact in healthy brain cells.   

Then, he will introduce mutant LRRK2 into those cells and analyze how that affects the LRRK2-HDAC6 interactions and if such changes result in tau clumping. Finally, Dr. Buck will investigate if mutant LRRK2’s impact on HDAC6 also contributes to disrupted mitochondria repair and cleanup, another cellular stressor commonly seen in PD brain tissue.   

Uncovering more biochemical links in the chain between gene mutation and PD means more opportunities to intervene in the disease’s progression. Through Dr. Buck’s experiments, we will understand more about HDAC6’s role in PD development and how it could be the target of new future therapies, expanding the effective medication options and improving doctors’ ability to provide genetically personalized treatment plans for people with Parkinson’s. 

“Studying these proteins and how they are dysfunctional in Parkinson’s disease can inform us not just about those genetic cases but also how Parkinson’s disease forms in cases that do not have a clear genetic form as well,” Dr. Buck said. 

“This fellowship from the Parkinson’s Foundation is key to helping me develop into a fully independent scientist and investigator, where I can one day have my own research program and run my own lab to continue investigating mechanisms of degeneration in Parkinson’s disease,” Dr. Buck said. “Receiving this postdoctoral fellowship allows me to pursue my passion of performing exciting and important research that could one day help substantially improve the lives of people with Parkinson’s disease. It has always been my dream to make a difference in the health of others through research, and I hope to achieve that through this project.”  

Meet more Parkinson’s researchers! Explore our My PD Stories featuring PD researchers. 

Este mes de febrero, un nuevo estudio publicado en la revista médica The Lancet ha despertado importantes dudas acerca de la eficacia potencial de la clase de fármacos para la diabetes agonistas del receptor GLP-1 en el tratamiento de la enfermedad de Parkinson (EP).  

Un ensayo clínico de fase 3 evaluó el agonista del receptor de GLP-1 llamado Exenatida. El estudio, que constó de 194 participantes a quienes se dio seguimiento durante dos años, encontró que el uso diario de Exenatide no proporcionó ninguna mejora significativa para los síntomas del Parkinson en comparación con el placebo. Esta falta de mejora fue consistente en todos los grupos de edad, sexos y estadios de la EP. Los investigadores también realizaron tomografías computarizadas (CT scan) del cerebro antes y después del estudio en participantes seleccionados y descubrieron que la Exenatida no afectaba la actividad dopaminérgica en las regiones cerebrales relevantes para la EP. 

Estos resultados sugieren que los actuales medicamentos agonistas del receptor GLP-1 no son eficaces como tratamientos modificadores de la enfermedad de Parkinson. A medida que los científicos aprendan más acerca de la vía biológica del GLP-1 y cómo afecta la salud de las neuronas dopaminérgicas, es probable que en el futuro se desarrollen y se pongan a prueba nuevos medicamentos con GLP-1 específicamente diseñados para el Parkinson. 

¿Podrían los medicamentos para la diabetes como el Ozempic ser un tratamiento para el Parkinson? 

Un ensayo clínico de lixisenatida, un fármaco aprobado por la FDA en 2016 para tratar la diabetes, mostró potencial para reducir los síntomas motores en personas con Parkinson 

La enfermedad de Parkinson (EP) es un trastorno neurodegenerativo en el que las células cerebrales productoras de dopamina se descomponen lentamente con el paso del tiempo. Esta pérdida de dopamina provoca diversos síntomas motores, como temblor, rigidez, lentitud de movimientos y problemas con el equilibrio. Aunque los tratamientos actuales pueden ayudar a controlar muchos de los síntomas de la EP, no abordan las causas de la enfermedad y, por lo tanto, no pueden evitar su progresión.  

Nuevas investigaciones sugieren una posible relación entre la disminución de la sensibilidad del cerebro a la hormona insulina y la progresión del Parkinson. Esta observación ha llevado a los investigadores a estudiar si los medicamentos antidiabéticos que ayudan a controlar los niveles de insulina podrían ralentizar la progresión del Parkinson. 

Los fármacos Ozempic y Wegovy pertenecen a una clase de medicamentos para la diabetes llamados agonistas de los receptores GLP-1 que, junto con algunos otros medicamentos para la diabetes, han mostrado potencial para reducir el riesgo de desarrollar Parkinson en personas con diabetes. Estos fármacos imitan la acción de una hormona natural que regula los niveles de azúcar en sangre. 

Sin embargo, se desconoce si los fármacos agonistas del receptor GLP-1 pueden beneficiar a las personas con Parkinson que no tienen diabetes. 

Un reciente ensayo clínico, publicado en el New England Journal of Medicine, analizó si un agonista del GLP-1 llamado lixisenatida podría ofrecer un nuevo enfoque de tratamiento para las personas en los primeros estadios del Parkinson. El estudio mostró que la lixisenatida, que fue aprobada por la FDA en 2016 para ayudar a los diabéticos a controlar el azúcar en la sangre, ayudó con los síntomas motores en personas con la EP y podría ralentizar la progresión del Parkinson.  

Como parte de este estudio, un modelo de ratón del Parkinson demostró que la lixisenatida mejoraba los problemas motores y preservaba las células cerebrales, lo que sugiere que los agonistas del GLP-1 podrían tratar las causas subyacentes de la EP.  

Además, la lixisenatida no es el único agonista del receptor GLP-1 con potenciales aplicaciones terapéuticas para el Parkinson: al menos otros seis medicamentos similares están bajo evaluación actualmente como tratamiento potencial para la EP. Sin embargo, en comparación con la liraglutida y la semaglutida (como Wegovy), la lixisenatida parece ser más eficaz en atravesar la barrera hematoencefálica. 

Resultados del estudio 

El nuevo estudio, —un ensayo clínico de fase 2—, reclutó a 156 personas con Parkinson, que fueron asignadas aleatoriamente para recibir lixisenatida o un placebo. Los participantes fueron diagnosticados con Parkinson dentro de los tres años anteriores y estaban tomando medicamentos dopaminérgicos, como la levodopa y continuaron haciéndolo durante el ensayo. Para cada participante, los investigadores evaluaron los síntomas antes del tratamiento con la inyección diaria de placebo o lixisenatida y 12 meses después. 

Tras 12 meses de tratamiento, las personas que recibieron lixisenatida mostraron mejores resultados en sus síntomas motores en comparación con las que recibieron un placebo. Mientras que los síntomas motores del grupo de lixisenatida no cambiaron en comparación con el inicio del ensayo, el grupo de placebo experimentó un empeoramiento de sus síntomas.  

Tras 12 meses de tomar lixisenatida o un placebo, los participantes se sometieron a dos meses sin ningún tratamiento y se volvieron a evaluar los síntomas. El grupo de lixisenatida mostró mejores síntomas motores en comparación con el grupo de control después de dos meses, lo que sugiere que la lixisenatida puede tener un impacto positivo en la progresión de la enfermedad.  

Cabe destacar que los que recibieron lixisenatida tuvieron más efectos secundarios gastrointestinales: un 46% de los participantes que tomaron lixisenatida tuvieron náuseas y 13% experimentaron vómitos. Aproximadamente un tercio de los participantes (28 personas) que recibieron lixisenatida optaron por una dosis inferior durante el estudio debido a los efectos secundarios. 

Destacados 

• En el estudio participaron 156 personas con Parkinson, que fueron asignadas aleatoriamente a recibir una inyección diaria de lixisenatida (un agonista del GLP-1) o un placebo. 

• Tras un año de tratamiento, las personas que recibieron lixisenatida mostraron mejores resultados en sus síntomas motores en comparación con las que recibieron un placebo. 

• La lixisenatida provocó efectos secundarios gastrointestinales en muchos participantes: un 46% tuvo náuseas y un 13% experimentó vómitos. 

¿Qué significa esto para los medicamentos del GLP-1 y el Parkinson? 

Este estudio puede indicar que ciertos agonistas del GLP-1 podrían ser beneficiosos para reducir ciertos síntomas del Parkinson. Estos prometedores resultados inspirarán más investigaciones sobre los efectos a largo plazo de la lixisenatida en la progresión de la EP.  

Este estudio tenía un tamaño de muestra pequeño y sólo evaluó el fármaco en los recién diagnosticados (diagnosticados en los últimos tres años). Se necesitan estudios más amplios, con un número significativamente mayor de participantes que vivan con rangos más amplios de los estadios de la EP, antes de que podamos establecer una conexión entre los agonistas del GLP-1 y el control de los síntomas o la progresión de la enfermedad.  

Por último, actualmente se están investigando muchos agonistas del GLP-1 para el tratamiento de la EP y otros fármacos similares han mostrado resultados menos prometedores en comparación con la lixisenatida. Se necesitan más investigaciones para comprender las diferencias entre los distintos agonistas del GLP-1 sobre los síntomas de la EP.  

¿Qué significan estos hallazgos para las personas con la EP en este momento? 

Actualmente, los agonistas del GLP-1 sólo están aprobados para el tratamiento de la diabetes y la obesidad. Las personas con Parkinson que también tienen diabetes y obesidad deben hablar con su médico antes de empezar a tomar un agonista del GLP-1. Actualmente no hay pruebas suficientes que respalden el uso de agonistas del GLP-1 como la lixisenatida como tratamiento para las personas con Parkinson que no tienen diabetes ni obesidad.  

Además, la pérdida de peso asociada a los agonistas del GLP-1 puede ser un problema para las muchas personas con Parkinson que experimentan una pérdida de peso involuntaria a lo largo de la enfermedad.  

Cabe destacar que la lixisenatida ya no está disponible en los EE.UU.  

Aprenda más 

La Parkinson’s Foundation cree en el empoderamiento de la comunidad de Parkinson a través de la educación. Aprenda más acerca de la EP y de los temas en este artículo a través de nuestros recursos mencionados abajo o llame a nuestra Línea de Ayuda gratuita al 1-800-4PD-INFO (1-800-473-4636), opción 3 para español, para obtener respuestas a sus preguntas acerca del Parkinson. 

• La investigación de modificadores de la enfermedad ofrece posibilidades para la enfermedad de Parkinson 

• Entendiendo el Parkinson 

• Las etapas del Parkinson: ¿Cómo es la progresión de la enfermedad? 

PD GENEration: Powered by the Parkinson’s Foundation is an international Parkinson’s Foundation research study that has enrolled more than 20,000 people with Parkinson’s disease (PD) since its launch six years ago. Study data has already led to eye-opening insights into the disease, such as determining a more precise range of 12-13% of people with PD having a genetic link to the disease — significantly more accurate than the previously estimated 5-10% average prevalence.

As PD GENEration continues to expand, the Parkinson’s Foundation remains dedicated to its core mission of educating people with Parkinson’s. The Foundation held a live webinar to share what we’ve learned from PD GENEration so far and where the study may be headed. Joining the study team speakers were two PD GENEration participants who spoke about their experiences. This webinar offered PD GENEration participants and their families the opportunity to ask questions of the study team.   

The following article is based on the Parkinson’s Foundation webinar PD GENEration: Advancing Research, Empowering Lives, hosted on January 21, 2025 by James Beck, PhD, Chief Scientific Officer, with guests Roy Alcalay, MD, PD GENEration Principal Investigator, Vanessa Russell-Palmer, Parkinson’s Foundation Research Advocate, and Lisa Kirk, PD GENEration participant.

Watch the full webinar recording now

Previous Genetic Testing Studies Did Not Share Testing Results with Participants

A scientific focus on the genetic risk factors that influence PD is a relatively recent development for the PD research field, which has only gained momentum since the discovery of the first PD-related gene in the 1990s. Since then, more clinical studies began to include genetic testing as a part of their research protocols.

However, the genetic information collected in these studies was not shared with participants, sometimes putting researchers in difficult situations where they identified genetic risk factors but could not let participants know due to trial protocols. Many studies did not include genetic counseling where a trained and licensed counselor reveals and explains test results.

This left many of the people living with PD who were involved in these trials unaware of their PD genetic risk factors. Many then missed opportunities to join future clinical trials centered on their genetic variant, slowing down the progress of PD research for those populations.

“You cannot undo knowledge. If you’re telling someone that they carry a mutation, we cannot take it back,” said Dr. Alcalay. Thus, a hallmark of PD GENEration is to deliver the potential life-changing genetic test results with care and consideration through certified genetic counselors at no-cost to study participants.

PD GENEration Begins: From Pilot Study to Soaring Engagement

In late 2019, the Parkinson’s Foundation launched PD GENEration, which was designed to be accessible to all people with a confirmed Parkinson’s diagnosis. This open approach was in contrast to many previous PD genetics studies, which often limited participation to specific populations. The PD GENEration genetic panel focuses on seven of the most common variants in PD-related genes, all of which are widely recognized as relevant in PD research fields.

In response to COVID-19 precautions in the study’s early years, PD GENEration quickly evolved, providing the ability for people to join the study through an at-home test kit or in-person at a clinical study site.

In the next few years, PD GENEration grew its study population with ever-increasing momentum as more healthcare sites and genetic counselors were brought on board across the country. In March 2024, the total participant count reached 15,000, a significant milestone that encouraged a new phase of expansion.

A goal of PD GENEration is to accelerate PD research. The Parkinson’s Foundation is doing just that by vastly expanding the amount of genetic data available for analysis. To obtain the necessary amount of DNA for analysis, PD GENEration pivoted from saliva-based sample collection to blood-based. Thanks to the innovative Tasso+ device, which allows for quick at-home blood sample collection in a safe and comfortable way, people can continue to join the study remotely while also ensuring they can fully contribute to advancing PD research.

More than Just Data: Knowledge as Empowerment

Since the beginning, PD GENEration’s goal has been to make genetic testing accessible to everyone living with Parkinson’s. In doing so, the study not only collects and shares valuable data with the PD research community in search of treatment breakthroughs but also empowers participants with a greater understanding of their unique disease journey.

Lisa Kirk, a former search-and-rescue canine handler, remembers the shock of learning that her early symptoms were not just aging-related. “It never occurred to me that it was Parkinson's. I thought at the most I had essential tremors. When I did get the diagnosis, it was one of those moments when you remember every detail. You remember the weather, what you were wearing, who was with you. It was a shock.”

Over time, as Lisa better understood how to manage her PD symptoms, she began searching for ways to participate to PD research.

“Whatever treatment I received was because someone else, another patient with Parkinson’s, had participated in a study of some kind. I wanted to help make a difference for other people. That was what motivated me to participate in the PD GENEration study.”

- Lisa Kirk, PD GENEration participant

For Vanessa Palmer, her diagnosis came after an orthopedic injury. “I noticed on my right side in my hand, it felt like I had a tremor, but when I looked I couldn’t see any movement. My orthopedic doctor just thought I had a lot of sciatic nerve damage and said ‘We’ll just watch it’. But by the end of 2015, I had a true resting tremor.”

Eventually she found a neurologist who ran some tests. “The neurologist asked me ‘Did you bring anyone with you?’ I said no, I’m on my lunch hour, and she said ‘Well, I think you have early-onset Parkinson’s disease. And it just took the wind out of me.” A second opinion at a movement disorders clinic confirmed Vanessa’s PD diagnosis.

Her first few years of living with PD Vanessa was in survival mode. “Just taking my meds, hoping they’re working and just trying to survive.” One day her doctor asked if she wanted to participate in research. She said yes “because at this point, I wanted to do something to contribute or fight back. The first thing she presented to me was PD GENEration.” Having no family history of PD, Vanessa was interested to better understand the cause of her diagnoses.

The genetic results and counseling provided to Lisa and Vanessa had their share of surprises. Lisa learned that she had the GBA1 mutation, the most common PD risk factor. “That’s when I realized I needed to talk to my family and tell them that hereditary PD is a possibility. I understand that most people with this mutation never get Parkinson’s, but some do so I wanted to give my family a heads up,” Lisa said.

The unexpected result related to Lisa’s ancestry. Lisa believed that her family history was based in northern Europe, but from the genetic testing she learned that her genealogy is primarily French with an Ashkenazi background, a genetic heritage linked to greater risk for PD. “All of these things were grounding,” Lisa says, “It actually helped me feel like I have a better understanding of who I am and my role in Parkinson’s.”

Vanessa’s results revealed that she did not have a genetic tie to PD. “At least I know, and I’m not worried about my children and my grandchildren to come,” she said. While the results may not have helped explain Vanessa’s diagnosis, they still help researchers look for new undiscovered causes or risk factors for PD, which “helped me feel better, and I wanted to help other people feel better, and [as an African American] I wanted to help get more diversity in the database.” Vanessa would go on to become a Parkinson’s Foundation Research Advocate in 2023, and continues to support her PD community through outreach, information sharing, and empowerment.

As the study progresses, driven by collaboration between researchers, clinicians and the PD community, PD GENEration is confident that it can help contribute the data and knowledge to help answer these and many other questions.

There is still so much more to understand about Parkinson’s, but the continued success and support of PD GENEration is undoubtedly helping the science behind PD and the community move forward, together.

Learn more about PD GENEration and how you can enroll today.

In 2024, Moving Day, A Walk for Parkinson’s, Parkinson’s Revolution and Parkinson’s Champions raised $8.3 million to advance Parkinson’s disease (PD) research, improve access to care and connect people with PD and their loved ones to life-changing resources and support. 

These fundraisers and volunteers inspire us as they passionately spread Parkinson’s awareness and make Parkinson’s Foundation events a success. Meet Cindy, Hailey, Peggy and more community members who help us move toward a cure:

Cindy Builds Community Through Caregiving

Cindy George set out to learn as much as she could about Parkinson’s disease after her husband, Dale, was diagnosed 13 years ago. Together, they have grown their local PD community by starting a support group, participating in Moving Day Salt Lake City and more.

“People with Parkinson’s are superheroes who deserve to be recognized, and that’s what happens at Moving Day. It highlights the importance of exercise for people with Parkinson’s and provides so much education and information.”

KEEP READING

Hailey Honors Dad, Rallies Friends through Parkinson’s Revolution

After her dad was diagnosed with PD, Hailey Harn wanted to wanted to find a positive and productive way to channel her energy toward a mission that would make an impact. She was touched when friends and other members of her community wanted to make an impact alongside her.

“Friends enthusiastically joined my team to raise money through Parkinson’s Revolution — we all realized PD touches far more people than we thought. With each donation came a story of a relative, colleague or friend who also had a connection to PD, and gratitude for working toward PD education, care and a cure!”

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Peggy Completes 50 Marathons in 50 States to Raise Parkinson’s Awareness

Peggy was halfway to her goal of completing 50 marathons in 50 states when she was diagnosed with Parkinson’s. She didn’t let this deter her, and finished her final marathon as a part of Parkinson’s Champions on September 24, 2024.

“I found out during a race, around mile 20 when my gait and balance started to suffer, that I was going to have to work harder to make this goal happen with Parkinson’s. Other concerned racers asked if I needed help or medical attention. I thanked them for their concern and said, ‘This is what Parkinson’s looks like; help us find a cure.’”

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Piedmont Fayetteville Unites Parkinson’s Community with First Community Walk

When Evan M. Johnson, MD, MSc, joined Piedmont Fayette Hospital in Fayetteville, GA, as a movement disorders specialist, he told his team his goal was to reach as many people as possible to support those with Parkinson’s and educate others. Organizing a Moving Day Community Walk for Fayetteville allowed them to unite their community and raise almost four times their fundraising goal.

“Community events like this are special moments to recognize and celebrate all individuals who are connected to Parkinson’s. Doing so helps reinforce to patients that they are not alone but are a part of a large community of peers and support.”

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In 2024, the Parkinson’s Foundation expanded its international genetics study, PD GENEration: Mapping the Future of Parkinson’s Disease, both geographically and biologically. The study team’s recruitment efforts led to an increase in the diversity of participants. Changes to sample collection and genetic sequencing allowed for the inclusion of more than 30 new genetic markers of interest. The results from three of these scope-expanding initiatives were presented as posters at international Parkinson’s and medical conferences. Below we highlight each poster.  

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1. Bringing PD Genetic Testing to Latin America with LARGE-PD 

For large-scale studies that provide genetic sequencing and counseling like PD GENEration, participant diversity is essential. Having genetic data from people across the world creates a strong foundation for impactful research breakthroughs. With that in mind, the Parkinson’s Foundation partnered with the Latin America Research consortium on the Genetics of Parkinson’s Disease (LARGE-PD) to expand the PD GENEration study to new countries. In just a few months, we have provided valuable genetic testing and counseling to new, underserved populations, broadening our understanding of the disease.  Six LARGE-PD sites offer the PD GENEration study today. The six selected sites are in Colombia, Chile, Peru, Mexico, El Salvador and the Dominican Republic, supporting a wide range of Latin American communities. Every PD GENEratrion site offers high-quality testing and genetic counseling. 

These sites enrolled 446 new participants and trained 16 clinicians to return genetic testing results — maintaining PD GENEration's momentum into the new year. This LARGE-PD collaboration and these six new Latin American sites support PD GENEration’s goals of accelerating clinical trials in PD, improving PD care and research and empowering people with PD and their care teams. 

2. Building Trusted Connections with the Hawaii PD Community 

PD GENEration recruitment in Hawaiʻi began in 2022, but participation was limited to at-home testing with only a few people signing up each month. With help from the Hawaiʻi Parkinson Association (HPA), a local partner since 2018, the Parkinson’s Foundation worked with The Queen’s Medical Center in Honolulu as Hawaii’s first PD GENEration site in 2023, which is also a Parkinson’s Foundation Comprehensive Care Center. This location immediately accelerated participation with an increased average of nearly 20 new people joining the study every month.  

As sign-ups increased, we learned new insights into the Hawaii PD community. In particular their historical mistrust of the medical field and hesitance toward sharing personal health information due to western colonization. Leading with empathy and understanding of this historical trauma, the PD GENEration outreach team worked closely with local organizers to drive an outreach campaign in hopes of breaking down barriers to inspire joining PD GENEration.  

In October 2024, PD GENEration team members met with Rock Steady Boxing members at the HPA Resource Center, two pillars of the Honolulu PD community. These introductions provided information about the PD GENEration study, including its history, rationale and impact, as well invitations to the upcoming Parkinson’s Foundation Research and Care Event. At this event, attendees learned about what's new in research, how research shapes treatments, and care tips for managing PD symptoms. 

These outreach efforts helped: 

• 30 new people with PD join PD GENEration, over half of whom were from diverse (non-white) populations and 90% had never participated in PD research before.  

• This amounted to a nearly 13% jump in total Hawaii resident enrollment.  

As this momentum continues, PD GENEration and the entire PD research field will gain valuable genetic information from this unique community while the Hawaii participants gain key insights into their diagnoses and personal health. 

3. Diving Deeper into Genetic Testing with the Tasso+ Device 

Accessibility is key for the PD GENEration study. The ability for people with PD to participate either in person at a medical or through an at-home mail-in test has ensured that anyone interested can participate. This accessibility was top-of-mind when the study entered its next phase in March 2024, expanding its genetic testing panel from the nine major PD-related genetic mutations to 40 targets, adding 21 genes with a potential PD connection.  

Participants can now request testing for 10 CDC Tier 1 genes related to other diseases like breast cancer, ovarian cancer, Lynch syndrome, and familial hypercholesterolemia (high cholesterol).

To investigate this wider range of genes in a single test, the format would have to change. While the amount of quality DNA obtained from a cheek swab is sufficient when testing for just a few PD gene mutations, a blood sample is needed for collecting enough testable DNA for the new gene panel. This change is simple for study sites, but the PD GENEration team worked to find a new way to offer at-home testing for the new panel.  

In February 2024, PD GENEration partnered with the company Tasso to produce the study's new blood sample collection kit, called Tasso+. Learn more in this video. In just a few months, the new Tasso+ kit was fully integrated into at-home testing. As of November 2024, more than 1,000 new PD GENEration participants have enrolled using the Tasso+ device with a 97.1% kit success rate. 

With the Tasso+ kit, PD GENEration can now collect and provide even more valuable genetic information to PD researchers, potentially unlocking more clues behind disease progression that can lead to improvements in treatment and care for people with Parkinson’s everywhere. 

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Learn more about PD GENEration and enroll today.