Researchers announced results from the largest study yet of a new test to detect Parkinson’s — it confirmed that the test was accurate, even for early Parkinson’s.

There is currently no single test that can confirm a Parkinson’s disease (PD) diagnosis. Doctors rely on symptoms and in-office tests to make a diagnosis, meaning the disease has most likely progressed years before symptoms are present. However, a recent study adds promising new data to bolster support for a test that may allow Parkinson’s to be diagnosed before symptoms appear and may help inform Parkinson’s clinical trials.

A hallmark of Parkinson’s is a protein called alpha-synuclein, which is involved in normal brain cell function. However, for many with Parkinson’s, the alpha-synuclein protein clumps or misfolds, meaning it is not shaped properly. Certain forms of misfolded alpha-synuclein may act as “seeds” that spread and lead to misfolding of healthy alpha-synuclein. These misfolded proteins can clump together, and eventually kill brain cells.

Prior work supported by the Parkinson’s Foundation, has shown that the alpha-synuclein “seeds” can spread from cell to cell, much like the dye from a red sock in the washing machine can turn everything pink. Because these protein “seeds” are at very low levels, researchers have re-purposed technology originally developed 20 years ago to test for prion diseases to amplify the misfolded alpha-synuclein in Parkinson’s. The test is called an alpha-synuclein seed amplification assay (SAA). Several small studies have previously shown that this test can distinguish between people who do or do not have Parkinson’s.

On April 12, 2023 The Lancet published the largest test of alpha-synuclein SAA to-date. Andrew Siderowf, MD, neurologist at University of Pennsylvania, Luis Concha-Marambio, PhD, research and development director at Amprion, and colleagues analyzed samples from 1,123 participants who were enrolled in the Michael J Fox Foundation’s Parkinson’s Progression Markers Initiative (PPMI), which includes individuals from 33 outpatient neurology practices worldwide.

The participants included 163 healthy volunteers, 545 people with Parkinson disease, 54 people who had evidence of the disease on brain scans, 51 people who had conditions that often later develop Parkinson’s (but did not yet have Parkinson’s symptoms), and 310 people who had gene mutations that are associated with Parkinson’s but did not yet show symptoms.

The alpha-synuclein SAA test detected early Parkinson’s 87% of the time. In volunteers who did not have Parkinson’s, the test showed the absence of the disease 96% of the time. Surprisingly, only 70% of individuals with mutations in their LRRK2 gene, which has been associated with Parkinson’s, had abnormal alpha-synuclein. This observation could have implications for LRRK2 treatments that are currently being developed — perhaps not all individuals with LRRK2 mutations will respond equally to the treatment.

The test’s ability to detect early abnormal alpha-synuclein Parkinson’s makes it a promising potential tool. Though it is not currently commercially available for diagnosing Parkinson’s, it may soon become useful in Parkinson’s clinical trials by helping researchers learn more about the individuals enrolled and in recruiting people at earlier stages. An editorial in The Lancet called it “a game-changer in Parkinson’s disease diagnostics, research, and treatment trials.”

Study Results

• Alpha-synuclein seed amplification assay detected early Parkinson’s 87% of the time
• In volunteers who did not have Parkinson’s, the test showed the absence of the disease 96% of the time

What does this mean?

This method of detecting abnormal alpha-synuclein could be an effective way to detect Parkinson’s years before symptoms appear. Earlier detection would allow for earlier treatment once researchers identify a successful disease-modifying drug. In addition, in its current form, the test can only tell if a person has abnormal alpha-synuclein, NOT how much and how it is changing over time.

Additionally, researchers could use this method to recruit people with early-stage Parkinson’s to clinical trials. It could also help determine the effectiveness of treatments in clinical studies. For example, if a drug treatment reduces abnormal alpha-synuclein over time, it could indicate that the treatment is having an effect.

However, a downside to this test is that it requires a lumbar puncture, also called a spinal tap, to obtain samples of cerebrospinal fluid (CSF). A lumbar puncture can be uncomfortable and requires a specialist physician. It may also cause short-term side effects like headache.

Research Springboard

Studying seed amplification assays to detect and monitor the progression of Parkinson's is a large and growing field of research that brings hope. In 2014, SAA's were applied specifically to detect alpha-synuclein, and researchers have been working on improving them ever since.

Researchers in the PD field are working to develop a quantitative test — an alpha-synuclein SAA test — that finds the presence of alpha-synuclein and measures the amount of abnormal alpha-synuclein. A test like this could be used to see if the alpha-synuclein amount changes with the disease progression, symptom appearance and specific treatments. The hope is to develop an alpha-synuclein SAA test using samples from blood, nasal mucosa, skin and other body fluids that do not require an invasive procedure.

Concurrently to this study, Parkinson's Foundation research grantee, Giovanni Bellomo, PhD, is looking into ways to improve the alpha-synuclein SAA test. Dr. Bellomo is studying whether mucus in the nose can be used to detect SAA, instead of cerebrospinal fluid. Early PD-related alpha-synuclein changes can be found in the olfactory mucosa, which is collected using a swab to scrape the inside of the nose. Dr. Bellomo will compare the results of SAAs and olfactory mucosa collected from people with and without PD. This non-intrusive test would represent a breakthrough in Parkinson's diagnosis, as no such test currently exists.

In addition, he is looking into developing a more clinically useful test that can be reproduced (obtain the same results) in different labs. Lastly, Dr. Bellomo and his team are also developing a way to utilize SAA’s to measure the amount of abnormal alpha-synuclein and how it correlates with movement and non-movement symptoms. The first results of Dr. Bellomo studies were published on April 1, 2023. Learn more about this current study. 

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

Although alpha-synuclein seed amplification assay may be available through a doctor’s office, it is not yet a standard of care and it does not change how doctors diagnose and treat PD. Questions remain about interpreting the results, especially for people who have may genetic forms of PD or do not yet show symptoms of PD. Therefore, it will require additional research and time before the test could become useful as part of routine care. In addition, the test is not covered by medical insurance and is cost prohibitive. Nevertheless, studies like this one are an important step toward allowing the medical research field to establish a test that can help doctors diagnose and track disease progression.

Learn More

The Parkinson’s Foundation believes in empowering the Parkinson’s community through education. Learn more about PD and the topics in this article through 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.

• Podcast Episode 59: Understanding Biomarkers to Deliver Precise Treatments
• Protein May Hold Clues to Development of Parkinson’s

More than 10,000 neurology professionals gathered to learn the latest in research and treatments at the American Academy of Neurology Annual Meeting in Boston, MA. This year, the Parkinson’s Foundation hosted a presentation and shared two posters in research and care. Notably, the Foundation’s PD GENEration: Mapping the Future of Parkinson’s study received special distinction and was selected as an oral presentation as part of the session on Movement Disorders Genetics and Risk.

1.  Screening and Treatment of Depression in Parkinson's Disease Within Movement Disorders Centers

It is estimated that 50% of people with Parkinson’s experience depression. Regularly screening for depression among people with PD can help identify untreated depression and prompt treatment. In this new study using data from our Parkinson’s Outcomes Project, we studied whether offering a systematic screening for depression (including the use of the Geriatric Depression Scale (GDS-15)), can help improve quality of life.

Study takeaways:

• Five Centers of Excellence began providing depression screening, diagnosis and treatment practices, and evaluated them through medical record reviews.
• During the implementation phase, when the formal screening rates where all done with a validated screening instrument (GDS-15) it was found that 68% of people with Parkinson’s reported symptoms of depression across the five sites.
• Prior to offering a systematic depression screening, screening rates for depression ranged anywhere from 56 to 92%, but only 14% used a validated screening instrument.
• Systematic screening for depression will help improve the standard of care and quality of life by educating clinicians and people with PD.

VIEW THE POSTER

Authors: James C. Beck, PhD, Janis Miyasaki, MD,FAAN, Connie C. Marras, MD, Nabila Dahodwala, MD,FAAN, Kelly A. Mills, MD, Meredith Spindler, MD,FAAN, Daniel Weintraub, Eugene Nelson, Sneha Mantri, MD, Amy Brown, MD, Anna Naito, PhD, Zachary Meyer, Allison Marie Allen, Marilyn Neault, PhD

2.  Frequency of Known Genetic Variants for Parkinson’s Disease in the PD GENEration Study Cohort

This presentation assessed the prevalence of genetic variants for PD through the Parkinson’s genetics study, PD GENEration. Widespread genetic testing will help inform previously unsuspected individuals with PD that they have a genetic mutation in one of the seven major genes known for PD, and ultimately qualify more people for enrollment in genetic-based PD clinical trials.

Study takeaways:

• PD GENEration genetic testing shows that among participants, ~13% have a genetic variant linked to Parkinson’s.
• Although reportable variants were more likely to be found in those with either young-onset PD high-risk ancestry or a positive family history, 8% of those without these features had a genetic variant for PD.

Authors: James Beck, Kamalini Ghosh Galvelis, Martha Nance, Anna Naito, Niccolo Mencacci, Ignacio Mata, Anne Hall, Jeanine Schulze, Rayza Priscila Hodges, Anne Marie Wills, Michael Schwarzschild, Karen Marder, Tanya Simuni, Mandy Miller, Jennifer Verbrugge, Lola Cook, Laura Heathers, Michelle Totten, Tatiana Foroud, Roy Alcalay

3. Outpatient Palliative Care for Parkinson’s Disease: Results from a National Survey

Palliative care, also known as supportive care, addresses physical, social, emotional and spiritual needs to improve the quality of life for a person with Parkinson’s and their family. Emerging evidence also shows that receiving palliative care improves patient and family-centered outcomes. However, little is known about the availability of resources and current practices among physicians in addressing palliative care needs in their clinics. The goal of this study is to describe the current availability of outpatient palliative care for people with Parkinson’s and their care partners at 33 US Parkinson’s Foundation Centers of Excellence.

Study takeaways:

• A survey was sent to 665 healthcare professionals across 33 Centers of Excellence in the U.S.
• Survey results show that among doctors:
  • 58% use a screening tool to assess non-movement symptoms
  • 6% report managing pain
  • 44% report managing depression and anxiety
  • 15% screen for grief, guilt and additional spiritual concerns
  • 4% report they discuss and review advance care planning documentation
• Many physicians are currently assessing and managing important palliative care needs for their patients with room for improvement in certain key components.
• Non-movement symptom screening is a more utilized palliative care component while referral to hospice when appropriate and discussing advanced care planning are reported less.

view the pOSTER

Authors: Kei Sugiura, MD; Umer Akbar, MD; Sandhya Seshadri, PhD, MA, MS; Megan Dini, MA; Peggy Auinger, MS; Sally A. Norton, PhD, RN; Jodi Summers Holtrop, PhD;  Benzi M. Kluger, MD, MS

Stay up to date with the latest Parkinson’s Foundation programs, research and happenings in our Parkinson’s Today blog.

Ekhlas Assaedi, MD, is passionate about movement disorders, specifically Parkinson’s disease (PD), and providing patient-centered care that leads to improved quality of life for people living with the disease.

After attending medical school at Taibah University, Saudi Arabia, Dr. Assaedi completed her neurology residency at the University of Alberta, Canada. She is currently in the first year of a two-year Institutional Movement Disorder (IMDS) Fellowship at the Cleveland Clinic, where she is working to further develop her skills in research methodology and treat patients using the latest approaches, like deep brain stimulation (DBS).

Dr. Assaedi is the first recipient of the Parkinson's Foundation Wesley G. McCain MDS Fellowship in Honor of Dr. Lucien Cote. We spoke to Dr. Assaedi about her exciting work in the PD field, and why she believes it is important to foster young doctors who have both clinical expertise and research exposure.

What led you to Parkinson’s research?

I knew I was interested in building a career in movement disorders in my second year of neurology residency. I’ll always be grateful to the movement disorders staff at the University of Alberta for inspiring that interest. We had such an active group of movement disorders specialists who took a great interest in residents’ education.

“There is so much work to do in this field, so much to learn and so many unanswered questions.”

Parkinson’s disease and idiopathic dystonia stuck out to me as the epitome of why movement disorders are interesting and important to study because of the heterogeneity of their genetic and presumed pathophysiological mechanisms, which translates to varied clinical presentations in different patients. There is so much work to do in this field, so much to learn and so many unanswered questions.

Can you tell us about your current work at the Cleveland Clinic?

I’m currently in the first year of my two-year clinical fellowship at the Cleveland Clinic, a Parkinson’s Foundation Center of Excellence. This first year is spent learning about the clinical aspects of care for Parkinson’s patients and other movement disorder patients. So, I’m learning all the basics of diagnosis, management and really applying what I learned in residency in day-to-day care. In my second year, I will tailor my experience to focus on my interests, which is a combination of deep brain stimulation work as well as clinical research.

What interests you about deep brain stimulation, and are you currently participating in DBS programming?

One of my first exposures to movement disorders was attending DBS programming clinics. I remember in one of my first encounters with a person with Parkinson’s who had DBS, I was impressed by the impact it had on managing his symptoms. That particular person was a violinist who missed playing but was unable to because of his tremors. After DBS, he was able to play again, which greatly improved his quality of life.

Currently, in my fellowship, I participate in pre-surgical DBS evaluation clinics, where I assess patients who are interested in this kind of treatment and evaluate their candidacy for DBS. I also meet with the multidisciplinary team involved in DBS surgery, which conducts regular DBS patient management meetings to make collaborative decisions about candidacy and care. I’ve also learned the basics of programming for various conditions, including essential tremors, Parkinsonism and dystonia. In my second year, I’m hoping to learn more about intraoperative neurophysiologic monitoring.

How do you see your work and research improving the lives of people with PD?

Right now, I am trying to learn as much as I can and I’m working to define a research need I’d like to focus on. My hope is that by the end of my fellowship, I will have mastered more of the art of patient-centric care, including mastering the different therapeutic options and working with patients to identify their goals, concerns and preferences to help them choose treatment options that best address their needs. Patient encounters are my greatest motivator. I want to focus on research that is meaningful and will lead to better outcomes for my patients.

Why is it important to support young clinicians/researchers?

Looking back at the start of my studies, I appreciate how important it is for movement disorder specialists to be involved in medical students’ and residents’ education. There’s a growing need for movement disorder specialists, especially with the aging population and the growing incidence of Parkinson’s disease.

We need all of the young neurologists we can find, both well-qualified general neurologists and more movement disorders specialists. I hope that one day I can inspire other young learners, like my professors inspired me to enter this field.

How has this fellowship impacted your career and your plans?

This fellowship is an incredible opportunity. I feel so fortunate for the excellent training I’m receiving at the Cleveland Clinic, and to learn from so many experienced clinicians and researchers, while utilizing all the technological resources available to me here. My fellowship has already allowed me to meet so many different patients, giving me a wider exposure to different presentations of Parkinson’s.

Organizations like the Parkinson’s Foundation are providing invaluable services to both people with Parkinson’s and medical providers. The landscape of Parkinson’s care and research would look completely different without the Foundation’s efforts. Their support of residents and fellows, like me, is an important service to the PD community and I’m so grateful.

Find a movement disorders specialist in your area at Parkinson.org/InYourArea or call the Parkinson's Foundation Helpline at 1.800.4PD.INFO (1-800-473-4636).

April is Parkinson’s Awareness Month, a time when the Parkinson’s community comes together to raise awareness for Parkinson’s disease (PD). Our new incidence study found that every 6 minutes, someone will be diagnosed with Parkinson’s in the U.S.

This month, we want everyone to #Take6forPD — take 6 minutes to help us raise Parkinson’s awareness. There are many ways you can raise awareness, such as participating in research, finding expert care or educating your community about PD.

Read on to learn how you can #Take6forPD:

#Take6forPD to Advance Research

In the U.S., 90,000 people will be diagnosed with Parkinson’s disease this year. Take 6 minutes to help us advance PD research aimed to improve treatments and find a cure.  

• Register to participate in PD GENEration: Mapping the Future of Parkinson’s Disease. Our international genetics study offers genetic testing for PD-related genes and genetic counseling at no cost for people with Parkinson’s.
• Watch a Neuro Talk video. Learn about the latest in PD research from PD research experts.
• Join a research study. Explore the different opportunities to get involved with Parkinson’s research.
• Donate to our Parkinson’s Virtual Biotech. Your support helps us invest in new drugs that can deliver life-changing treatments in years, not decades.
• Sign up for an Expert Briefing webinar. Learn more about managing PD symptoms and treatments from PD experts.

SHARE THE CHECKLIST ON SOCIAL MEDIA

#Take6forPD to Improve Access to Care 

Research shows that seeing a Parkinson’s specialist can lead to better outcomes. Take 6 minutes to help improve access to high-quality PD care. 

• Call our free Helpline. Call 1-800-4PD-INFO (1-800-473-4636) to ask a PD question, get a referral or find a nearby exercise class.  
• Find expert care in your area. Enter your zip code to find a medical center near you and your local chapter.  
• Order or download a hospital safety kit. These tools will help you advocate for your best care when hospitalized. 
• Read a PD publication. Browse our free resource library to deep dive into a PD topic that is important to you.
• Register for a PD Health @ Home event. Designed for the PD community, these weekly online events allow you to access at-home resources all year long.

SHARE THE CHECKLIST ON SOCIAL MEDIA

#Take6forPD to Help Empower & Educate

Finding the right information and resources early in the Parkinson’s journey can make life better for people with PD. Take 6 minutes to feel empowered through educational resources. 

• Join our e-mail list. Be the first to know what’s happening in Parkinson’s research and care. 
• Share our PD infographic on Facebook or Instagram. Help us raise awareness that 90,000 people are diagnosed with PD every year in the U.S.
• Register for an educational or local event. Connect with the PD community, either in-person or virtually.
• Subscribe or listen to our podcast. Substantial Matters: Life and Science of Parkinson’s highlights the treatments, techniques and research that can help you live a better life now.
• Complete our 60 Miles in April Facebook Challenge. Join hundreds of others in taking the challenge to bike, run or walk 60 miles this month to raise awareness for Parkinson’s.

SHARE THE CHECKLIST ON SOCIAL MEDIA

No matter how you choose to #Take6forPD this month, know that you are making a difference in the lives of people with Parkinson’s.

Take 6 minutes to help create a world without Parkinson’s at Parkinson.org/Awareness. 

“The Parkinson’s Virtual Biotech initiative is a new, much needed way the Parkinson’s Foundation can directly make targeted investments that can have potentially great impact for people with Parkinson’s today,” said James Beck, PhD, Parkinson’s Foundation Chief Scientific Officer.

Parkinson’s Virtual Biotech is the international drug discovery and development program and joint venture/partnership of the Parkinson’s UK and the Parkinson’s Foundation. This groundbreaking global effort is working to spur the development of life-changing new Parkinson’s disease (PD) treatments in years, not decades.

“These investments can exponentially advance the opportunities for new Parkinson’s medications,” said Dr. Beck. “With the support of our community, this new initiative balances our portfolio of research investments. We can now broaden our research to support every type of research from basic science to clinical studies.”

Today, Parkinson’s Virtual Biotech funds 11 new medications and therapies already in research and development stages. Here are the six new drug development programs that energize us:

1.     Project Galaxy: Addressing Inflammation in Parkinson’s

Stage: In Development

This project aims to find a way to stop harmful inflammation from damaging brain cells. Inflammation is a process that is vital for defending the body against harm from things like infection, injuries and toxins. If inflammation is chronically active when it shouldn’t be — which might be the case in PD — it can cause harm to healthy cells.

Key Takeaway: This project looks to uncover a way to reduce inflammation in the brain, in the hope to protect brain cells. This could pave the way for the design of a drug to help slow or stop the condition.

2.     Project Top Hat: Exploring the potential of ondansetron for treating hallucinations in people with PD or Lewy body dementia

Stage: Clinical Trial

It is estimated that around 75% of people with Parkinson’s experience hallucinations during the course of PD. However, current treatment options are limited. The drug used to alleviate nausea after chemotherapy called ondansetron (brand name Zofran) is being tested as a treatment for visual hallucinations in people with PD or Lewy body dementia.

Key Takeaway: This study is a phase 2 clinical trial with 306 people with PD or Lewy body dementia enrolled. With safety data available from ondansetron’s current use in treating sickness, positive results from this study could see this repurposed medication quickly progress to become an available treatment.

3.     Project Sheffield: Optimizing molecules that restore the power plants of brain cells

Stage: In Development

University of Sheffield researchers are developing molecules that can boost the function of mitochondria (the power plants of brain cells). Over the next 12 months, the team will develop and test the drug-like molecules in cells from people with PD. If successful, the molecules will then move forward into testing, before moving into clinical trials in people with Parkinson’s.

Key Takeaway: This research takes important steps toward creating a drug that can protect dopamine-producing brain cells and slow the progression of PD.

4.     Project Pharmaxis: New treatment aims to relieve PD-like symptoms and target inflammation to slow onset

Stage: Clinical Trial

Inflammation is vital for defending the body against harm from things like infection and toxins. Researchers believe that inflammation may be linked to the causes and progression of Parkinson’s. Pharmaxis is investigating whether a drug called PXS-4728 can reduce inflammation in the early stages of Parkinson’s. This study will enroll 40 people who experience the sleep disorder known as isolated rapid eye movement sleep behavior disorder (iRBD). As many as 70% of people with iRBD go on to develop Parkinson’s.

Key Takeaway: The hope is this drug might be able to slow the onset of Parkinson’s symptoms in this group of people that are at a high risk of developing the condition. This could help find a way to the slow the progression of Parkinson’s.

5.     Project NRG: Targeting the power plants of brain cells to slow the progression of Parkinson’s (I-1903)

Stage: In Development

NRG Therapeutics Ltd is investigating ways to boost the functioning of mitochondria in Parkinson’s. Mitochondria (the power plants of the cell) play an important role in both sporadic and inherited forms of Parkinson’s. The aim of this project is to identify new molecules that can enter the brain and support the mitochondria.

Key Takeaway: If successful, these protective molecules could provide a safe and effective new treatment that will protect brain cells, slow the progression of Parkinson’s and extend quality of life. In 2022, NRG secured additional funding to progress toward clinical trial.

6.     Project Eurofins: Creating new drugs to improve symptoms and slow Parkinson’s

Stage: In Development

Eurofins, a leading contract research company in the UK, is working to create molecules that can increase activity of a selection of genes. Dialing up the activity of these genes has the potential to increase dopamine production and boost the production of protective proteins to slow or halt the damage and loss of precious brain cells.

Key Takeaway: If successful, this could lay the foundation for research into new treatments that could not only improve Parkinson’s symptoms, but also slow, stop or even reverse the underlying condition.

Learn more about all 11 Parkinson’s Virtual Biotech drugs under research and development right now.  

Parkinson’s Foundation community fundraisers raised a record-breaking $8.3 million to advance Parkinson’s disease (PD) research, access to care and life-changing resources in 2022.

“Each of the 15,905 people with Parkinson’s, family members and friends who helped raise funds in 2022 brought passion and enthusiasm to the entire PD community,” said Kayln Henkel,

Parkinson’s Foundation Senior Vice President and Chief Development Officer.

Parkinson’s Champions, Moving Day participants, Revolution riders and volunteers help us fund critical research that brings hope to the one million Americans living with this disease. Meet four fundraisers and volunteers who inspire us:

Amanda Hosts Meaningful Parkinson’s Revolution for Her Dad

“When my dad was first diagnosed, the unknown was the biggest struggle. We worked so hard to make this a big fundraiser — a simple, fun thing for people to join, and it means so much to the people Parkinson’s affects directly.”

KEEP READING

Jim Helps Make First-Ever Moving Day Memphis a Success

“Since I was diagnosed with Parkinson’s, I’ve developed a whole new group of friends and found supportive people I can talk to any time. Moving Day is a great way to spend time with people in our community.”

KEEP READING

High School Senior Kaden Raises $31,000 for PD Research

“I chose this fundraiser because I wanted to learn more about what my uncle was going through and raise money to help people like him living with Parkinson’s, and to support research for a cure. I never thought a T-shirt could raise this much awareness, and I’m happy I could raise this much money for the Foundation.”

KEEP READING

Moving Day Empowers Samantha to Fight Parkinson’s

“While volunteering at Moving Day packet pick-up, I met someone who was diagnosed a month ago and wasn’t sure where to turn. We were able to introduce him and his wife to other people his age who have Parkinson’s, and I could just see the relief they felt meeting people who understood what they were going through. Those connections are so important and seeing them happen is my favorite part of Moving Day.”

KEEP READING

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