Genetic Testing for Parkinson's Disease

(PDGENE Trial)

Not currently recruiting at 12 trial locations

Overseen By Jill Goldman, CGC

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Parkinson's Foundation

Disqualifiers: Atypical parkinsonian disorder, Blood transfusion, Hematologic malignancies, Bone marrow transplant, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 1

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores the use of genetic testing to help people with Parkinson's disease better understand their condition. It aims to assess the usefulness and satisfaction of genetic testing when included in routine care. Participants will join one of two groups, each providing genetic counseling either through a local site or a centralized group. Individuals diagnosed with Parkinson's, willing to learn about their genetic results, and able to complete study activities might be a good fit. As an unphased trial, this study offers participants the chance to contribute to valuable research that could enhance future Parkinson's care.

Do I need to stop my current medications for the trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

What prior data suggests that CLIA certified genetic testing is safe for people with Parkinson's disease?

Research shows that CLIA-certified genetic testing is safe for people with Parkinson's disease. Studies have found that individuals handle this testing well. It involves taking a DNA sample to identify gene changes linked to Parkinson's.

No serious side effects have been reported from the testing itself, as the process resembles a routine medical test where a sample, like blood or saliva, is collected. The goal is to learn more about the condition, not to alter anything in the body.

Doctors already use this testing in their practice to better understand Parkinson's, indicating it is safe for regular use. Those considering joining a trial for this testing can feel confident about its safety based on current research. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about genetic testing for Parkinson's disease because it could provide personalized insights that current treatments don't offer. Unlike standard medications like levodopa or dopamine agonists, which aim to alleviate symptoms, genetic testing can identify specific genetic mutations linked to Parkinson's, allowing for more tailored treatment plans. Additionally, the trial is exploring two distinct approaches to genetic counseling—site-based and centralized—potentially improving accessibility and support for patients receiving their genetic results. This could lead to better-informed patients and caregivers, ultimately enhancing disease management strategies.

What evidence suggests that this trial's genetic counseling methods could be effective for Parkinson's disease?

Research has shown that genetic testing for Parkinson's disease can identify certain genetic changes in about 5% to 15% of cases. This testing might help some people understand their genetic risk for developing Parkinson's. However, it does not diagnose the disease or predict the exact likelihood of developing it. In this trial, participants will receive genetic counseling either through a site-based approach or a centralized genetic counseling group. Many participants find learning about their genetic information helpful, as it can assist in making personal decisions. While not conclusive for everyone, genetic testing can offer useful insights into the genetic risks associated with Parkinson's. ^{2 6 7 8 9}

Who Is on the Research Team?

Roy N Alcalay, MD, MS

Principal Investigator

Columbia University

Are You a Good Fit for This Trial?

This trial is for people with a probable diagnosis of Parkinson's Disease who can consent to the study, complete surveys, and are willing to undergo genetic testing. They must understand the language of the informed consent. Those with blood cancers, recent bone marrow transplants or blood transfusions, or atypical parkinsonian disorders cannot participate.

Inclusion Criteria

I can complete study tasks, whether online, in-person, or on paper.

I understand the study details and have signed the consent forms.

Individuals must speak and understand the language of the informed consent

Exclusion Criteria

I have been diagnosed with a rare form of Parkinson's disease.

I have received a blood transfusion in the last 3 months.

I have an active blood cancer like lymphoma or leukemia.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Genetic Testing and Counseling

Participants receive CLIA certified genetic testing and genetic counseling either through the enrolling site or a centralized group at Indiana University

up to 24 weeks

1 visit for genetic counseling

Follow-up

Participants are monitored for satisfaction, feasibility, and impact of genetic testing and counseling

up to 6 months

Long-term Follow-up

Participants' enrollment in precision medicine trials is tracked

up to 12 months

What Are the Treatments Tested in This Trial?

Interventions

• CLIA certified genetic testing

Trial Overview The trial is offering certified genetic testing for seven specific gene variants linked to Parkinson's Disease as part of clinical care. It aims to evaluate how feasible and satisfying this process is for participants.

How Is the Trial Designed?

Group I: Site-Based Genetic Counseling Active Control 1 Intervention

Participants randomized to this arm will receive genetic counseling for genetic results through the enrolling site.

Group II: Centralized Genetic Counseling Active Control 1 Intervention

Participants randomized to this arm will receive genetic counseling for genetic results through a centralized genetic counseling group at Indiana University.

Who Is Running the Clinical Trial?

Parkinson's Foundation

Lead Sponsor

Trials

13

Recruited

1,030,000+

University of Rochester - CHeT/CTCC

Collaborator

Trials

1

Recruited

2,000+

Fulgent Laboratories

Collaborator

Trials

1

Recruited

2,000+

The Parkinson Study Group

Collaborator

Trials

17

Recruited

32,500+

Indiana University

Collaborator

Trials

1,063

Recruited

1,182,000+

Navitas Clinical Research, Inc

Collaborator

Trials

4

Recruited

2,300+

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC8633166/

The Commercial Genetic Testing Landscape for Parkinson's ... We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories.

2. neurology.org neurology.org/doi/10.1212/NXG.0000000000200213

Global Perspectives on Returning Genetic Research ... Currently, the yield of genetic testing in PD in most settings is ∼5%–15%, depending on the population studied and the platform used (most commonly targeted ...

3. clinicaltrials.gov clinicaltrials.gov/study/NCT04057794

PDGeneration: Mapping the Future of Parkinson's Disease The purpose of this study is to evaluate how offering Clinical Laboratory Improvement Amendments (CLIA) certified genetic testing for Parkinson's Disease (PD) ...

4. parkinson.org parkinson.org/blog/science-news/genetic-testing

Navigating the World of Genetic Testing Genetic testing helps estimate the risk of developing Parkinson's, but it is not a diagnosis and cannot provide your probability for developing ...

5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11511990/

Participant-reported personal utility of genetic testing for ... Our results suggest that participants find personal utility in genetic testing regardless of results. Although participants may be interested in ...

6. parkinson.org parkinson.org/sites/default/files/documents/PDGENE_Protocol_2024.pdf

PD GENEration Protocol_V4.0_1March2024_Clean (002) Improvements Amendment (CLIA)-certified genetic testing laboratory to extract DNA and identify the presence of genetic variants in genes.

7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11292896/

Parkinson's disease variant detection and disclosure: PD ... Our results provide compelling data to suggest that genetic testing should not be restricted to high-risk individuals, but rather should be ...

8. neurology.org neurology.org/doi/10.1212/WNL.0000000000203590

Frequency of Known Genetic Variants for Parkinson's ... This multi-center observational study provides genetic counseling and CLIA-certified genetic testing for PWP in the U.S., Canada and the Dominican Republic. DNA ...

9. medrxiv.org medrxiv.org/content/10.1101/2025.07.29.25332392.full.pdf

Change in movement disorder specialist attitudes to ... Purpose: Despite advances in recent years, genetic testing for Parkinson's disease (PD) is still underutilized in clinical practice.