Genetic Registry for Parkinson's Disease

Recruiting at 58 trial locations

Overseen By David Simon, MD

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Parkinson's Foundation

Disqualifiers: Atypical parkinsonian disorders, Hematologic malignancies, others

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

Compensation: Varies

Number of Visits: Unknown

25000 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to create a central database of genetic information related to Parkinson's Disease (PD) to aid future research. It focuses on collecting genomic data from individuals with a probable PD diagnosis to better understand the genes involved. Participants will undergo genetic testing and can choose to learn about their results for specific PD-related genes. This trial suits those who meet the clinical criteria for Parkinson's Disease and are willing to participate in genetic testing.

As an unphased trial, this study offers participants the chance to contribute to groundbreaking research that could shape future PD treatments.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications.

What prior data suggests that this genetic registry is safe for participants?

Research has shown that genetic registries, such as the Parkinson's Foundation PD GENEration Genetic Registry, are generally safe. They primarily involve collecting genetic information, which poses no physical risks. No reports of problems have emerged, as the process only requires a saliva or blood sample. Participants might feel a small pinch from a blood draw, but this is normal and not specific to this registry. Overall, the procedure is well-tolerated and considered low risk.

Why are researchers excited about this trial?

Researchers are excited about the PD GENEration Genetic Registry because it focuses on understanding the genetic factors involved in Parkinson's disease, rather than directly offering a new treatment. While most current treatments for Parkinson's mainly manage symptoms, this registry aims to pinpoint genetic variations that could lead to more personalized and effective therapies in the future. By identifying these genetic markers, researchers hope to unlock new pathways for treatment development and improve patient outcomes by tailoring interventions to individual genetic profiles.

What evidence suggests that this genetic registry is effective for Parkinson's Disease research?

Research has shown that genetics play a significant role in Parkinson's disease. Although the PD GENEration Genetic Registry does not directly treat the disease, it aids researchers in understanding the genetic factors involved. This understanding can lead to better treatments in the future. Currently, scientists use this genetic information to identify new targets for therapies. The registry represents a step toward personalized medicine, where treatments are tailored to an individual's genetic makeup. Exploring these genetic links can enhance the treatment of Parkinson's disease over time.

Who Is on the Research Team?

Roy N Alcalay, MS, MD

Principal Investigator

Tel Aviv Sourasky Medical Center, Columbia University Irving Medical Center

James Beck, PhD

Principal Investigator

Parkinson's Foundation

Are You a Good Fit for This Trial?

This trial is for adults with a probable diagnosis of Parkinson's Disease who are willing to undergo genetic testing and can give informed consent. They should be able to complete surveys and may include family members if additional genetic confirmation is needed. It excludes those under 18, recent bone marrow transplant or blood transfusion recipients, and individuals with atypical parkinsonian disorders or active blood cancers.

Inclusion Criteria

Study Population 1: PWP (open for recruitment)

Study Population 2: People at risk of developing PD (not open for recruitment)

My family may join the study if genetic testing is needed.

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 had a bone marrow transplant within the last 5 years.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Genetic Testing and Counseling

Participants undergo genetic testing and receive counseling to learn about their genetic mutation status

6 months

Data Repository Development

Participants' genomic data and residual DNA are deposited into a central repository for future research

6 months

Follow-up

Participants are monitored for safety and effectiveness after genetic testing and counseling

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• Parkinson's Foundation PD GENEration Genetic Registry

Trial Overview The study aims to create a central database by collecting genomic data from participants related to Parkinson's Disease. This registry will support future research on the genetics of Parkinson’s Disease by analyzing genes like GBA, LRRK2, SNCA, VPS35, PRKN, PINK-1, PARK7.

Who Is Running the Clinical Trial?

Parkinson's Foundation

Lead Sponsor

Trials

13

Recruited

1,030,000+

Parkinson's Study Group

Collaborator

Trials

1

Recruited

25,000+

Indiana University

Collaborator

Trials

1,063

Recruited

1,182,000+

Fulgent Genetics

Collaborator

Trials

1

Recruited

25,000+

The Parkinson Study Group

Collaborator

Trials

17

Recruited

32,500+

Published Research Related to This Trial

In a large UK study of 2262 participants, 1.4% were found to carry pathogenic mutations related to genetic Parkinson's disease, with notable mutations in LRRK2, PRKN, and PINK1, indicating a significant genetic component in this population.

Young-onset patients with PRKN and PINK1 mutations exhibited distinct clinical features, such as more postural symptoms and less cognitive impairment, suggesting that these genetic factors could influence the progression and presentation of Parkinson's disease.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study. Tan, MMX., Malek, N., Lawton, MA., et al.[2021]

Significant progress has been made in identifying genetic factors associated with Parkinson's disease (PD), including highly-penetrant mutations in genes like SNCA, LRRK2, and Parkin that cause rare forms of the disease.

Recent advances have highlighted specific mutations, such as VPS35 in autosomal dominant PD and DNAJC6 and SYNJ1 in recessive juvenile parkinsonism, but many genetic determinants remain unidentified, indicating that new sequencing technologies may help uncover more about PD's genetic landscape.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetics of Parkinson's disease--state of the art, 2013. Bonifati, V.[2022]

The MDSGene initiative, launched in 2016, has compiled over 1150 genetic variants from approximately 5700 movement disorder patients, providing a valuable resource for understanding monogenic forms of Parkinson's disease (PD) and aiding in genetic counseling and research.

Despite its extensive database, MDSGene faces challenges such as the need for refined criteria for causative gene designation, significant clinical data gaps, and the limitation of only capturing published data, highlighting the need for further expansion to include unpublished cases.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease. Klein, C., Hattori, N., Marras, C.[2023]

The discovery of alpha-synuclein mutations as the first genetic cause of Parkinson's disease (PD) has led to the identification of several other Mendelian mutations, including those in the parkin, DJ-1, PINK1, LRRK2, and ATP13A2 genes, highlighting the genetic complexity of PD.

Low-penetrance mutations, particularly the LRRK2 Gly2019Ser variant, along with polymorphic variants in alpha-synuclein and LRRK2, are becoming important genetic factors for sporadic PD, indicating that understanding these genetic influences is crucial for future research.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetics of parkinsonism. Bonifati, V.[2021]

Research has identified over 13 genetic loci and 9 genes associated with Parkinson's disease (PD), with mutations in the alpha-synuclein (SNCA) and leucine-rich repeat kinase 2 (LRRK2) genes being significant contributors to both familial and sporadic forms of the disease.

Future research aims to uncover more genetic factors influencing PD, including susceptibility variants and gene-environment interactions, which could enhance our understanding of the disease and lead to better prevention and treatment strategies.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Parkinson's disease: from monogenic forms to genetic susceptibility factors. Lesage, S., Brice, A.[2022]

In a study of 504 nuclear families comprising 2828 individuals, researchers found that about 40% of the risk for developing Parkinson's disease (PD) is attributed to unidentified genetic factors, after accounting for known genes.

The heritability estimate of 0.41 indicates that while genetics play a significant role in PD susceptibility, environmental factors also contribute to the risk of the disease.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The heritability of risk and age at onset of Parkinson's disease after accounting for known genetic risk factors. Hamza, TH., Payami, H.[2022]

A global network of 59 research sites has been established to study monogenic Parkinson's disease (PD), addressing the significant knowledge gap in underrepresented populations, as most existing data is from individuals of European White ancestry.

This initiative includes the development of an interactive online tool to facilitate collaboration and resource sharing among researchers, which is expected to enhance the development and testing of new therapies for both monogenic and idiopathic PD patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project. Vollstedt, EJ., Madoev, H., Aasly, A., et al.[2023]

In a study of 262 Parkinson's disease patients, GBA mutations were found in 3.5% of cases, indicating a significant genetic contribution to the disease in the community.

GBA mutation carriers showed a significantly higher risk of progressing to severe motor disability and dementia, with hazard ratios of 4.2 and 5.7 respectively, suggesting that GBA status could serve as a prognostic marker for disease progression.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Winder-Rhodes, SE., Evans, JR., Ban, M., et al.[2022]

Patients with genetic forms of Parkinson's disease (PD) have been followed for over 20 years, revealing distinct prognoses that differ from sporadic cases, highlighting the importance of genetic factors in disease progression.

Emerging therapies may be tailored to the specific genetic causes of PD, suggesting a future where treatment is personalized based on an individual's genetic background and the biological effects of their specific mutations.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Long-Term Outcomes of Genetic Parkinson's Disease. Aasly, JO.[2020]

Genetic factors play a significant role in the development of Parkinson's disease (PD), with specific mutations in genes like SNCA, Parkin, and LRRK2 linked to rare, monogenic forms of the disease, while other variants increase risk in certain populations.

Despite the identification of these genetic risk factors, no effective treatments have emerged from this research, highlighting the need for further studies to understand the biological effects of these variants and their implications for PD therapy.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance. Hernandez, DG., Reed, X., Singleton, AB.[2022]

Citations