Parkinson's Disease G2019S LRRK2 Genetic Testing Program

NCT04919356 | Terminated

• 1 other identifier: G2019S-001
• Study Type: observational
• Target: 836
• Locations: 1 country
• Sites: 1

Brief Summary

Increase awareness of the G2019S LRRK2 mutation in Parkinson's and no cost genetic testing program.

Conditions

Parkinson's Disease

Keywords

G2019S LRRK2 Mutation; Young Onset; Genetic; Ashkenazi Jewish Descent; North African Berber

Outcome Measures

Primary Outcomes (1)

• Identify Parkinson's patients with the G2019S mutation in their LRRK2 gene

  To identify Parkinson's patients with the G2019S mutation in their LRRK2 gene through whole exome sequencing in order to support the development of an oral precision medicine.

  2 years

Secondary Outcomes (3)

• Understand the proportion of Parkinson's patients who have a G2019S LRRK2 mutation

  2 years

• Increase awareness of the importance of genetic testing in Parkinson's disease

  2 years

• Increase interest of healthcare providers and patients participation in clinical trials

  2 years

Interventions

G2019S LRRK2 GENETIC

No cost genetic testing for G2019S LRRK2

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

A clinical diagnosis of Parkinson's disease

You may qualify if:

• Participant eligible for enrollment in the program must meet all of the following criteria:
• Participant must be a person diagnosed with Parkinson's disease who is 18 years or older.
• Participant is under the care of a physician for their Parkinson's disease.
• Participant is able to read, write and understand English, and reside in a country where the shipment of biological samples is allowed.
• Participant is able to grant informed consent.
• In the case of participants, willing to participate in a free genetic testing program to determine if they carry the G2019S LRRK2 mutation.
• Willing to be notified of eligibility for clinical studies (if appropriate).
• Particpants who already believe they have tested positive for the mutation will be allowed to be retested through this program and be notified of potential eligibility for studies.

You may not qualify if:

• Participant has received on of the following advanced treatments to manage their Parkinson's: gene therapy, deep brain stimulation (DBS), injections into the brain, continuous infusion of medication into their stomach/intestines with a pump.

Sponsors & Collaborators

• Escape Bio, Inc.: lead
• Engage Health Inc.: collaborator
• Sano: collaborator

Study Sites (1)

Eurofins Genomic LLC

Louisville, Kentucky, 40299, United States

Location

Related Publications (1)

• Bright JM, Carlisle HJ, Toda AMA, Murphy M, Molitor TP, Wren P, Andruska KM, Liu E, Barlow C. Differential Inhibition of LRRK2 in Parkinson's Disease Patient Blood by a G2019S Selective LRRK2 Inhibitor. Mov Disord. 2021 Jun;36(6):1362-1371. doi: 10.1002/mds.28490. Epub 2021 Feb 11.

  PMID: 33836114 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Data generation using next-generation sequencing (NGS) of human exons

MeSH Terms

Conditions

Parkinson Disease

Condition Hierarchy (Ancestors)

Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases

Study Officials

• Carrolee Barlow, MD, PhD

  ESCAPE Bio

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 4, 2021
• First Posted: June 9, 2021
• Study Start: June 8, 2021
• Primary Completion: December 5, 2022
• Study Completion: December 5, 2022
• Last Updated: January 18, 2023

Record last verified: 2022-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)