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Parkinson's Disease G2019S LRRK2 Genetic Testing Program

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04919356
Recruitment Status : Terminated (Sponsor stopped the study)
First Posted : June 9, 2021
Last Update Posted : January 18, 2023
Sponsor:
Collaborators:
Engage Health Inc.
Sano
Information provided by (Responsible Party):
Escape Bio, Inc.

Study Description
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Brief Summary:
Increase awareness of the G2019S LRRK2 mutation in Parkinson's and no cost genetic testing program.

Condition or disease Intervention/treatment
Parkinson's Disease Genetic: G2019S LRRK2

Detailed Description:
This program is intended to increase awareness of genetic Parkinson's, in particular the G2019S LRRK2 mutation, and provide no cost genetic testing to determine if they carry the G2019S LRRK2 mutation.
Study Design
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Study Type : Observational
Actual Enrollment : 836 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: G2019S LRRK2 Parkinson's Disease: Increasing Awareness and Genetic Testing Program
Actual Study Start Date : June 8, 2021
Actual Primary Completion Date : December 5, 2022
Actual Study Completion Date : December 5, 2022

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Intervention Details:
  • Genetic: G2019S LRRK2
    No cost genetic testing for G2019S LRRK2

Outcome Measures
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Primary Outcome Measures :
  1. Identify Parkinson's patients with the G2019S mutation in their LRRK2 gene [ Time Frame: 2 years ]
    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.


Secondary Outcome Measures :
  1. Understand the proportion of Parkinson's patients who have a G2019S LRRK2 mutation [ Time Frame: 2 years ]
    To obtain information about the proportion of Parkinson's patients who have a G2019S LRRK2 mutation.

  2. Increase awareness of the importance of genetic testing in Parkinson's disease [ Time Frame: 2 years ]
    To increase healthcare provider and patient awareness of the importance of genetic testing in Parkinson's disease in order to be aware of potential eligibility for clinical studies of genetic targeted medicines.

  3. Increase interest of healthcare providers and patients participation in clinical trials [ Time Frame: 2 years ]
    To engage healthcare providers and patients' interest in participation in upcoming clinical studies.


Biospecimen Retention:   Samples With DNA
Data generation using next-generation sequencing (NGS) of human exons

Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
A clinical diagnosis of Parkinson's disease
Criteria

Participants include those with a clinical diagnosis of Parkinson's, in particular those who have a first- or second-degree relative with Parkinson's, or who have young onset Parkinson's (age less than 50 at diagnosis) or are of Ashkenazi Jewish or North African Berber descent, or have a relative with a known genetic mutation in the LRRK2 gene, or who have a genetic mutation in the LRRK2 gene.

Inclusion Criteria:

Participant eligible for enrollment in the program must meet all of the following criteria:

  1. Participant must be a person diagnosed with Parkinson's disease who is 18 years or older.
  2. Participant is under the care of a physician for their Parkinson's disease.
  3. Participant is able to read, write and understand English, and reside in a country where the shipment of biological samples is allowed.
  4. Participant is able to grant informed consent.
  5. In the case of participants, willing to participate in a free genetic testing program to determine if they carry the G2019S LRRK2 mutation.
  6. Willing to be notified of eligibility for clinical studies (if appropriate).
  7. 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.

Exclusion Criteria:

  1. Inability to meet any of the inclusion criteria.
  2. 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.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04919356


Locations
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United States, Kentucky
Eurofins Genomic LLC
Louisville, Kentucky, United States, 40299
Sponsors and Collaborators
Escape Bio, Inc.
Engage Health Inc.
Sano
Investigators
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Study Chair: Carrolee Barlow, MD, PhD ESCAPE Bio
More Information
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Publications of Results:

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Responsible Party: Escape Bio, Inc.
ClinicalTrials.gov Identifier: NCT04919356    
Other Study ID Numbers: G2019S-001
First Posted: June 9, 2021    Key Record Dates
Last Update Posted: January 18, 2023
Last Verified: August 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Escape Bio, Inc.:
G2019S LRRK2 Mutation
Young Onset
Genetic
Ashkenazi Jewish Descent
North African Berber
Additional relevant MeSH terms:
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Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
 Nervous System Diseases
Movement Disorders
Synucleinopathies
Neurodegenerative Diseases