Parkinson's Disease
Conditions
Keywords
G2019S LRRK2 Mutation, Young Onset, Genetic, Ashkenazi Jewish Descent, North African Berber
Brief summary
Increase awareness of the G2019S LRRK2 mutation in Parkinson's and no cost genetic testing program.
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.
Interventions
GENETICG2019S LRRK2
No cost genetic testing for G2019S LRRK2
Sponsors
Engage Health Inc.
Sano
Escape Bio, Inc.
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identify Parkinson's patients with the G2019S mutation in their LRRK2 gene | 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
| Measure | Time frame | Description |
|---|---|---|
| Understand the proportion of Parkinson's patients who have a G2019S LRRK2 mutation | 2 years | To obtain information about the proportion of Parkinson's patients who have a G2019S LRRK2 mutation. |
| Increase awareness of the importance of genetic testing in Parkinson's disease | 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. |
| Increase interest of healthcare providers and patients participation in clinical trials | 2 years | To engage healthcare providers and patients' interest in participation in upcoming clinical studies. |
Countries
United States
Outcome results
None listed