Clinical trial NCT04919356: Parkinson's Disease G2019S LRRK2 Genetic Testing Program
Official title: G2019S LRRK2 Parkinson's Disease: Increasing Awareness and Genetic Testing Program
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Parkinson's Disease
Keywords: G2019S LRRK2 Mutation
Young Onset
Genetic
Ashkenazi Jewish Descent
North African Berber
Lead sponsor: Escape Bio, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Engage Health Inc.
name: Sano
First posted: 2021-06-09
Enrollment: 836
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: A clinical diagnosis of Parkinson's disease

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.

Eligibility 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.

Primary outcomes:
measure: Identify Parkinson's patients with the G2019S mutation in their LRRK2 gene
timeFrame: 2 years
Secondary outcomes:
measure: Understand the proportion of Parkinson's patients who have a G2019S LRRK2 mutation
timeFrame: 2 years
measure: Increase awareness of the importance of genetic testing in Parkinson's disease
timeFrame: 2 years
measure: Increase interest of healthcare providers and patients participation in clinical trials
timeFrame: 2 years
Other outcomes:
Locations:
city: Louisville
country: United States
facility: Eurofins Genomic LLC
state: Kentucky
Study officials:
affiliation: ESCAPE Bio
name: Carrolee Barlow, MD, PhD
role: STUDY_CHAIR
References:
citation: 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.