A Natural History Study of Patients With G2019S LRRK2 Parkinson's Disease

NCT05349019 | Terminated

• 1 other identifier: ESBG2019S-001
• Study Type: observational
• Target: 22
• Locations: 1 country
• Sites: 1

Brief Summary

To characterize using a participant centered decentralized (at home) study featuring wearable technology and telemedicine to study disease change over time in patients with PD caused by the G2019S mutation in the LRRK2 gene and to identify a clinical endpoint(s) for disease modifying experimental therapy trials.

Conditions

Patients With Parkinson's Disease (PD) Caused by the p.Gly2019Ser (G2019S) Pathogenic Mutation of the Leucine-Rich Repeat Kinase 2 (LRRK2) Gene

Keywords

G2019S LRRK2 mutation

Outcome Measures

Primary Outcomes (1)

• Compare the change over 12 months in the modified Timed Up and Go (mTUG) test

  To compare the change over 12 months in the modified Timed Up and Go (mTUG) test, or subitems of the mTUG, recorded by video and a smartphone sensor application between participants with PD caused by the G2019S pathogenic mutation of the LRRK2 gene, and age and sex matched healthy control cohort

  12 months

Secondary Outcomes (4)

• Evaluate the change over 12 months in linear velocity parameter in ambulation and gait.

  12 months

• Evaluate the change over 12 months in stride length parameter in ambulation and gait.

  12 months

• Evaluate the change over 12 months in cadence parameter in ambulation and gait.

  12 months

• Evaluate the change over 12 months in double support parameter in ambulation and gait.

  12 months

Study Arms (4)

Part A/Sub Cohort A1

15 healthy participants 18-35 years of age

Other: Observational

Part A/Sub Cohort A2

15 healthy participants 65-80 years of age

Other: Observational

Part A/Sub Cohort A3

Control group age and sex matched to the PD participants in Part B of the study

Other: Observational

Part B

60 participants with a confirmed diagnosis of Parkinson's disease and a heterozygous G2019S mutation in the LRRK2 gene

Other: Observational

Interventions

Observational OTHER

This is an observational study to investigate the natural history of G2019S LRRK2 PD using traditional and digital methodology (digital phenotyping). Study conduct will be decentralized (at home as much as possible) consisting of two parts: Part A with Healthy Volunteers (HV) participants and Part B in patients with G2019S LRRK2 PD.

Part A/Sub Cohort A1; Part A/Sub Cohort A2; Part A/Sub Cohort A3; Part B

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

* Part A (Healthy Volunteers): Healthy participants aged 18-80 years of age * Part B (Patients with Parkinson Disease): Participants with PD caused by the G2019S pathogenic mutation of the LRRK2 gene

You may qualify if:

• Individuals eligible to participate in Part A of this study will meet all the following criteria:
• Willing and able to provide informed consent after the nature of the study has been explained
• years of age inclusive at Screening (sub cohort A1) or 65-80 years of age inclusive at Screening (sub cohort A2)
• Willing and able to comply with all study procedures
• Sub cohort A3 participants must match the age ± 0.5 years and sex of match participant in Part B
• Participant must be healthy as per the investigator's assessment with no underlying clinically significant diseases (participants with hypertension, diabetes, hypercholesterolemia, and other chronic diseases associated with aging but not thought to interfere with the performance of the mTUG or other study measures may be allowed after consultation with the Medical Monitor)
• Participant must be able to use the Technology as described in the protocol
• Have access to a minimum indoor space of 6 meters by 2 meters (or approximately 20 feet by 7 feet) to carry out the mTUG
• Agree to retain the same level of activity throughout the study and not have plans to stop/start or increase or decrease any exercise programs
• Have reliable access to working WiFi internet or willingness to use a provided cellular internet connection device
• Agree to refrain from all alcohol and cannabinoid products within 24 hours prior to performing the mTUG assessment (i.e., three non consecutive days during study Week two, and Weeks two and three of the run in period)

You may not qualify if:

• History of mobility, gait, or ambulation problems (defined as mobility limitations that impact walking on a daily basis)
• History of neurological disease
• Any elective surgery planned during the study duration, approximately 12-15 months from Screening
• History of significant head injury within the past 5 years (head injury with loss of consciousness or requiring greater than 24 hours in hospital in relation to head injury)
• History of alcohol use disorder or other substance abuse disorder (excluding tobacco use), according to the Diagnostic and Statistical Manual of Mental Disorders 5th Edition (DSM-5) in the past 10 years
• Body Mass Index (BMI) (calculated from self reported height and weight) of greater than 35
• Pregnant or planning to become pregnant in the next 24 months
• Has a concurrent disease or condition that, in the view of the investigator, places the subject at high risk of poor treatment compliance or of not completing the study, or would interfere with study participation or would affect safety
• Individuals eligible to participate in Part B of this study must meet all the following criteria:
• Willing and able to provide informed consent after the nature of the study has been explained
• Willing and able to comply with all study procedures
• Have confirmed diagnosis of PD documented in medical records according to UK Brain Bank criteria
• Confirmed G2019S mutation(s) in the LRRK2 gene either by evidence recorded in medical record with report from accredited laboratory, or through another accredited genetic testing program, or other partner laboratory. Up to 10 participants with homozygous mutations may be enrolled in addition to the 60 participants with heterozygous mutation
• Hoehn and Yahr Scale Score 1-3
• Physically and cognitively able to complete protocol specified tasks independently or with some assistance

Sponsors & Collaborators

• Escape Bio, Inc.: lead
• Momentum Pharma: collaborator
• Science 37: collaborator

Study Sites (1)

Science 37

Culver City, California, 90230, 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 BACKGROUND

MeSH Terms

Interventions

Watchful Waiting

Intervention Hierarchy (Ancestors)

Outcome Assessment, Health Care; Outcome and Process Assessment, Health Care; Quality of Health Care; Health Services Administration

Study Officials

• Carrolee Barlow, MD, PhD

  Escape Bio, Inc.

  STUDY CHAIR

Study Design

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

Study Record Dates

• First Submitted: April 14, 2022
• First Posted: April 27, 2022
• Study Start: May 2, 2022
• Primary Completion: August 5, 2022
• Study Completion: August 5, 2022
• Last Updated: January 18, 2023

Record last verified: 2022-08

Locations

US (1)