Huntington Disease
Conditions
Keywords
Huntington's disease biomarkers, remote monitoring, biobank, observational study
Brief summary
This observational study aims to identify novel biomarkers of disease onset and progression in Huntington's disease by integrating remote monitoring with fluid biomarkers. Using video-based computer vision and mobile app-based cognitive assessments combined with machine learning algorithms, we aim to develop markers that can be used by Huntington's disease patients at home. Using machine learning to analyze videos of movement will capture the movements with an accuracy that will be as good as seeing an expert neurologist. These individualized markers can be followed over time to evaluate symptoms onset and change. The study will track disease progression and correlate these digital markers with changes in plasma and cerebrospinal fluid. The ultimate goal is to advance biomarker discovery and therapeutic development for Huntington's disease. The study includes one in-person visit per year. A remote visit via Zoom or Facetime (15 min) every three months to record videos of movement. We can also share cutting-edge wristbands and a mobile phone app.
Interventions
DIAGNOSTIC_TESTcomputer vision, remote monitoring, blood, urine, wrist bands, mobile-app
This is a low burden study that relies on a combination of cutting edge remote monitoring methods to deliver individualized evaluations to participants in their homes.
Sponsors
Schwab Charitable Fund
Stanford University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Individuals with a positive test for the HD expansion mutation.
Exclusion criteria
* Individuals with movement disorders with a negative test for the HD expansion mutation.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Unified Huntington's Disease Rating Scale (UHDRS) | Once a year in-person and 3 times a year remotely, until death or dropout of the study (average approximately 1 year) | Neurological exam with a neurologist to document the motor exam |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Timed Up and Go (TUG) | Once a year in-person and 3 times a year remotely, until death or dropout of the study (average approximately 1 year) | Timed stand from chair and walk |
| 30-second Chair Stand Test | Once a year in-person and 3 times a year remotely, until death or dropout of the study (average approximately 1 year) | Assesses lower body strength and endurance. Participants are instructed to stand up fully and sit back down as many times as possible within 30 seconds, |
Countries
United States
Contacts
Primary ContactMinhtrang Chu, Study Coordinator
Backup ContactOlivia Lu, Study Coordinator
Outcome results
None listed