Huntington's Disease Biobank: Advancing Remote Monitoring and Deep Phenotyping

NCT06941662 | Recruiting

• 1 other identifier: 74659
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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.

Conditions

Huntington Disease

Keywords

Huntington's disease biomarkers; remote monitoring; biobank; observational study

Outcome Measures

Primary Outcomes (1)

• Unified Huntington's Disease Rating Scale (UHDRS)

  Neurological exam with a neurologist to document the motor exam

  Once a year in-person and 3 times a year remotely, until death or dropout of the study (average approximately 1 year)

Secondary Outcomes (2)

• 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)

• 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)

Study Arms (1)

Huntington's disease

Individuals who carry the Huntington's disease mutation. Individuals with pre-manifest or manifest disease at all disease stages are welcome

Diagnostic Test: computer vision, remote monitoring, blood, urine, wrist bands, mobile-app

Interventions

computer vision, remote monitoring, blood, urine, wrist bands, mobile-app DIAGNOSTIC_TEST

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.

Huntington's disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

community, neurology clinics, hospital, huntington's disease centers of excellence.

You may qualify if:

• Individuals with a positive test for the HD expansion mutation.

You may not qualify if:

• Individuals with movement disorders with a negative test for the HD expansion mutation.

Sponsors & Collaborators

• Stanford University: lead
• Schwab Charitable Fund: collaborator

Study Sites (1)

Stanford University

Palo Alto, California, 94304, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood, optional cerebrospinal fluid, optional skin biopsy, videos of motor exam, mobile app-based testing.

MeSH Terms

Conditions

Huntington Disease

Interventions

Blood Specimen Collection; Urination

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Dementia; Chorea; Dyskinesias; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cognition Disorders; Neurocognitive Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques; Urinary Tract Physiological Phenomena; Reproductive and Urinary Physiological Phenomena

Study Officials

• Kyan Younes, MD

  Stanford University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Minhtrang Chu, Study Coordinator

CONTACT

650-250-3160; mtchu@stanford.edu

Olivia Lu, Study Coordinator

CONTACT

650-374-9286; olivialu@stanford.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: April 2, 2025
• First Posted: April 24, 2025
• Study Start: June 1, 2024
• Primary Completion (Estimated): December 1, 2035
• Study Completion (Estimated): December 1, 2035
• Last Updated: April 24, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)