Extracellular Vesicles for HD

Extracellular Vesicles As Non-Invasive Biomarkers for Huntington Disease Progression and Huntingtin Lowering Therapy

The primary objective of this study is to discover blood-based biomarker of brain Huntingtin (HTT) protein using extracellular vesicles to be used in evaluating target engagement in HTT lowering clinical trials.

Secondary objectives of this study include developing more accurate biomarkers of Huntington disease (HD) progression or conversion and to develop standard practices for extracellular vesicle biomarker discovery research.

The investigators hypothesize that brain-derived extracellular vesicles (EVs) isolated from human biofluids contain biological cargo specific to their tissue of origin that could allow their use as brain biomarkers for HD. EVs are lipid bilayer-delimited particles that are naturally released from cells in the brain.

The investigators will investigate if EVs contents reflect the pathological alterations occurring with disease progression when compared with EVs isolated from biofluids of healthy non-HD persons.

Study Overview

• Status: Recruiting
• Conditions: Huntington Disease

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Amoy Fraser, PhD, CCRP, PMP; Phone Number: 4072668742; Email: Amoy.Fraser@UCF.edu
• Study Contact Backup: Name: Erica Martin, B.S.; Phone Number: 4072668742; Email: erica.martin@ucf.edu

Study Locations

• United States
  • Florida
    • Orlando, Florida, United States, 32816
      • Recruiting
      • University of Central Florida
      • Contact: Amoy Fraser, PhD, CCRP, PMP; Phone Number: 4072668742; Email: Amoy.Fraser@UCF.edu
      • Contact: Erica Martin, BS; Phone Number: 4072668742; Email: erica.martin@ucf.edu
      • Contact: Amber Southwell, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

The study will enroll HD carriers (HD Carriers) and non-carriers (Non-HD Carriers).

100 participants will be enrolled. 25 from Central Florida Center for Huntington Disease at the University of Central Florida (Orlando) and 75 from Huntington's Disease Center of Excellence at the University of South Florida (Tampa).

Description

Inclusion Criteria:

1. 18 - 75 years of age
2. can provide informed consent
3. able to read and speak English
4. agree to comply with study procedures (including overnight fasting, blood collection and lumbar puncture); and
5. has been diagnosed with HD (HD Carriers) or not been diagnosed with HD (Non-HD Carriers).

Exclusion Criteria:

1. younger than 18 or older than 75 years old
2. known to carry an intermediate CAG repeat between 27 and 39 or a larger expansion of 60 or more CAG repeats
3. receiving nutrition through a tube
4. pregnant
5. participated in a clinical drug trial within 30 days
6. use prescribed or non-prescribed medications that are not compatible with collection of the study samples (those that may cause excessive bleeding or prevent clotting)
7. positive for HIV, hepatitis B or C
8. have a confirmed or suspected immunodeficient condition/state
9. significant medical, psychiatric, or neurological morbidity is observed by the clinic physician on the day of sample collection that might impair completion of the study procedures
10. have needle phobia, frequent headache, significant lower spinal deformity or major surgery
11. received antiplatelet or anticoagulant therapy within 14 days prior to sample collection (including but not limited to: aspirin, clopidogrel, dipyridamole, warfarin, dabigatran, rivaroxaban and apixaban)
12. have a blood clotting or bruising disorder
13. do not comply with or are unwilling to undertake any of the study procedures

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Huntington Disease Carriers
Non-Huntington Disease Carriers

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
To discover blood-based biomarker of brain HTT protein using extracellular vesicles to be used in evaluating target engagement in HTT lowering clinical trials.	1 year

Secondary Outcome Measures

Outcome Measure	Time Frame
To develop more accurate biomarkers of HD progression or conversion	8 years
to develop standard practices for extracellular vesicle biomarker discovery research	8 years

Collaborators and Investigators

• Sponsor: University of Central Florida
• Collaborators: University of South Florida
• Investigators: Principal Investigator: Amber Southwell, PhD, University of Central Florida Burnett School of Biomedical Sciences

Study record dates

Study Major Dates

• Study Start (Actual): October 25, 2023
• Primary Completion (Estimated): November 1, 2031
• Study Completion (Estimated): November 1, 2031

Study Registration Dates

• First Submitted: October 8, 2023
• First Submitted That Met QC Criteria: October 8, 2023
• First Posted (Actual): October 13, 2023

Study Record Updates

• Last Update Posted (Estimated): December 6, 2024
• Last Update Submitted That Met QC Criteria: December 3, 2024
• Last Verified: December 1, 2024

More Information

Terms related to this study

• Keywords: Healthy; HD; Huntington Disease
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Mental Disorders; Genetic Diseases, Inborn; Neurocognitive Disorders; Cognition Disorders; Dementia; Neurodegenerative Diseases; Movement Disorders; Heredodegenerative Disorders, Nervous System; Basal Ganglia Diseases; Dyskinesias; Chorea; Huntington Disease
• Other Study ID Numbers: STUDY00004597

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No