Using blood samples to find biomarkers for Huntington Disease

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

This study is trying to find signs in blood samples that could help track Huntington Disease by looking at tiny particles released from brain cells in people with the disease compared to healthy individuals.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: 18 Years to 75 Years
• Sex: All
• Sponsor: University of Central Florida (Academic / other)
• Locations: 1 site (Orlando, Florida)
• Trial ID: NCT06082713 on ClinicalTrials.gov

What this trial studies

This observational study aims to identify blood-based biomarkers of the Huntingtin protein associated with Huntington Disease (HD) by analyzing extracellular vesicles. The researchers will compare the contents of these vesicles from individuals with HD to those from healthy individuals to assess their potential as indicators of disease progression. The study also seeks to establish standard practices for biomarker discovery using extracellular vesicles, which are naturally released particles from brain cells. By understanding the biological cargo of these vesicles, the study hopes to enhance the evaluation of therapies targeting HTT lowering in future clinical trials.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 18 to 75 who have been diagnosed with Huntington Disease or are non-HD carriers.

Not a fit: Patients younger than 18 or older than 75, those with specific genetic markers, or those with significant medical conditions may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to more accurate biomarkers for monitoring Huntington Disease progression and treatment response.

How similar studies have performed: While the approach of using extracellular vesicles for biomarker discovery is promising, it is still relatively novel and has not been extensively tested in similar studies.

Eligibility criteria

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

Where this trial is running

Orlando, Florida

• University of Central Florida — Orlando, Florida, United States (Recruiting)

Study contacts

• Principal investigator: Amber Southwell, PhD — University of Central Florida Burnett School of Biomedical Sciences
• Study coordinator: Amoy Fraser, PhD, CCRP, PMP

Conditions Huntington Disease; HD; Healthy