Prospective Single-Timepoint Huntington's Disease Biospecimen Collection Study (SAN-09611)

SAN-09611: Prospective Single-Timepoint Huntington's Disease Biospecimen Collection Study

OBJECTIVES:

The primary study objective is to collect blood from participants with Huntington's Disease in order to validate a CE marked Cytosine, Adenine, Guanine (CAG) assay for use in future studies for Huntington's Disease.

The secondary study objective is to create a biorepository that can be used to identify disease associated biomarkers and potential targets with immune and multi-omics profiling. The disease sample collection and analysis will be the foundation for an extensive network of biospecimen access and linked datasets for future translational research.

Study Overview

• Status: Recruiting
• Conditions: Huntington Disease; Huntington's Dementia; Huntington Disease, Late Onset; Huntington; Dementia (Etiology)
• Intervention / Treatment: Other: Biospecimen Collection

Detailed Description

STUDY DESIGN:

• This protocol is a single-center, single-cohort, bioresearch study enrolling up to 5 participants. The cohort is as follows:

  o Cohort 1: Huntington's Disease (n=5)

• The study will enroll participants per the eligibility criteria.
• Participants will have 1 scheduled biospecimen collection visit(s). If the participant requires a recollection or is called for an extra sample donation, this will add additional volume and visit(s) to the collection schedule. The biospecimens collected from participants are whole blood.
• The target blood volume of each phlebotomy visit will be 20 mL. The minimum accepted volume (in the event of tough venipuncture attempts or difficulty obtaining the blood) will be 5 mL. The maximum amount that can be drawn in a 6-week period will be 100 mL (whole blood 6-week maximum).
• Confirmation of eligibility and medical record review by a member of the study staff will be completed for participants of the cohort before they are considered fully enrolled.

• Study Type: Observational
• Enrollment (Estimated): 5

Contacts and Locations

• Study Contact: Name: Andrew C Frisina, M.S.; Phone Number: 9782394764; Email: Afrisina@sanguinebio.com

Study Locations

• United States
  • Massachusetts
    • Woburn, Massachusetts, United States, 01801
      • Recruiting
      • Sanguine Biosciences, Inc.
      • Contact: Andrew C Frisina, M.S.; Phone Number: 978-239-4764; Email: Afrisina@sanguinebio.com
      • Principal Investigator: Houman D Hemmati, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 25 years to 65 years (Adult, Older Adult)
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

The biospecimen subtypes for this study include whole blood from people diagnosed with Huntington's disease. The global prevalence and rising burden of Huntington's disease is a worldwide healthcare concern. Huntington's Disease is seen as frequently in 10.6-13.7 people per 100,000 individuals.10 The collection and analysis of samples from the diseased specimens will lay the groundwork for an extensive network of biospecimen access and linked datasets for future translation research in therapeutic development and a better understanding of the disease to improve health outcomes.

Description

Cohort 1: Huntington's Disease

Inclusion:

1. The participant is willing and able to provide written informed consent
2. The participant is willing and able to provide appropriate photo identification
3. Participants aged 25 to 65, inclusive
4. Participants have been diagnosed with Huntington's Disease
5. Patients must have numerical documentation of CAG repeats present in the Medical Record, along with a Huntington's Disease diagnosis.
6. Pre-existing evidence of CAG repeats should be in the range of 40-60 repeats *Preference (not required for enrollment): Patients to have different CAG repeats from each other but this is not essential.*

Exclusion:

1. Participants who are pregnant or are nursing
2. Participants with a known history of HIV, hepatitis, or other infectious diseases
3. Participants who have taken an investigational product in the last 30 days
4. Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Biospecimen Collection	The primary study objective is to collect blood from participants with Huntington's Disease in order to validate a CE marked Cytosine, Adenine, Guanine (CAG) assay for use in future studies for Huntington's Disease.	6 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Biorepository creation	The secondary study objective is to create a biorepository that can be used to identify disease associated biomarkers and potential targets with immune and multi-omics profiling. The disease sample collection and analysis will be the foundation for an extensive network of biospecimen access and linked datasets for future translational research.	6 months

Collaborators and Investigators

• Sponsor: Sanguine Biosciences
• Collaborators: Hoffmann-La Roche

Study record dates

Study Major Dates

• Study Start (Actual): March 14, 2023
• Primary Completion (Estimated): February 28, 2025
• Study Completion (Estimated): February 28, 2025

Study Registration Dates

• First Submitted: March 6, 2023
• First Submitted That Met QC Criteria: March 6, 2023
• First Posted (Actual): March 17, 2023

Study Record Updates

• Last Update Posted (Actual): April 18, 2024
• Last Update Submitted That Met QC Criteria: April 16, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurocognitive Disorders; Disease Attributes; Genetic Diseases, Inborn; Basal Ganglia Diseases; Movement Disorders; Neurodegenerative Diseases; Dyskinesias; Heredodegenerative Disorders, Nervous System; Cognition Disorders; Chorea; Dementia; Huntington Disease; Late Onset Disorders
• Other Study ID Numbers: SAN-09611

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Data provided to Roche only.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No