Gut Microbiomes in HD

NCT06448546 | Recruiting

• 1 other identifier: STUDY00006833
• Study Type: observational
• Target: 36
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to find out if there is a connection between the naturally occurring bacteria in our bodies and the progression of Huntington disease. The investigators are trying to determine if patients who are diagnosed with adult-onset HD and who exhibit a rapid rate of disease progression have unique populations of bacteria in their gut as compared to patients with slower progression.

Conditions

Huntington Disease

Keywords

Huntington Disease; HD; Gut Microbiome

Outcome Measures

Primary Outcomes (1)

• To quantify relative abundance of entire gut microbiomes in people using Metagenomic analysis

  Metagenomic analysis via 16S ribosomal RNA (rRNA) gene sequencing will be performed on HD and control stool samples to identify HD-associated changes in microbe abundance at the genus level.

  5 years

Secondary Outcomes (1)

• To quantify relative abundance of candidate microbes in HD and control gut using quantitative PCR.

  5 years

Study Arms (3)

Control

Patients who are not diagnosed with HD

Experimental Group 1

Underweight HD patients

Experimental Group 2

Overweight HD patients

Eligibility Criteria

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

Study Population

This study aims to recruit approximately 36 adult participants: 12 for the control group (who do not have the HD gene mutation), 12 for experimental group 1 (underweight HD patients), and 12 for experimental group 2 (overweight HD patients). There may be some variation in participant number depending on recruitment success. Experimental group 1 will target underweight HD patients and experimental group 2 will target normal to overweight HD patients.

You may qualify if:

• years or older
• Provide informed consent
• Able to read and speak English
• Agree to comply with study procedures
• CAG repeat length ≤ 26.
• BMI 18.5-24.9
• BMI \< 18.5 (underweight) or significant, involuntary weight loss within the past 12 months.
• CAG repeat length 40 - 59.
• Documentation of the Clinical Diagnosis of HD with a high level of certainty (\>99% confidence) using the validated Unified Huntington's Disease Rating Scale (UHDRS).
• Stage I-III on the Functional Assessment component of the UHDRS
• BMI \> 25.0 (overweight - obesity) or BMI ≤ 25.0 with significant, unexplained weight gain within the past 12 months
• CAG repeat length 40 - 59.
• Documentation of the Clinical Diagnosis of HD with a high level of certainty (\>99% confidence) using the validated UHDRS.
• Stage I-III on the Functional Assessment component of the UHDRS

You may not qualify if:

• CAG repeat length ≥ 60 to exclude participants with juvenile onset HD.
• CAG repeat length 36 - 39 to exclude participants with reduced penetrance. As this is a pilot study, we are primarily interested in participants with typical HD characteristics.
• UHDRS Functional Capacity stage ≥ 4 to exclude late-stage HD patients who may be institutionalized and receive nutrition through a feeding tube.
• Use of any of the following drugs within the last 6 months:
• System antibiotics, antifungals, antivirals, or anti-parasitics (intravenous, intramuscular, or oral)
• Corticosteroids (intravenous, intramuscular, oral, nasal, or inhaled)
• Cytokines
• Methotrexate, immunosuppressive cytotoxic agents, or chemotherapy
• Commercial probiotics ≥ 100 million CFU (fermented foods, yogurts, and other homeopathic probiotics and prebiotics do not apply)
• Use of topical antibiotics or topical steroids within the last 7 days
• History of active, uncontrolled gastrointestinal disorders or diseases, including:
• Inflammatory bowel disease
• Ulcerative colitis
• Crohn's disease
• Irritable bowel syndrome

Sponsors & Collaborators

• University of Central Florida: lead
• University of South Florida: collaborator

Study Sites (1)

University of Central Florida

Orlando, Florida, 32816, United States

RECRUITING

MeSH Terms

Conditions

Huntington Disease

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

Study Officials

• Amber Southwell, PhD

  University of Central Florida

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Amoy Fraser, PhD, CCRP, PMP

CONTACT

4072668742; amoy.fraser@ucf.edu

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 3, 2024
• First Posted: June 7, 2024
• Study Start: June 1, 2025
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): June 1, 2029
• Last Updated: June 18, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)