Huntington DiseaseNCT06448546
Gut Microbiomes in HD
An observational study of Huntington Disease, run by University of Central Florida at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Huntington Disease
- How many people
- 36 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2025to Jun 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- 18 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
Show all 14Show fewer
- 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
Who cannot join
- 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)
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- 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
- Infectious gastroenteritis, colitis, or gastritis
- Clostridium difficile or Helicobacter pylori infection
- Persistent or chronic constipation or diarrhea
- Acute illness with or without fever at time of sample collection
- Positive for HIV, hepatitis B, or hepatitis C
- Confirmed or suspected immunodeficient condition/state
- Major surgery of the GI tract, excluding cholecystectomy and appendectomy
- Unstable dietary history within the past month, such as elimination or significant increase of a major food group in the diet
- Recent history of chronic, excessive alcohol consumption
- Travel outside of the United States within the last 3 months
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Central Florida
Orlando, Florida, 32816
Amoy Fraser, PhD, CCRP, PMP, 4072668742, amoy.fraser@ucf.edu
Erica Martin, BS, 4072668742, erica.martin@ucf.edu
About this study
Official title: Investigating the Role of the Gut Microbiome in Huntington's Disease
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.
Read the detailed description
Two of the most common non-neurological features of Huntington disease (HD) are progressive weight loss and metabolic dysfunction. However, a small proportion of HD patients are pathologically overweight, despite having similar CAG repeat lengths as pathologically underweight patients. The investigators hypothesize this spectrum of weight abnormalities may be caused by HD-related metabolic dysfunction.
Pathological weight loss is recapitulated in transgenic HD model mice expressing fragments of human huntingtin (HTT), either transgenically3,4 or knocked-in to a portion of the mouse HD homolog (Hdh) gene5. Conversely, pathological weight gain is recapitulated in transgenic HD model mice expressing full-length human HTT either along with the full complement of Hdh6,7 or in Hdh-null backgrounds8,9.
In Hdh-null background transgenic HD model mice, which are pathologically overweight, circadian feeding is disrupted, despite maintenance of naturally nocturnal circadian activity. Interestingly, circadian feeding patterns are restored by suppression of brain HTT (unpublished Dr. Amber Southwell), suggesting that HTT plays a role in circadian feeding regulation. Furthermore, when circadian feeding patterns are artificially restored with scheduled feeding, striatal HTT is temporarily suppressed, while metabolic markers and body weight are normalized (unpublished Dr. Amber Southwell). Together, this demonstrates that HTT is involved in gut-brain feedback, but since HTT suppression during scheduled feedings is transient, while metabolic effects are lasting, HTT is likely not the master regulator of this feedback loop. Instead, the gut microbiome may influence this pathway, possibly contributing to the onset and/or progression of HD.
- Conditions
- Huntington Disease
- Keywords
- Huntington Disease, HD, Gut Microbiome
- Medical subject headings
- Huntington Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Control | Patients who are not diagnosed with HD | |
| Experimental Group 1 | Underweight HD patients | |
| Experimental Group 2 | Overweight HD patients |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 5 years
Secondary outcomes (1)
To quantify relative abundance of candidate microbes in HD and control gut using quantitative PCR.
Using primers specific for microbes responsible for microbiota-derived metabolites that are altered in HD plasma as well as candidate microbes identified through aim 1, quantitative PCR (qPCR) will be used for quantifying relative abundance within the gut at the species level.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jun 2024
- Study startJun 2025 (estimated)
- Primary completionJun 2027 (estimated)
- Study completionJun 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Huntington DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 36 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Central Florida
- Sponsor type
- University, hospital or other
- Collaborators
- University of South Florida
- Responsible party
- Sponsor
- Investigators
- Amber Southwell, PhD, Principal investigator, University of Central Florida
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06448546
- Sponsor's protocol ID
- STUDY00006833
- Status last verified
- Jun 2025
- First submitted
- 3 Jun 2024
- Last updated
- 18 Jun 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigating the Role of the Gut Microbiome in Huntington's Disease
- ClinicalTrials.gov ID
- NCT06448546
- Acronym / sponsor ID
- STUDY00006833
- Conditions
- Huntington Disease
- Keywords
- Huntington Disease, HD, Gut Microbiome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 36 participants (estimated)
- Lead sponsor
- University of Central FloridaUniversity, hospital or other
- Collaborators
- University of South Florida
- Study start
- Jun 2025 (estimated)
- Primary completion
- Jun 2027 (estimated)
- Study completion
- Jun 2029 (estimated)
- First posted
- 7 Jun 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Two of the most common non-neurological features of Huntington disease (HD) are progressive weight loss and metabolic dysfunction. However, a small proportion of HD patients are pathologically overweight, despite having similar CAG repeat lengths as pathologically underweight patients. The investigators hypothesize this spectrum of weight abnormalities may be caused by HD-related metabolic dysfunction.
Pathological weight loss is recapitulated in transgenic HD model mice expressing fragments of human huntingtin (HTT), either transgenically3,4 or knocked-in to a portion of the mouse HD homolog (Hdh) gene5. Conversely, pathological weight gain is recapitulated in transgenic HD model mice expressing full-length human HTT either along with the full complement of Hdh6,7 or in Hdh-null backgrounds8,9.
In Hdh-null background transgenic HD model mice, which are pathologically overweight, circadian feeding is disrupted, despite maintenance of naturally nocturnal circadian activity. Interestingly, circadian feeding patterns are restored by suppression of brain HTT (unpublished Dr. Amber Southwell), suggesting that HTT plays a role in circadian feeding regulation. Furthermore, when circadian feeding patterns are artificially restored with scheduled feeding, striatal HTT is temporarily suppressed, while metabolic markers and body weight are normalized (unpublished Dr. Amber Southwell). Together, this demonstrates that HTT is involved in gut-brain feedback, but since HTT suppression during scheduled feedings is transient, while metabolic effects are lasting, HTT is likely not the master regulator of this feedback loop. Instead, the gut microbiome may influence this pathway, possibly contributing to the onset and/or progression of HD.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Control | – | –Patients who are not diagnosed with HD |
| Experimental Group 1 | – | –Underweight HD patients |
| Experimental Group 2 | – | –Overweight HD patients |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (14 listed)
Key exclusion criteria (25 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To quantify relative abundance of entire gut microbiomes in people using Metagenomic analysis
Time frame: 5 years
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.
1 secondary outcome
To quantify relative abundance of candidate microbes in HD and control gut using quantitative PCR.
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jun 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Amber Southwell, PhD principal investigator
University of Central Florida
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Huntington Disease, run by University of Central Florida at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 14 inclusion and 25 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Amoy Fraser, PhD, CCRP, PMP (4072668742, amoy.fraser@ucf.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To quantify relative abundance of entire gut microbiomes in people using Metagenomic analysis (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jun 2025.