Huntington DiseaseChol-HDNCT04257513
Clinical Study to Monitor Plasma Levels of 24OHC in Subject with HD
An observational study of Huntington Disease, run by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta at 1 site in Italy.
Trial summary
A 2-year clinical longitudinal study to measure plasma concentrations of 24S-hydroxycholesterol, a brain-derived cholesterol catabolite, in subjects with Huntington disease, from the presymptomatic to the symptomatic stages. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Huntington Disease
- What is being tested?
- Brain MRI
- How many people
- 60 participants
- Where
- 1 siteItaly
- Study dates
- 31 Oct 2019to 2 Jun 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
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
- No healthy volunteers
- Adult, Older adult
Study population: At least 60 subjects (both males and females) will be enrolled in the study. Eligible participants include healthy controls, people who are in the presymptomatic stage of HD, and people with symptomatic HD at different disease stage (I-III).
Who may be able to join
- Symptomatic HD subjects
- Age ≥ 18 years
- Known family history of HD and genetically confirmed disease by direct DNA test (CAG expansion > 35 repeats)
- Clinical diagnostic motor features of HD, defined as score> 5 at the motor Unified Huntington Disease Rating Scale (mUHDRS)
- Stage I or II or III HD, defined as UHDRS Total Functional Capacity (TFC) scores between 3 and 13 inclusive (Marder, 2000)
- Presymptomatic HD subjects
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- Age ≥ 18 years
- Known family history of HD and genetically confirmed mutation by direct DNA test (CAG expansion > 35 repeats)
- Absence of clinical motor features of HD, defined as mUHDRS rating scale ≤ 5
- Healthy Subjects
- Age ≥ 18 years
- Absence of known family history of HD or genetically confirmed negative DNA test for HD (CAG expansion ≤ 35 repeats)
- Absence of clinical motor features of HD, defined as mUHDRS rating scale ≤ 5
Who cannot join
- Participation in clinical pharmacological trials
- Inability to undergo and tolerate MRI scans (e.g. claustrophobia, severe chorea, MRI-incompatible intrauterine devices, metal implants, ect)
- Inability or unwillingness to undertake any of the study procedures
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Innovative Therapeutic Strategy Targeting Neurons with Cholesterol in Huntington Disease: from Preclinical Studies to Clinical Trial Readiness
A 2-year clinical longitudinal study to measure plasma concentrations of 24S-hydroxycholesterol, a brain-derived cholesterol catabolite, in subjects with Huntington disease, from the presymptomatic to the symptomatic stages.
Read the detailed description
In cross-sectional studies, the plasma level of brain-derived 24S-hydroxycholesterol (24OHC) has been found to be significantly diminished in HD patients from the first stages of the disease. Furthermore, in HD gene-positive pre-symptomatic (pre-HD) the plasma levels can predict the development of motor signs of disease in subjects closer to onset, better than in subjects far from onset. These data suggest that circulating 24OHC might be a candidate biomarker for phenotypic conversion and for disease progression in different stages of the disease.
Detailed neurological, cognitive and imaging data and blood samples will be collected at baseline, and after two years to investigate the rate of changes along the longitudinal study. Isotope dilution mass spectrometry (assay performed at Istituto di Ricerche Farmacologiche Mario Negri IRCCS) will be used to measure the plasma levels of brain-derived 24OHC and other sterols reflecting peripheral cholesterol synthesis. The investigators expect to establish whether changes in plasma 24OHC mark disease progression and, eventually, phenoconversion from pre-symptomatic to symptomatic stages in combination with clinical, cognitive and imaging parameters.
- Conditions
- Huntington Disease
- Being tested
- Brain MRI
- Keywords
- Huntington Disease, Cholesterol
- Medical subject headings
- Huntington Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Brain MRIDiagnostic test
Neurological and Cognitive evaluation; Brain MRI
| Study group | Role | What they receive |
|---|---|---|
| Healthy controls subjects | Subjects without known family history of HD, or tested negative for the HD expansion mutation. Receives: Diagnostic Test: Brain MRI | |
| Symptomatic HD subjects | Subjects HD gene expansion carriers who have clinical diagnostic motor symptoms of defined HD, and disease stage I to III. Receives: Diagnostic Test: Brain MRI | |
| Presymptomatic HD subjects: | Subjects HD gene expansion carriers who not have clinical diagnostic motor features of HD. Receives: Diagnostic Test: Brain MRI |
What is being measured
The primary outcome is the main question the study is designed to answer.
plasmatic 24OHC levels
Changes in plasmatic 24OHC levels measured
Measured: at baseline and after 2-years follow up visit
Secondary outcomes (3)
Changes in the score of the Unified Huntington Disease Rating Scale (UHDRS)
The concentration of 24OHC will be correlated with clinical evaluation to the stage of the disease and its progression.
Measured: after 2-years follow up visit
Changes in score at the Digit Symbol Modalities Test (DSMT)
The concentration of 24OHC will be correlated with cognitive evaluation to the stage of the disease and its progression.
Measured: after 2-years follow up visit
Changes in caudate nucleus volume measured at MRI
The concentration of 24OHC will be correlated with Imaging the stage of the disease and its progression.
Measured: after 2-years follow up visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Feb 2020
- Study start31 Oct 2019
- Primary completion6 Mar 2023
- Study completion2 Jun 2023
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.
- More trials run by Fondazione I.R.C.C.S. Istituto Neurologico Carlo BestaThe sponsor's other registered studies.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Istituto Di Ricerche Farmacologiche Mario Negri
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04257513
- Sponsor's protocol ID
- Chol-HD
- Acronym
- Chol-HD
- Status last verified
- Nov 2024
- First submitted
- 31 Jan 2020
- Last updated
- 12 Nov 2024
- Results posted
- No
- Data monitoring committee
- 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 12 Nov 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Innovative Therapeutic Strategy Targeting Neurons with Cholesterol in Huntington Disease: from Preclinical Studies to Clinical Trial Readiness
- ClinicalTrials.gov ID
- NCT04257513
- Acronym / sponsor ID
- Chol-HD / Chol-HD
- Conditions
- Huntington Disease
- Keywords
- Huntington Disease, Cholesterol
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo BestaUniversity, hospital or other
- Collaborators
- Istituto Di Ricerche Farmacologiche Mario Negri
- Study start
- 31 Oct 2019 (actual)
- Primary completion
- 6 Mar 2023 (actual)
- Study completion
- 2 Jun 2023 (actual)
- First posted
- 6 Feb 2020 (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.
A 2-year clinical longitudinal study to measure plasma concentrations of 24S-hydroxycholesterol, a brain-derived cholesterol catabolite, in subjects with Huntington disease, from the presymptomatic to the symptomatic stages.
Detailed description
In cross-sectional studies, the plasma level of brain-derived 24S-hydroxycholesterol (24OHC) has been found to be significantly diminished in HD patients from the first stages of the disease. Furthermore, in HD gene-positive pre-symptomatic (pre-HD) the plasma levels can predict the development of motor signs of disease in subjects closer to onset, better than in subjects far from onset. These data suggest that circulating 24OHC might be a candidate biomarker for phenotypic conversion and for disease progression in different stages of the disease.
Detailed neurological, cognitive and imaging data and blood samples will be collected at baseline, and after two years to investigate the rate of changes along the longitudinal study. Isotope dilution mass spectrometry (assay performed at Istituto di Ricerche Farmacologiche Mario Negri IRCCS) will be used to measure the plasma levels of brain-derived 24OHC and other sterols reflecting peripheral cholesterol synthesis. The investigators expect to establish whether changes in plasma 24OHC mark disease progression and, eventually, phenoconversion from pre-symptomatic to symptomatic stages in combination with clinical, cognitive and imaging parameters.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Healthy controls subjects | – | Diagnostic Test: Brain MRISubjects without known family history of HD, or tested negative for the HD expansion mutation. |
| Symptomatic HD subjects | – | Diagnostic Test: Brain MRISubjects HD gene expansion carriers who have clinical diagnostic motor symptoms of defined HD, and disease stage I to III. |
| Presymptomatic HD subjects: | – | Diagnostic Test: Brain MRISubjects HD gene expansion carriers who not have clinical diagnostic motor features of HD. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- At least 60 subjects (both males and females) will be enrolled in the study. Eligible participants include healthy controls, people who are in the presymptomatic stage of HD, and people with symptomatic HD at different disease stage (I-III).
Key inclusion criteria (13 listed)
- Symptomatic HD subjects
- Age ≥ 18 years
- Known family history of HD and genetically confirmed disease by direct DNA test (CAG expansion > 35 repeats)
- Clinical diagnostic motor features of HD, defined as score> 5 at the motor Unified Huntington Disease Rating Scale (mUHDRS)
- Stage I or II or III HD, defined as UHDRS Total Functional Capacity (TFC) scores between 3 and 13 inclusive (Marder, 2000)
Key exclusion criteria (3 listed)
- Participation in clinical pharmacological trials
- Inability to undergo and tolerate MRI scans (e.g. claustrophobia, severe chorea, MRI-incompatible intrauterine devices, metal implants, ect)
- Inability or unwillingness to undertake any of the study procedures
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Brain MRINeurological and Cognitive evaluation; Brain MRI | Diagnostic test | Healthy controls subjects, Presymptomatic HD subjects:, Symptomatic HD subjects |
Primary outcome
plasmatic 24OHC levels
Time frame: at baseline and after 2-years follow up visit
Changes in plasmatic 24OHC levels measured
3 secondary outcomes
Changes in the score of the Unified Huntington Disease Rating Scale (UHDRS)
Time frame: after 2-years follow up visit
Changes in score at the Digit Symbol Modalities Test (DSMT)
Time frame: after 2-years follow up visit
Changes in caudate nucleus volume measured at MRI
Time frame: after 2-years follow up visit
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Nov 2024.
- 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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
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 Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta at 1 site in Italy.
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 13 inclusion and 3 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: finished, as of the sponsor's last update on 12 Nov 2024. 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 Italy. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
plasmatic 24OHC levels (time frame: at baseline and after 2-years follow up visit). 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 12 Nov 2024.