Huntington DiseaseNCT04515550
Mitochondrial Biomarkers in Huntington's Disease
An observational study of Huntington Disease, run by University Hospitals Cleveland Medical Center at 1 site in United States.
Trial summary
The objective of this study is to discover a panel of mitochondrial metabolomics biomarkers for Huntington's disease. Read more about this study
- Who is it for?
- Ages 20 to 85 yearsHealthy volunteers can take part
- Conditions the study is for
- Huntington Disease
- What is being tested?
- lumbar puncture
- How many people
- 27 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Apr 2019to 28 Feb 2022
- How long will I take part?
- 18 Months
- 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 20 to 85 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: The study population consists of people with HD and controls without HD
Who may be able to join
- Age 20 to 85
- Montreal Cognitive Assessment score >10
- HD subjects had onset of HD symptoms after the age of 20
- HD subjects with Diagnostic Confidence Level (DCL) of 0-3 (pre-symptomatic or pre-manifest) must have at least 40 CAG repeats on one HTT allele
- HD subjects with Diagnostic Confidence Level (DCL) of 4 (manifest) must have at least 36 CAG repeats on one HTT allele
- Controls are asymptomatic without family history of HD or have <36 CAG repeats on both HTT alleles with family history of HD
Who cannot join
- HD subjects who did not already have genetic testing are excluded from this study
- Pregnancy or plans to become pregnant during the study
- Investigational drugs within 3 months of screening visit
- Alcohol or illicit drug abuse or dependence
- Other genetic or neurological disorders
- Other medical or psychiatric illness that in the investigator's judgement will prevent ability to tolerate or undergo study procedures
- For those volunteering for lumbar puncture (LP), bleeding disorders or excessive bleeding, anticoagulation, aspirin if unable to safely stop taking it at least 7 days prior to LP, other antiplatelet medications, inability to tolerate LP, allergy to local anesthetic or chlorhexidine, major lumbar spine deformity, low platelets or abnormal coagulation factors PT/APTT
Trial locations and contacts
1 site in 1 country.
United States1 site
University Hospitals Cleveland Medical Center
Cleveland, Ohio, 44106
About this study
Official title: Longitudinal Biospecimen Collection for Mitochondrial Metabolomics in Huntington's Disease
The objective of this study is to discover a panel of mitochondrial metabolomics biomarkers for Huntington's disease.
Read the detailed description
This investigator-initiated, single-site longitudinal study seeks to assess the utility of mitochondrial metabolomics -- panels of small molecules that affect mitochondrial function -- to diagnose pre-symptomatic, pre-manifest, and symptomatic Huntington's disease and serve as biomarkers for HD severity and progression. It also seeks to demonstrate that this novel biomarker in the blood has comparable value to the same analysis in spinal fluid. This research study involves 3-4 visits over 18 months. Forty volunteers with HD and 25 volunteers without HD will be included. Volunteers who have HD will have a physical examination and blood draw at each study visit. Some participants will also volunteer for optional lumbar puncture.
- Conditions
- Huntington Disease
- Being tested
- lumbar puncture
- Keywords
- Huntington disease, Huntington's disease, biomarker
- Medical subject headings
- Huntington Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
lumbar punctureDiagnostic test
Some participants will have an optional lumbar puncture
| Study group | Role | What they receive |
|---|---|---|
| Huntington's disease (HD) | people with HD Receives: Diagnostic Test: lumbar puncture | |
| Controls without HD | people without HD Receives: Diagnostic Test: lumbar puncture |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Unified Huntington Disease Rating Scale (UHDRS) and UHDRS sub-sections
This is a questionnaire and neurological examination. Lower values are better than higher values.
Measured: At baseline, 9 months, and 18 months
Secondary outcomes (1)
Change in Montreal Cognitive Assessment (MoCA)
Zero to 30 point cognitive scale. Higher values are better than lower values.
Measured: At baseline, 9 months, and 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Aug 2020
- Study start4 Apr 2019
- Primary completion28 Feb 2022
- Study completion28 Feb 2022
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 University Hospitals Cleveland Medical CenterThe 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
- 27 participants (actual)
- Target duration
- 18 Months
Sponsor and investigators
- Lead sponsor
- University Hospitals Cleveland Medical Center
- Sponsor type
- University, hospital or other
- Collaborators
- Case Western Reserve University, National Institute of Neurological Disorders and Stroke (NINDS), The Cleveland Clinic
- Responsible party
- Principal investigator, Steven Gunzler, MD, University Hospitals Cleveland Medical Center
- Investigators
- Xin Qi, PhD, Principal investigator, Case Western Reserve University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04515550
- Sponsor's protocol ID
- 20181082
- Other IDs
- 1R21NS107897-01A1
- Status last verified
- Apr 2022
- First submitted
- 31 Jul 2020
- Last updated
- 12 Apr 2022
- 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 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Biospecimen Collection for Mitochondrial Metabolomics in Huntington's Disease
- ClinicalTrials.gov ID
- NCT04515550
- Acronym / sponsor ID
- 20181082
- Conditions
- Huntington Disease
- Keywords
- Huntington disease, Huntington's disease, biomarker
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 27 participants (actual)
- Lead sponsor
- University Hospitals Cleveland Medical CenterUniversity, hospital or other
- Collaborators
- Case Western Reserve University, National Institute of Neurological Disorders and Stroke (NINDS), The Cleveland Clinic
- Study start
- 4 Apr 2019 (actual)
- Primary completion
- 28 Feb 2022 (actual)
- Study completion
- 28 Feb 2022 (actual)
- First posted
- 17 Aug 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.
The objective of this study is to discover a panel of mitochondrial metabolomics biomarkers for Huntington's disease.
Detailed description
This investigator-initiated, single-site longitudinal study seeks to assess the utility of mitochondrial metabolomics -- panels of small molecules that affect mitochondrial function -- to diagnose pre-symptomatic, pre-manifest, and symptomatic Huntington's disease and serve as biomarkers for HD severity and progression. It also seeks to demonstrate that this novel biomarker in the blood has comparable value to the same analysis in spinal fluid. This research study involves 3-4 visits over 18 months. Forty volunteers with HD and 25 volunteers without HD will be included. Volunteers who have HD will have a physical examination and blood draw at each study visit. Some participants will also volunteer for optional lumbar puncture.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 18 Months
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Huntington's disease (HD) | – | Diagnostic Test: lumbar puncturepeople with HD |
| Controls without HD | – | Diagnostic Test: lumbar puncturepeople without HD |
Who may qualify
- Ages
- 20 to 85 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- The study population consists of people with HD and controls without HD
Key inclusion criteria (6 listed)
- Age 20 to 85
- Montreal Cognitive Assessment score >10
- HD subjects had onset of HD symptoms after the age of 20
- HD subjects with Diagnostic Confidence Level (DCL) of 0-3 (pre-symptomatic or pre-manifest) must have at least 40 CAG repeats on one HTT allele
- HD subjects with Diagnostic Confidence Level (DCL) of 4 (manifest) must have at least 36 CAG repeats on one HTT allele
Key exclusion criteria (7 listed)
- HD subjects who did not already have genetic testing are excluded from this study
- Pregnancy or plans to become pregnant during the study
- Investigational drugs within 3 months of screening visit
- Alcohol or illicit drug abuse or dependence
- Other genetic or neurological disorders
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 |
|---|---|---|
| lumbar punctureSome participants will have an optional lumbar puncture | Diagnostic test | Controls without HD, Huntington's disease (HD) |
Primary outcome
Change in Unified Huntington Disease Rating Scale (UHDRS) and UHDRS sub-sections
Time frame: At baseline, 9 months, and 18 months
This is a questionnaire and neurological examination. Lower values are better than higher values.
1 secondary outcome
Change in Montreal Cognitive Assessment (MoCA)
Time frame: At baseline, 9 months, and 18 months
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 Apr 2022.
- 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.
Xin Qi, PhD principal investigator
Case Western Reserve University
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 Hospitals Cleveland Medical Center 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 6 inclusion and 7 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 Apr 2022. 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?
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?
Change in Unified Huntington Disease Rating Scale (UHDRS) and UHDRS sub-sections (time frame: At baseline, 9 months, and 18 months). 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 Apr 2022.