Huntington DiseaseHD-YASNCT06391619
Huntington's Disease Young Adult Study 2.0
An observational study of Huntington Disease, run by University College, London at 1 site in United Kingdom.
Trial summary
The goal of this observational study is to learn about the first signs of disease in young adult carriers of the gene for Huntington's disease. The main questions to answer are: what are the earliest signs of the disease? can we identify the best time to intervene with treatment to prevent or delay onset of symptoms?… Read more about this study
- Who is it for?
- Ages 18 to 47 years
- Conditions the study is for
- Huntington Disease
- How many people
- 154 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 6 Apr 2022to 1 Dec 2025
- 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 to 47 years
- All sexes
- Adult
Study population: Young adult Huntington's disease gene carriers and age-, sex- and education-matched controls between the ages of 18 and 47
Who may be able to join
- For the Healthy Control group, participants eligible are persons who meet the following criteria:
- Are capable of providing informed consent and
- Are capable of complying with study procedures and
- Are aged between 18-47 years old and
- Have no known family history of HD (gene negative); or
- Have known family history of HD but have been tested for the huntingtin gene CAG expansion and are not at genetic risk for HD (CAG < 36*) (family control or community control)
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- For the Young Adult Premanifest HD group, participants eligible are persons who meet the following criteria:
- Are capable of providing informed consent and
- Are capable of complying with study procedures and
- Are aged between 18-47 years old and
- Have CAG expansion ≥ 40;
- New participants must have a DBS <240
Who cannot join
- Current use of investigational drugs or participation in a clinical drug trial within 30 days prior to study visit; or b. Current intoxication, drug or alcohol abuse or dependence; or c. If using any antidepressant, psychoactive, psychotropic or other medications or nutraceuticals used to treat HD, the use of inappropriate (e.g., non-therapeutically high) or unstable dose within 30 days prior to study visit; or d. Significant medical, neurological or psychiatric co-morbidity likely, in the judgment of the Principal Investigator, to impair participant's ability to complete essential study procedures; or e. Predictable non-compliance as assessed by the Principal Investigator; or f. Inability or unwillingness to undertake any of the essential study procedures; or g. Needle phobia: or h. Contraindication to MRI, including, but not limited to, MR-incompatible pacemakers, recent metallic implants, foreign body in the eye or other indications, as assessed by a standard pre-MRI questionnaire;or i. Pregnant (as confirmed by urine pregnancy test); or j. Claustrophobia, or any other condition that would make the subject incapable of undergoing an MRI.
- For CSF collection:
- Needle phobia, frequent headache, significant lower spinal deformity or major surgery; or
- Antiplatelet or anticoagulant therapy within the 14 days prior to sampling visit, including but not limited to: aspirin, clopidogrel, dipyridamole, warfarin, dabigatran, rivaroxaban and apixaban; or
- Clotting or bruising disorder; or
- Screening blood test results outside the clinical laboratory's normal range for the following: white cell count, neutrophil count, lymphocyte count, haemoglobin (Hb), platelets, prothrombin time (PT) or activated partial thromboplastin time (APTT); or
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- Screening blood test results for C-reactive protein (CRP)>2× upper limit of normal; or
- Exclusion during history or physical examination, final decision to be made by the Principal Investigator; including but not limited to:
- i any reason to suspect abnormal bleeding tendency, e.g. easy bruising, petechial rash; or ii any reason to suspect new focal neurological lesion, e.g. new headache, optic disc swelling, asymmetric focal long tract signs; or iii any other reason that, in the clinical judgment of the operator or the Principal Investigator, it is felt that lumbar puncture is unsafe.
- For Optional 7T MRI and MEG
- Contraindication to MRI, including, but not limited to, MR-incompatible pacemakers, recent metallic implants, foreign body in the eye or other indications, as assessed by a standard pre-MRI questionnaire; or
- Pregnant (as confirmed by urine pregnancy test); or
- Claustrophobia, or any other condition that would make the subject incapable of undergoing an MRI; or
- Tattoos that fall above the line defined by the crease of the elbow or on the genitals.
Trial locations and contacts
1 site in 1 country.
About this study
The goal of this observational study is to learn about the first signs of disease in young adult carriers of the gene for Huntington's disease. The main questions to answer are:
- what are the earliest signs of the disease?
- can we identify the best time to intervene with treatment to prevent or delay onset of symptoms?
- can we identify the most reliable markers of disease for use in prevention trials?
Participants will undergo the following assessments:
- clinical examination
- cognitive and neuropsychiatric testing
- brain imaging
- biofluid sampling
Researchers will compare gene carriers with matched controls to see if any of these measures show evidence of early disease effects.
Read the detailed description
We will undertake follow up assessments of the HD-YAS cohort comprising far-from-onset premanifest mutation carriers (preHD) (n=64) and controls, matched for age, sex and education (n=67). These assessments will occur approximately 4.5 and 6 years after their baseline assessment. They will include
- detailed clinical assessment
- cognitive testing using CANTAB and the EMOTICOM
- neuropsychiatric assessment
- neuroimaging including 3T volumetric MRI, NODDI, resting state fMRI and multiparametric mapping. A subset of 20 gene carriers and 20 controls will undergo 7T imaging
- blood and CSF sampling
We will compare change over time in preHD and control groups and model disease burden influence (an early natural history proxy) within the preHD group. These analyses will incorporate previous baseline measurements (providing three timepoints). We will create a data-driven natural history of pathological changes across the pre-clinical period in HD and estimate longitudinal models of age and CAG-dependence on the outcomes, providing a critical tool to increase power.
- Conditions
- Huntington Disease
- Being tested
- No intervention
- Medical subject headings
- Huntington Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
Study is observational
| Study group | Role | What they receive |
|---|---|---|
| Huntington's disease gene carriers | Individuals with a positive test for the HD gene who were more than 20 years from expected symptom onset at baseline assessment. Receives: Other: No intervention | |
| Controls | Healthy controls matched to the gene carrier group for age, sex and education Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Brain volume in ml
Global and regional measures of brain volume
Measured: Baseline, 4.5 years, 6 years
Biofluids in grams per litre
Blood and CSF measures
Measured: Baseline, 4.5 years, 6 years
Cognition (raw scores)
Cognitive tests including CANTAB and EMOTICOM
Measured: Baseline, 4.5 years, 6 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Apr 2024
- Study start6 Apr 2022
- Primary completion1 Dec 2025 (estimated)
- Study completion1 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Huntington DiseaseStudies of the same condition, open and under way.
- More trials run by University College, LondonThe 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
- 154 participants (actual)
Sponsor and investigators
- Lead sponsor
- University College, London
- Sponsor type
- University, hospital or other
- Collaborators
- University of Iowa, University of Cambridge, University of Glasgow
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06391619
- Sponsor's protocol ID
- 145646
- Acronym
- HD-YAS
- Status last verified
- Apr 2024
- First submitted
- 26 Jan 2024
- Last updated
- 30 Apr 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Farag M, Knights H, Scahill RI, McColgan P, Estevez-Fraga C. Neuroimaging Techniques in Huntington's Disease: A Critical Review. Mov Disord Clin Pract. 2025 May;12(5):561-576. doi: 10.1002/mdc3.70010. Epub 2025 Feb 20.
PubMed 39976324Scahill RI, Farag M, Murphy MJ, Hobbs NZ, Leocadi M, Langley C, Knights H, Ciosi M, Fayer K, Nakajima M, Thackeray O, Gobom J, Ronnholm J, Weiner S, Hassan YR, Ponraj NKP, Estevez-Fraga C, Parker CS, Malone IB, Hyare H, Long JD, Heslegrave A, Sampaio C, Zhang H, Robbins TW, Zetterberg H, Wild EJ, Rees G, Rowe JB, Sahakian BJ, Monckton DG, Langbehn DR, Tabrizi SJ. Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis. Nat Med. 2025 Mar;31(3):807-818. doi: 10.1038/s41591-024-03424-6. Epub 2025 Jan 17.
PubMed 39825149
Study at a glance
From the registry record, last updated by the sponsor on 30 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Huntington's Disease Young Adult Study 2.0
- ClinicalTrials.gov ID
- NCT06391619
- Acronym / sponsor ID
- HD-YAS / 145646
- Conditions
- Huntington Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 154 participants (actual)
- Lead sponsor
- University College, LondonUniversity, hospital or other
- Collaborators
- University of Iowa, University of Cambridge, University of Glasgow
- Study start
- 6 Apr 2022 (actual)
- Primary completion
- 1 Dec 2025 (estimated)
- Study completion
- 1 Dec 2025 (estimated)
- First posted
- 30 Apr 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 goal of this observational study is to learn about the first signs of disease in young adult carriers of the gene for Huntington's disease. The main questions to answer are:
- what are the earliest signs of the disease?
- can we identify the best time to intervene with treatment to prevent or delay onset of symptoms?
- can we identify the most reliable markers of disease for use in prevention trials?
Participants will undergo the following assessments:
- clinical examination
- cognitive and neuropsychiatric testing
- brain imaging
- biofluid sampling
Researchers will compare gene carriers with matched controls to see if any of these measures show evidence of early disease effects.
Detailed description
We will undertake follow up assessments of the HD-YAS cohort comprising far-from-onset premanifest mutation carriers (preHD) (n=64) and controls, matched for age, sex and education (n=67). These assessments will occur approximately 4.5 and 6 years after their baseline assessment. They will include
- detailed clinical assessment
- cognitive testing using CANTAB and the EMOTICOM
- neuropsychiatric assessment
- neuroimaging including 3T volumetric MRI, NODDI, resting state fMRI and multiparametric mapping. A subset of 20 gene carriers and 20 controls will undergo 7T imaging
- blood and CSF sampling
We will compare change over time in preHD and control groups and model disease burden influence (an early natural history proxy) within the preHD group. These analyses will incorporate previous baseline measurements (providing three timepoints). We will create a data-driven natural history of pathological changes across the pre-clinical period in HD and estimate longitudinal models of age and CAG-dependence on the outcomes, providing a critical tool to increase power.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Huntington's disease gene carriers | – | Other: No interventionIndividuals with a positive test for the HD gene who were more than 20 years from expected symptom onset at baseline assessment. |
| Controls | – | Other: No interventionHealthy controls matched to the gene carrier group for age, sex and education |
Who may qualify
- Ages
- 18 to 47 years
- Sex
- All
- Age groups
- Adult
- Study population
- Young adult Huntington's disease gene carriers and age-, sex- and education-matched controls between the ages of 18 and 47
Key inclusion criteria (12 listed)
- For the Healthy Control group, participants eligible are persons who meet the following criteria:
- Are capable of providing informed consent and
- Are capable of complying with study procedures and
- Are aged between 18-47 years old and
- Have no known family history of HD (gene negative); or
Key exclusion criteria (14 listed)
- Current use of investigational drugs or participation in a clinical drug trial within 30 days prior to study visit; or b. Current intoxication, drug or alcohol abuse or dependence; or c. If using any antidepressant, psychoactive, psychotropic or other medications or nutraceuticals used to treat HD, the use of inappropriate (e.g., non-therapeutically high) or unstable dose within 30 days prior to study visit; or d. Significant medical, neurological or psychiatric co-morbidity likely, in the judgment of the Principal Investigator, to impair participant's ability to complete essential study procedures; or e. Predictable non-compliance as assessed by the Principal Investigator; or f. Inability or unwillingness to undertake any of the essential study procedures; or g. Needle phobia: or h. Contraindication to MRI, including, but not limited to, MR-incompatible pacemakers, recent metallic implants, foreign body in the eye or other indications, as assessed by a standard pre-MRI questionnaire;or i. Pregnant (as confirmed by urine pregnancy test); or j. Claustrophobia, or any other condition that would make the subject incapable of undergoing an MRI.
- Needle phobia, frequent headache, significant lower spinal deformity or major surgery; or
- Antiplatelet or anticoagulant therapy within the 14 days prior to sampling visit, including but not limited to: aspirin, clopidogrel, dipyridamole, warfarin, dabigatran, rivaroxaban and apixaban; or
- Clotting or bruising disorder; or
- Screening blood test results outside the clinical laboratory's normal range for the following: white cell count, neutrophil count, lymphocyte count, haemoglobin (Hb), platelets, prothrombin time (PT) or activated partial thromboplastin time (APTT); or
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 |
|---|---|---|
| No interventionStudy is observational | Other | Controls, Huntington's disease gene carriers |
Primary outcome
Brain volume in ml
Time frame: Baseline, 4.5 years, 6 years
Global and regional measures of brain volume
Biofluids in grams per litre
Time frame: Baseline, 4.5 years, 6 years
Blood and CSF measures
Cognition (raw scores)
Time frame: Baseline, 4.5 years, 6 years
Cognitive tests including CANTAB and EMOTICOM
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Apr 2024.
- Derived from this study: PubMed 39976324Farag M, Knights H, Scahill RI, McColgan P, Estevez-Fraga C. Neuroimaging Techniques in Huntington's Disease: A Critical Review. Mov Disord Clin Pract. 2025 May;12(5):561-576. doi: 10.1002/mdc3.70010. Epub 2025 Feb 20.
- Derived from this study: PubMed 39825149Scahill RI, Farag M, Murphy MJ, Hobbs NZ, Leocadi M, Langley C, Knights H, Ciosi M, Fayer K, Nakajima M, Thackeray O, Gobom J, Ronnholm J, Weiner S, Hassan YR, Ponraj NKP, Estevez-Fraga C, Parker CS, Malone IB, Hyare H, Long JD, Heslegrave A, Sampaio C, Zhang H, Robbins TW, Zetterberg H, Wild EJ, Rees G, Rowe JB, Sahakian BJ, Monckton DG, Langbehn DR, Tabrizi SJ. Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis. Nat Med. 2025 Mar;31(3):807-818. doi: 10.1038/s41591-024-03424-6. Epub 2025 Jan 17.
- 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 University College, London at 1 site in United Kingdom.
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 12 inclusion and 14 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: status not confirmed, as of the sponsor's last update on 30 Apr 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 United Kingdom. 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?
Results are not available in the source record.
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?
Brain volume in ml (time frame: Baseline, 4.5 years, 6 years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06391619, which also lists 2 linked publications.
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 30 Apr 2024.