Huntington DiseaseBIOHDNCT01412125
Study of Biomarkers That Predict the Evolution of Huntington's Disease
An observational study of Huntington Disease, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Huntington's disease (HD) is a rare, autosomal dominant, progressive neurodegenerative disorder typically becoming noticeable in middle age. It is clinically characterized by progressive involuntary movements (bradykinesia and hyperkinesia), neuropsychiatric disturbances (depression, irritability), and cognitive… 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
- What is being tested?
- Huntington patient evaluation and Healthy subject evaluation
- How many people
- 1,800 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2003to Jan 2021
- 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
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients suffering from Huntington disease (carrying the gene) versus healthy controls
Who may be able to join
- Voluntary patients symptomatic or asymptomatic
- Patient with a number of CAG ≥36)
- Patient who know his genetic status
- Age greater than 18 years or equal to 18 years
- Patient who provided written informed consent
- Voluntary controls with no family history of huntington's disease
Show all 9Show fewer
- Control with a number of CAG <36
- Age greater than 18 years or equal to 18 years
- Control who provided written informed consent
Who cannot join
- Deterioration of the protocol preventing the understanding of the protocol
- Deterioration of the protocol preventing the understanding of the protocol
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Hôpital Henri Mondor
Créteil, 94010
Bachoud-Lévi Anne-Catherine, PH, (0)1 49 81 23 01 ext. +33, bachoud@gmail.com
Bachoud-Lévi Anne-Catherine, PH
About this study
Huntington's disease (HD) is a rare, autosomal dominant, progressive neurodegenerative disorder typically becoming noticeable in middle age. It is clinically characterized by progressive involuntary movements (bradykinesia and hyperkinesia), neuropsychiatric disturbances (depression, irritability), and cognitive impairments progressing to dementia.
The striatum (caudate and putamen) is the primary area of neuronal degeneration in HD. Today, there is no validated curative treatment. HD affects approximately 6 000 patients in France and more than 30 000 individuals are considered at risk for this disease.
Read more
While the disease gene is discovered and we are capable to do a predictive genetic diagnosis for asymptomatic patients, there is no clinical or biological way to predict the age of onset or the progressive profile of patients.
One of the fundamental characteristics of this disease is its extreme variability from one patient to other both in terms of their evolution and their onset of action. Thus, this inter-individual variability severely limits the genetic counselling and complicating the neurological assessment.
Increasingly, it has been assumed that modifier genes may be the source of this inter-individual variability and that their identification could help the understanding and prediction of disease progression.
Given that the mutant protein is ubiquitous, the molecular dysfunction of neurons could be found in peripheral cells from the bloodstream and will be more accessible to investigation.
Read the detailed description
In this context, we propose to focus our research not only on biological and genetic markers but also on neuroimaging and neuropsychological markers using paradigms of time reactions or measurement of evoked potentials. We hope to identify sensitive markers of the degenerative process of Huntington's disease even when patients carrying the gene may or may not have reported the disease.
The project is centered on 2 axes:
- identification of the genetic polymorphism which may explain the phenotypic variability seeing in Huntington's disease
- identification of biological, genetic and imaging biomarkers that could be used as predictors of clinical progression of Huntington's disease This research is based on the existence of a well followed and well characterized cohort of patients through the Francophone Huntington Network ("RESEAU HUNTINGTON de LANGUE FRANCAISE", RHLF). Therefore, this will help to combine the clinical and biological expertise of RHLF.
- Conditions
- Huntington Disease
- Being tested
- Huntington patient evaluation, Healthy subject evaluation
- Keywords
- Biomarkers, Genetic polymorphism, Neuroimaging markers, Neuropsychology
- Medical subject headings
- Huntington Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Huntington patient evaluationOther
Neurological, neuropsychological, neuroimaging evaluation and biological sample
Healthy subject evaluationOther
Neurological, neuropsychological, neuroimaging evaluation and biological sample
| Study group | Role | What they receive |
|---|---|---|
| Patient | Voluntary Huntington patients symptomatic or asymptomatic, with a number of nucleotide expansion(CAG) ≥36 and who know their genetic status Receives: Other: Huntington patient evaluation | |
| Healthy subject | Voluntary controls with no family history of huntington's disease Receives: Other: Healthy subject evaluation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Unified Huntington Disease Rating Scale (UHDRS)
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Secondary outcomes (10)
Mattis Dementia Rating Scale
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Trail Making test A et B
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Hopkins Verbal Learning Test
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Categorical Fluency
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Language tests
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Social cognition tests
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Comportment scale
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Neuroimaging
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Neuropsychological evaluation
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Electrophysiological tests
The period of follow-up will achieve at the end of 2020
Measured: up to 9 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Aug 2011 (estimated)
- Study startSep 2003
- Primary completionJan 2021 (estimated)
- Study completionJan 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)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 Assistance Publique - Hôpitaux de ParisThe 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
- 1,800 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Bachoud-Lévi Anne-Catherine, PH, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01412125
- Sponsor's protocol ID
- P090302
- Acronym
- BIOHD
- Status last verified
- Oct 2014
- First submitted
- 23 Jun 2011
- Last updated
- 9 Oct 2014
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Chenain L, Riad R, Fraisse N, Jubin C, Morgado G, Youssov K, Lunven M, Bachoud-Levi AC. Graph methods to infer spatial disturbances: Application to Huntington's Disease's speech. Cortex. 2024 Jul;176:144-160. doi: 10.1016/j.cortex.2024.04.014. Epub 2024 May 17.
PubMed 38795650
Study at a glance
From the registry record, last updated by the sponsor on 9 Oct 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Biomarkers That Predict the Evolution of Huntington's Disease
- ClinicalTrials.gov ID
- NCT01412125
- Acronym / sponsor ID
- BIOHD / P090302
- Conditions
- Huntington Disease
- Keywords
- Biomarkers, Genetic polymorphism, Neuroimaging markers, Neuropsychology
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,800 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Sep 2003
- Primary completion
- Jan 2021 (estimated)
- Study completion
- Jan 2021 (estimated)
- First posted
- 9 Aug 2011 (estimated)
- 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.
Huntington's disease (HD) is a rare, autosomal dominant, progressive neurodegenerative disorder typically becoming noticeable in middle age. It is clinically characterized by progressive involuntary movements (bradykinesia and hyperkinesia), neuropsychiatric disturbances (depression, irritability), and cognitive impairments progressing to dementia.
The striatum (caudate and putamen) is the primary area of neuronal degeneration in HD. Today, there is no validated curative treatment. HD affects approximately 6 000 patients in France and more than 30 000 individuals are considered at risk for this disease.
While the disease gene is discovered and we are capable to do a predictive genetic diagnosis for asymptomatic patients, there is no clinical or biological way to predict the age of onset or the progressive profile of patients.
One of the fundamental characteristics of this disease is its extreme variability from one patient to other both in terms of their evolution and their onset of action. Thus, this inter-individual variability severely limits the genetic counselling and complicating the neurological assessment.
Increasingly, it has been assumed that modifier genes may be the source of this inter-individual variability and that their identification could help the understanding and prediction of disease progression.
Given that the mutant protein is ubiquitous, the molecular dysfunction of neurons could be found in peripheral cells from the bloodstream and will be more accessible to investigation.
Detailed description
In this context, we propose to focus our research not only on biological and genetic markers but also on neuroimaging and neuropsychological markers using paradigms of time reactions or measurement of evoked potentials. We hope to identify sensitive markers of the degenerative process of Huntington's disease even when patients carrying the gene may or may not have reported the disease.
The project is centered on 2 axes:
- identification of the genetic polymorphism which may explain the phenotypic variability seeing in Huntington's disease
- identification of biological, genetic and imaging biomarkers that could be used as predictors of clinical progression of Huntington's disease This research is based on the existence of a well followed and well characterized cohort of patients through the Francophone Huntington Network ("RESEAU HUNTINGTON de LANGUE FRANCAISE", RHLF). Therefore, this will help to combine the clinical and biological expertise of RHLF.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patient | – | Other: Huntington patient evaluationVoluntary Huntington patients symptomatic or asymptomatic, with a number of nucleotide expansion(CAG) ≥36 and who know their genetic status |
| Healthy subject | – | Other: Healthy subject evaluationVoluntary controls with no family history of huntington's disease |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients suffering from Huntington disease (carrying the gene) versus healthy controls
Key inclusion criteria (9 listed)
- Voluntary patients symptomatic or asymptomatic
- Patient with a number of CAG ≥36)
- Patient who know his genetic status
- Age greater than 18 years or equal to 18 years
- Patient who provided written informed consent
Key exclusion criteria (2 listed)
- Deterioration of the protocol preventing the understanding of the protocol
- Deterioration of the protocol preventing the understanding of the protocol
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 |
|---|---|---|
| Huntington patient evaluationNeurological, neuropsychological, neuroimaging evaluation and biological sample | Other | Patient |
| Healthy subject evaluationNeurological, neuropsychological, neuroimaging evaluation and biological sample | Other | Healthy subject |
Primary outcome
Unified Huntington Disease Rating Scale (UHDRS)
Time frame: up to 9 years
The period of follow-up will achieve at the end of 2020
10 secondary outcomes
Mattis Dementia Rating Scale
Time frame: up to 9 years
Trail Making test A et B
Time frame: up to 9 years
Hopkins Verbal Learning Test
Time frame: up to 9 years
Categorical Fluency
Time frame: up to 9 years
Language tests
Time frame: up to 9 years
Social cognition tests
Time frame: up to 9 years
Comportment scale
Time frame: up to 9 years
Neuroimaging
Time frame: up to 9 years
Neuropsychological evaluation
Time frame: up to 9 years
Electrophysiological tests
Time frame: up to 9 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Oct 2014.
- Derived from this study: PubMed 38795650Chenain L, Riad R, Fraisse N, Jubin C, Morgado G, Youssov K, Lunven M, Bachoud-Levi AC. Graph methods to infer spatial disturbances: Application to Huntington's Disease's speech. Cortex. 2024 Jul;176:144-160. doi: 10.1016/j.cortex.2024.04.014. Epub 2024 May 17.
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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.
Bachoud-Lévi Anne-Catherine, PH principal investigator
Assistance Publique - Hôpitaux de Paris
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 Assistance Publique - Hôpitaux de Paris at 1 site in France.
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 9 inclusion and 2 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 9 Oct 2014. 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 France. 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?
Contact Bachoud-Levi Anne-Catherine, PH ((0)1 49 81 23 01 ext. +33, bachoud@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Unified Huntington Disease Rating Scale (UHDRS) (time frame: up to 9 years). 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 NCT01412125, which also lists 1 linked publication.
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 9 Oct 2014.