Study of Biomarkers That Predict the Evolution of Huntington's Disease (BIOHD)
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Purpose
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.
| Condition | Intervention |
|---|---|
|
Huntington Disease |
Other: Huntington patient evaluation Other: Healthy subject evaluation |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort Time Perspective: Prospective |
| Official Title: | Study of Biomarkers That Predict the Evolution of Huntington's Disease |
- UHDRS scale [ Time Frame: up to 9 years ] [ Designated as safety issue: Yes ]The period of follow-up will achieve at the end of 2020
- Mattis Dementia Rating Scale [ Time Frame: up to 9 years ] [ Designated as safety issue: No ]The period of follow-up will achieve at the end of 2020
- Trail Making test A et B [ Time Frame: up to 9 years ] [ Designated as safety issue: No ]The period of follow-up will achieve at the end of 2020
- Hopkins Verbal Learning Test [ Time Frame: up to 9 years ] [ Designated as safety issue: No ]The period of follow-up will achieve at the end of 2020
- Categorical Fluency [ Time Frame: up to 9 years ] [ Designated as safety issue: No ]The period of follow-up will achieve at the end of 2020
- Language tests [ Time Frame: up to 9 years ] [ Designated as safety issue: No ]The period of follow-up will achieve at the end of 2020
- Social cognition tests [ Time Frame: up to 9 years ] [ Designated as safety issue: No ]The period of follow-up will achieve at the end of 2020
- Comportment scale [ Time Frame: up to 9 years ] [ Designated as safety issue: No ]The period of follow-up will achieve at the end of 2020
- Neuroimaging [ Time Frame: up to 9 years ] [ Designated as safety issue: No ]The period of follow-up will achieve at the end of 2020
- Neuropsychological evaluation [ Time Frame: up to 9 years ] [ Designated as safety issue: No ]The period of follow-up will achieve at the end of 2020
- Electrophysiological tests [ Time Frame: up to 9 years ] [ Designated as safety issue: No ]The period of follow-up will achieve at the end of 2020
Biospecimen Retention: Samples With DNA
- Blood (for DNA analysis) and plasma sample at inclusion visit
- Plasma sample every year
| Estimated Enrollment: | 1800 |
| Study Start Date: | September 2003 |
| Estimated Study Completion Date: | January 2021 |
| Estimated Primary Completion Date: | January 2021 (Final data collection date for primary outcome measure) |
| Groups/Cohorts | Assigned Interventions |
|---|---|
|
Patient
Voluntary Huntington patients symptomatic or asymptomatic, with a number of CAG ≥36 and who know their genetic status
|
Other: Huntington patient evaluation
Neurological, neuropsychological, neuroimaging evaluation and biological sample
Other Name: Huntington patient evaluation
|
|
Healthy subject
Voluntary controls with no family history of huntington's disease
|
Other: Healthy subject evaluation
Neurological, neuropsychological, neuroimaging evaluation and biological sample
Other Name: Healthy subject evaluation
|
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.
Eligibility| Ages Eligible for Study: | 18 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Patients suffering from Huntington disease (carrying the gene) versus healthy controls
Inclusion Criteria (patient):
- 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
Exclusion Criteria (patient):
- Deterioration of the protocol preventing the understanding of the protocol
Inclusion Criteria (control):
- Voluntary controls with no family history of huntington's disease
- Control with a number of CAG <36
- Age greater than 18 years or equal to 18 years
- Control who provided written informed consent
Exclusion Criteria (control):
- Deterioration of the protocol preventing the understanding of the protocol
Contacts and Locations| Contact: Bachoud-Levi Anne-Catherine, PH | (0)1 49 81 23 01 ext +33 | bachoud@gmail.com |
| France | |
| Hôpital Henri Mondor | Recruiting |
| Creteil, France, 94010 | |
| Contact: Bachoud-Lévi Anne-Catherine, PH (0)1 49 81 23 01 ext +33 bachoud@gmail.com | |
| Principal Investigator: Bachoud-Lévi Anne-Catherine, PH | |
| Principal Investigator: | Bachoud-Lévi Anne-Catherine, PH | Assistance Publique - Hôpitaux de Paris |
More Information
No publications provided
| Responsible Party: | Assistance Publique - Hôpitaux de Paris |
| ClinicalTrials.gov Identifier: | NCT01412125 History of Changes |
| Other Study ID Numbers: | P090302 |
| Study First Received: | June 23, 2011 |
| Last Updated: | November 19, 2012 |
| Health Authority: | France: Ministry of Health |
Keywords provided by Assistance Publique - Hôpitaux de Paris:
|
Biomarkers Genetic polymorphism Neuroimaging markers Neuropsychology |
Additional relevant MeSH terms:
|
Huntington Disease Basal Ganglia Diseases Brain Diseases Central Nervous System Diseases Nervous System Diseases Dementia Chorea Dyskinesias |
Movement Disorders Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Genetic Diseases, Inborn Cognition Disorders Delirium, Dementia, Amnestic, Cognitive Disorders Mental Disorders |
ClinicalTrials.gov processed this record on May 19, 2013