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Study of Biomarkers That Predict the Evolution of Huntington's Disease (BIOHD)

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ClinicalTrials.gov Identifier: NCT01412125
Recruitment Status : Recruiting
First Posted : August 9, 2011
Last Update Posted : October 9, 2014
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Tracking Information
First Submitted Date June 23, 2011
First Posted Date August 9, 2011
Last Update Posted Date October 9, 2014
Study Start Date September 2003
Estimated Primary Completion Date January 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 1, 2013)
Unified Huntington Disease Rating Scale (UHDRS) [ Time Frame: up to 9 years ]
The period of follow-up will achieve at the end of 2020
Original Primary Outcome Measures
 (submitted: August 5, 2011)
UHDRS scale [ Time Frame: up to 9 years ]
The period of follow-up will achieve at the end of 2020
Change History Complete list of historical versions of study NCT01412125 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: August 5, 2011)
  • Mattis Dementia Rating Scale [ Time Frame: up to 9 years ]
    The period of follow-up will achieve at the end of 2020
  • Trail Making test A et B [ Time Frame: up to 9 years ]
    The period of follow-up will achieve at the end of 2020
  • Hopkins Verbal Learning Test [ Time Frame: up to 9 years ]
    The period of follow-up will achieve at the end of 2020
  • Categorical Fluency [ Time Frame: up to 9 years ]
    The period of follow-up will achieve at the end of 2020
  • Language tests [ Time Frame: up to 9 years ]
    The period of follow-up will achieve at the end of 2020
  • Social cognition tests [ Time Frame: up to 9 years ]
    The period of follow-up will achieve at the end of 2020
  • Comportment scale [ Time Frame: up to 9 years ]
    The period of follow-up will achieve at the end of 2020
  • Neuroimaging [ Time Frame: up to 9 years ]
    The period of follow-up will achieve at the end of 2020
  • Neuropsychological evaluation [ Time Frame: up to 9 years ]
    The period of follow-up will achieve at the end of 2020
  • Electrophysiological tests [ Time Frame: up to 9 years ]
    The period of follow-up will achieve at the end of 2020
Original Secondary Outcome Measures Same as current
Current Other Outcome Measures Not Provided
Original Other Outcome Measures Not Provided
 
Descriptive Information
Brief Title Study of Biomarkers That Predict the Evolution of Huntington's Disease
Official Title Study of Biomarkers That Predict the Evolution of Huntington's Disease
Brief 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 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:

  1. identification of the genetic polymorphism which may explain the phenotypic variability seeing in Huntington's disease
  2. 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 Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
  • Blood (for DNA analysis) and plasma sample at inclusion visit
  • Plasma sample every year
Sampling Method Non-Probability Sample
Study Population Patients suffering from Huntington disease (carrying the gene) versus healthy controls
Condition Huntington Disease
Intervention
  • Other: Huntington patient evaluation
    Neurological, neuropsychological, neuroimaging evaluation and biological sample
  • Other: Healthy subject evaluation
    Neurological, neuropsychological, neuroimaging evaluation and biological sample
Study Groups/Cohorts
  • Patient
    Voluntary Huntington patients symptomatic or asymptomatic, with a number of nucleotide expansion(CAG) ≥36 and who know their genetic status
    Intervention: Other: Huntington patient evaluation
  • Healthy subject
    Voluntary controls with no family history of huntington's disease
    Intervention: Other: Healthy subject evaluation
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: August 5, 2011)
1800
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 2021
Estimated Primary Completion Date January 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

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

Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Bachoud-Levi Anne-Catherine, PH (0)1 49 81 23 01 ext +33 bachoud@gmail.com
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT01412125
Other Study ID Numbers P090302
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Assistance Publique - Hôpitaux de Paris
Study Sponsor Assistance Publique - Hôpitaux de Paris
Collaborators Not Provided
Investigators
Principal Investigator: Bachoud-Lévi Anne-Catherine, PH Assistance Publique - Hôpitaux de Paris
PRS Account Assistance Publique - Hôpitaux de Paris
Verification Date October 2014