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

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2014 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01412125
First received: June 23, 2011
Last updated: October 8, 2014
Last verified: October 2014
  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

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • Unified Huntington Disease Rating Scale (UHDRS) [ Time Frame: up to 9 years ] [ Designated as safety issue: Yes ]
    The period of follow-up will achieve at the end of 2020


Secondary Outcome Measures:
  • 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 nucleotide expansion(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:

  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.
  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Patients suffering from Huntington disease (carrying the gene) versus healthy controls

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

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01412125

Contacts
Contact: Bachoud-Levi Anne-Catherine, PH (0)1 49 81 23 01 ext +33 bachoud@gmail.com

Locations
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         
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
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: October 8, 2014
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
Movement Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Cognition Disorders
Delirium, Dementia, Amnestic, Cognitive Disorders
Mental Disorders
Dementia
Chorea
Dyskinesias

ClinicalTrials.gov processed this record on October 19, 2014