Study of Biomarkers That Predict the Evolution of Huntington's Disease

Huntington Disease Clinical Trial

— BIOHD  

Official title:

Study of Biomarkers That Predict the Evolution of Huntington's Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01412125
• Other study ID #: P090302
• Status: Recruiting
• Phase: N/A
• First received: June 23, 2011
• Last updated: October 8, 2014
• Start date: September 2003
• Est. completion date: January 2021

Study information

• Verified date: October 2014
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Bachoud-Levi Anne-Catherine, PH
• Phone: (0)1 49 81 23 01
• Email: bachoud[@]gmail.com
• Is FDA regulated: No
• Health authority: France: Ministry of Health
• Study type: Observational

Clinical 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 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1800
• Est. completion date: January 2021
• Est. primary completion date: January 2021
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 18 Years and older

Eligibility

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

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Huntington Disease

Intervention

Other:
• Huntington patient evaluation
Neurological, neuropsychological, neuroimaging evaluation and biological sample
• Healthy subject evaluation
Neurological, neuropsychological, neuroimaging evaluation and biological sample

Locations

Country	Name	City	State
France	Hôpital Henri Mondor	Creteil

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Unified Huntington Disease Rating Scale (UHDRS)	The period of follow-up will achieve at the end of 2020	up to 9 years	Yes
Secondary	Mattis Dementia Rating Scale	The period of follow-up will achieve at the end of 2020	up to 9 years	No
Secondary	Trail Making test A et B	The period of follow-up will achieve at the end of 2020	up to 9 years	No
Secondary	Hopkins Verbal Learning Test	The period of follow-up will achieve at the end of 2020	up to 9 years	No
Secondary	Categorical Fluency	The period of follow-up will achieve at the end of 2020	up to 9 years	No
Secondary	Language tests	The period of follow-up will achieve at the end of 2020	up to 9 years	No
Secondary	Social cognition tests	The period of follow-up will achieve at the end of 2020	up to 9 years	No
Secondary	Comportment scale	The period of follow-up will achieve at the end of 2020	up to 9 years	No
Secondary	Neuroimaging	The period of follow-up will achieve at the end of 2020	up to 9 years	No
Secondary	Neuropsychological evaluation	The period of follow-up will achieve at the end of 2020	up to 9 years	No
Secondary	Electrophysiological tests	The period of follow-up will achieve at the end of 2020	up to 9 years	No