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

NCT ID: NCT01412125

Last Updated: 2014-10-09

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 1800 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2003-09-30
• Study Completion Date: 2021-01-31

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.

Conditions

Huntington Disease

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Patient

Voluntary Huntington patients symptomatic or asymptomatic, with a number of nucleotide expansion(CAG) ≥36 and who know their genetic status

Huntington patient evaluation

Intervention Type: OTHER

Neurological, neuropsychological, neuroimaging evaluation and biological sample

Healthy subject

Voluntary controls with no family history of huntington's disease

Healthy subject evaluation

Intervention Type: OTHER

Neurological, neuropsychological, neuroimaging evaluation and biological sample

Interventions

Huntington patient evaluation

Neurological, neuropsychological, neuroimaging evaluation and biological sample

Intervention Type: OTHER

Healthy subject evaluation

Neurological, neuropsychological, neuroimaging evaluation and biological sample

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• 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
• 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

• Deterioration of the protocol preventing the understanding of the protocol

• Deterioration of the protocol preventing the understanding of the protocol

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Bachoud-Lévi Anne-Catherine, PH

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Locations

Hôpital Henri Mondor

Créteil, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Bachoud-Levi Anne-Catherine, PH

Role: CONTACT

bachoud@gmail.com

(0)1 49 81 23 01 ext. +33

Facility Contacts

Bachoud-Lévi Anne-Catherine, PH

Role: primary

bachoud@gmail.com

(0)1 49 81 23 01 ext. +33

References

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.

Reference Type: DERIVED

PMID: 38795650 (View on PubMed)

Other Identifiers

P090302

Identifier Type: -

Identifier Source: org_study_id