Informations générales (source: ClinicalTrials.gov)
Study of Biomarkers That Predict the Evolution of Huntington's Disease
Observational
Assistance Publique - Hôpitaux de Paris (Voir sur ClinicalTrials)
septembre 2003
janvier 2021
03 décembre 2025
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.
Etablissements
| Les établissements d'Île-de-France ayant mis à jour leurs données Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP Assistance publique - Hôpitaux de Paris | 13/12/2025 07:46:10 | Contacter | |||
| AP-HP - Hôpital Henri Mondor-Albert Chenevier | |||||
| AP-HP - Hôpital La Pitié-Salpêtrière | |||||
Critères
Tous
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
- 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