Pre-mutation on FMR1 Gene Clinical Trial
Official title:
Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)
| Verified date | December 2012 |
| Source | Nantes University Hospital |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | France: Direction Générale de la Santé |
| Study type | Interventional |
The specific aim of this study is to compare ocular movements abnormalities between males with pre-mutation on FRM1 gene (symptomatic or asymptomatic on the motor plan and/or on the cognitive plan), males without the pre-mutation and males with multi-systematized atrophy, in order to identify the neuronal structures implicated in this pathology.
| Status | Terminated |
| Enrollment | 27 |
| Est. completion date | September 2009 |
| Est. primary completion date | September 2009 |
| Accepts healthy volunteers | No |
| Gender | Male |
| Age group | 18 Years to 50 Years |
| Eligibility |
FOR PATIENTS WITH PREMUTATION ON FMR1 GENE (30 patients expected): Inclusion criteria: - Male - > or equal to 50 years old - Ally second or third degree with a child affected of "fragile X" - Not living far from Nantes so that visits to the Nantes hospital can be easy - Pre-mutation on FMR1 gene - Signed informed consent Exclusion criteria: - Female - <50 years old - visual acuteness < 1/10 - MATTIS dementia scale <100 (normal:144) - Occurrence, shown by MRI (Magnetic Resonance Imaging), of a pathology either ischemic vascular or hemorrhagic or tumoral FOR PATIENTS WITHOUT PRE-MUTATION ON FMR1 GENE (10 patients expected): Inclusion criteria: - Male - > or equal to 50 years old - Ally second or third degree with a child affected of "fragile X" - Not living far from Nantes so that visits to the Nantes hospital can be easy - Signed informed consent Exclusion criteria: - Female - <50 years old - visual acuteness < 1/10 - MATTIS dementia scale <100 (normal:144) - Pre-mutation on FMR1 gene - Occurrence, shown by MRI, of a pathology either ischemic vascular or hemorrhagic or tumoral FOR PATIENTS WITH MULTI-SYSTEMATIZED ATROPHY (10 patients expected): Inclusion criteria: - Male - > or equal to 50 years old - Not living far from Nantes so that visits to the Nantes hospital can be easy - "probable" diagnosis of multi-systematized atrophy - Signed informed consent Exclusion Criteria: - Female - <50 years old - visual acuteness < 1/10 - MATTIS dementia scale <100 (normal:144) - Occurrence, shown by MRI, of a pathology either ischemic vascular or hemorrhagic or tumoral |
Allocation: Non-Randomized, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Health Services Research
| Country | Name | City | State |
|---|---|---|---|
| France | Laennec hospital, university hospital of Nantes | Nantes |
| Lead Sponsor | Collaborator |
|---|---|
| Nantes University Hospital |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation | No | ||
| Secondary | Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients with multi-systematized atrophy | No | ||
| Secondary | Analysis of the correlation between the genotype (number of CGG repetition) and the phenotype. | No | ||
| Secondary | For subjects with FMR1 pre-mutation, comparison of the neuro-psychological test results to the oculo-motor abnormalities. | No |