Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)

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.

Study Overview

• Status: Terminated
• Conditions: Pre-mutation on FMR1 Gene
• Intervention / Treatment: Other: examination of ocular movements; Other: MATTIS test; Other: UPDRS test; Other: CRST test

Detailed Description

Patient will be followed at the Nantes hospital during half a day for :

• examination of ocular movements
• performing Neuro-psychological test (MATTIS)
• performing tests with scales of motricity (UPDRS, CRST, ICARS).

• Study Type: Interventional
• Enrollment (Actual): 27
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Nantes, France, 44093
    • Laennec hospital, university hospital of Nantes

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 50 years (Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Health Services Research
• Allocation: Non-Randomized
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation

Secondary Outcome Measures

Outcome Measure
Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients with multi-systematized atrophy
Analysis of the correlation between the genotype (number of CGG repetition) and the phenotype.
For subjects with FMR1 pre-mutation, comparison of the neuro-psychological test results to the oculo-motor abnormalities.

Collaborators and Investigators

• Sponsor: Nantes University Hospital

Study record dates

Study Major Dates

• Study Start: June 1, 2008
• Primary Completion (Actual): September 1, 2009
• Study Completion (Actual): September 1, 2009

Study Registration Dates

• First Submitted: September 29, 2008
• First Submitted That Met QC Criteria: September 29, 2008
• First Posted (Estimate): September 30, 2008

Study Record Updates

• Last Update Posted (Estimate): December 10, 2012
• Last Update Submitted That Met QC Criteria: December 7, 2012
• Last Verified: December 1, 2012

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neurodegenerative Diseases
• Other Study ID Numbers: 07/10-Z