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Clinical Trials/NCT00763191
NCT00763191TerminatedNot Applicable

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

Nantes University Hospital2 sites in 1 country27 target enrollmentStarted: June 1, 2008Last updated:
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Conditions

Trial Snapshot

Phase
Not Applicable
Status
Terminated
Enrollment
27
Locations
2
Primary Endpoint
Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation
Study OverviewStudy DesignEligibility CriteriaOutcomesInvestigatorsSitesRecords & IdentifiersSimilar Trials

Study Overview

Brief Summary

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.

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 Design

Study Type
Interventional
Allocation
Non Randomized
Intervention Model
Single Group
Primary Purpose
Health Services Research
Masking
None

Eligibility Criteria

Ages
18 Years to 50 Years (Adult)
Sex
Male
Accepts Healthy Volunteers
No

Inclusion Criteria

  • •FOR PATIENTS WITH PREMUTATION ON FMR1 GENE (30 patients expected):
  • •Inclusion criteria:
  • •> 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

  • •<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:
  • •> 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:
  • •<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:
  • •> 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:
  • •<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

Outcomes

Primary Outcomes

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

Secondary Outcomes

  • 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.

Investigators

Sponsor Class
Other
Responsible Party
Sponsor

Study Sites (2)

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