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

NCT ID: NCT00763191

Last Updated: 2012-12-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Clinical Phase

NA

Total Enrollment

27 participants

Study Classification

INTERVENTIONAL

Study Start Date

2008-06-30

Study Completion Date

2009-09-30

Brief Summary

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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

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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).

Conditions

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Pre-mutation on FMR1 Gene

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SINGLE_GROUP

Primary Study Purpose

HEALTH_SERVICES_RESEARCH

Blinding Strategy

NONE

Interventions

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examination of ocular movements

Intervention Type OTHER

MATTIS test

Intervention Type OTHER

UPDRS test

Intervention Type OTHER

CRST test

Intervention Type OTHER

Eligibility Criteria

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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


* 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


* 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 (Magnetic Resonance Imaging), of a pathology either ischemic vascular or hemorrhagic or tumoral

FOR PATIENTS WITHOUT PRE-MUTATION ON FMR1 GENE (10 patients expected):


* 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):


* 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
Minimum Eligible Age

18 Years

Maximum Eligible Age

50 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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Nantes University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Laennec hospital, university hospital of Nantes

Nantes, , France

Site Status

Countries

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France

Other Identifiers

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07/10-Z

Identifier Type: -

Identifier Source: org_study_id