Analysis of Oculo-motor Deficiencies Associated With FMR1... | NCT00763191

Status Module

Record Verification Date

Dec 2012

Overall Recruitment Status or Expanded Access Status

Terminated

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

departure of the principal investigator and nobody else was able to continue this study.

Expanded Access Info

Start Date

Jun 2008

Primary Completion Date

Sep 2009Actual

Completion Date

Sep 2009Actual

First Submitted Date

Sep 29, 2008

First Submission Date that Met QC Criteria

Sep 29, 2008

First Posted Date

Sep 30, 2008Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Dec 7, 2012

Last Update Posted Date

Dec 10, 2012Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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).

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

27Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation

Secondary Outcomes

Measure	Description	Time Frame
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.

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

Male

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

50 Years

Standard Ages

Adult

Study Population

Not provided

Sampling Method

Not provided

Name	Type	Description	Arm Group Labels	Other Names
examination of ocular movements	Other
MATTIS test	Other
UPDRS test	Other
CRST test	Other