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

Primary Purpose

Pre-mutation on FMR1 Gene

Status
Terminated
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
examination of ocular movements
MATTIS test
UPDRS test
CRST test
Sponsored by
Nantes University Hospital
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an interventional health services research trial for Pre-mutation on FMR1 Gene

Eligibility Criteria

18 Years - 50 Years (Adult)MaleDoes not accept healthy volunteers

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

Sites / Locations

  • Laennec hospital, university hospital of Nantes

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

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.

Full Information

First Posted
September 29, 2008
Last Updated
December 7, 2012
Sponsor
Nantes University Hospital
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1. Study Identification

Unique Protocol Identification Number
NCT00763191
Brief Title
Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)
Official Title
Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)
Study Type
Interventional

2. Study Status

Record Verification Date
December 2012
Overall Recruitment Status
Terminated
Why Stopped
departure of the principal investigator and nobody else was able to continue this study.
Study Start Date
June 2008 (undefined)
Primary Completion Date
September 2009 (Actual)
Study Completion Date
September 2009 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Nantes University Hospital

4. Oversight

Data Monitoring Committee
No

5. Study Description

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).

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pre-mutation on FMR1 Gene

7. Study Design

Primary Purpose
Health Services Research
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
27 (Actual)

8. Arms, Groups, and Interventions

Intervention Type
Other
Intervention Name(s)
examination of ocular movements
Intervention Type
Other
Intervention Name(s)
MATTIS test
Intervention Type
Other
Intervention Name(s)
UPDRS test
Intervention Type
Other
Intervention Name(s)
CRST test
Primary Outcome Measure Information:
Title
Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation
Secondary Outcome Measure Information:
Title
Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients with multi-systematized atrophy
Title
Analysis of the correlation between the genotype (number of CGG repetition) and the phenotype.
Title
For subjects with FMR1 pre-mutation, comparison of the neuro-psychological test results to the oculo-motor abnormalities.

10. Eligibility

Sex
Male
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
50 Years
Accepts Healthy Volunteers
No
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
Facility Information:
Facility Name
Laennec hospital, university hospital of Nantes
City
Nantes
ZIP/Postal Code
44093
Country
France

12. IPD Sharing Statement

Learn more about this trial

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

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