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

This study has been terminated.
(departure of the principal investigator and nobody else was able to continue this study.)
Sponsor:
ClinicalTrials.gov Identifier:
NCT00763191
First Posted: September 30, 2008
Last Update Posted: December 10, 2012
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Nantes University Hospital
  Purpose
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.

Condition Intervention
Pre-mutation on FMR1 Gene Other: examination of ocular movements Other: MATTIS test Other: UPDRS test Other: CRST test

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Health Services Research
Official Title: Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)

Resource links provided by NLM:


Further study details as provided by Nantes University Hospital:

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.

Enrollment: 27
Study Start Date: June 2008
Study Completion Date: September 2009
Primary Completion Date: September 2009 (Final data collection date for primary outcome measure)
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).
  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 50 Years   (Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
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
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00763191


Locations
France
Laennec hospital, university hospital of Nantes
Nantes, France, 44093
Sponsors and Collaborators
Nantes University Hospital
  More Information

Responsible Party: Nantes University Hospital
ClinicalTrials.gov Identifier: NCT00763191     History of Changes
Other Study ID Numbers: 07/10-Z
First Submitted: September 29, 2008
First Posted: September 30, 2008
Last Update Posted: December 10, 2012
Last Verified: December 2012

Additional relevant MeSH terms:
Neurodegenerative Diseases
Nervous System Diseases