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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:
Information provided by (Responsible Party):
Nantes University Hospital
ClinicalTrials.gov Identifier:
NCT00763191
First received: September 29, 2008
Last updated: December 7, 2012
Last verified: December 2012
History of Changes
  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: 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:

U.S. FDA Resources

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 [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients with multi-systematized atrophy [ Designated as safety issue: No ]
  • Analysis of the correlation between the genotype (number of CGG repetition) and the phenotype. [ Designated as safety issue: No ]
  • For subjects with FMR1 pre-mutation, comparison of the neuro-psychological test results to the oculo-motor abnormalities. [ Designated as safety issue: No ]

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

Ages Eligible for Study:   18 Years to 50 Years
Genders 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
Please refer to this study by its ClinicalTrials.gov identifier: NCT00763191

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

No publications provided

Responsible Party: Nantes University Hospital
ClinicalTrials.gov Identifier: NCT00763191     History of Changes
Other Study ID Numbers: 07/10-Z
Study First Received: September 29, 2008
Last Updated: December 7, 2012
Health Authority: France: Direction Générale de la Santé

Additional relevant MeSH terms:
Congenital Abnormalities
Neurodegenerative Diseases
Nervous System Diseases

ClinicalTrials.gov processed this record on May 22, 2013