Pre-mutation on FMR1 GeneNCT00763191
Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)
A study testing examination of ocular movements, MATTIS test and UPDRS test in people with Pre-mutation on FMR1 Gene, run by Nantes University Hospital at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 to 50 years, men only
- Conditions the study is for
- Pre-mutation on FMR1 Gene
- What is being tested?
- examination of ocular movements, MATTIS test and UPDRS test
- How many people
- 27 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2008to Sep 2009
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 50 years
- Men only
- No healthy volunteers
- Adult
Who may be able to join
- 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
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- 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
Who cannot join
- 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):
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- 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
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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).
- Conditions
- Pre-mutation on FMR1 Gene
- Being tested
- examination of ocular movements, MATTIS test, UPDRS test, CRST test
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
examination of ocular movementsOther
MATTIS testOther
UPDRS testOther
CRST testOther
What is being measured
The primary outcome is the main question the study is designed to answer.
Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation
Secondary outcomes (3)
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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Sep 2008 (estimated)
- Study startJun 2008
- Primary completionSep 2009
- Study completionSep 2009
Why it stopped: departure of the principal investigator and nobody else was able to continue this study.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pre-mutation on FMR1 GeneStudies of the same condition, open and under way.
- More trials run by Nantes University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Health services research
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 27 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00763191
- Sponsor's protocol ID
- 07/10-Z
- Status last verified
- Dec 2012
- First submitted
- 29 Sep 2008
- Last updated
- 10 Dec 2012
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Dec 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)
- ClinicalTrials.gov ID
- NCT00763191
- Acronym / sponsor ID
- 07/10-Z
- Conditions
- Pre-mutation on FMR1 Gene
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: departure of the principal investigator and nobody else was able to continue this study.
- Enrolment
- 27 participants (actual)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Study start
- Jun 2008
- Primary completion
- Sep 2009 (actual)
- Study completion
- Sep 2009 (actual)
- First posted
- 30 Sep 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Primary purpose
- Health services research
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
Who may qualify
- Ages
- 18 to 50 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (15 listed)
- 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
Key exclusion criteria (18 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| examination of ocular movements | Other | – |
| MATTIS test | Other | – |
| UPDRS test | Other | – |
| CRST test | Other | – |
Primary outcome
Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation
3 secondary outcomes
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.
Results and safety
The study was stopped early (reason given: departure of the principal investigator and nobody else was able to continue this study.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Dec 2012.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing examination of ocular movements, MATTIS test and UPDRS test in people with Pre-mutation on FMR1 Gene, run by Nantes University Hospital at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 15 inclusion and 18 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 10 Dec 2012. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: departure of the principal investigator and nobody else was able to continue this study.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Dec 2012.