Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated)
NCT ID: NCT02857894
Last Updated: 2018-10-29
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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TERMINATED
7 participants
OBSERVATIONAL
2015-11-05
2018-10-23
Brief Summary
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These vasculopathies can be idiopathic. Following the radiotherapy treatments of active and occult-typed neovessels in Age-Related Macular Degeneration (ARMD), 10% of the patients would present typical polypoidal vasculopathic lesions. These polypoidal secondary lesions have been induced by radiotherapy treatment and may show an increased sensibility to radiation in these patients.
Such an increase of radiosensibility is noticed in ataxia telangiectasia syndrome, in relation to the ATM gene mutations. The secondary or idiopathic polypoidal vasculopathic lesions are to be brought closer to telangiectasias in Ataxia Telangiectasia. Considering the iatrogenic component of radiotherapy in the secondary forms of ataxia telangiectasia, it seems legitimate to search for predisposing variants to polypoidal vasculopathies in the ATM gene.
Considering the frequency of PCV worldwide, it seems important to identify the predisposing genetic factors of the ATM gene. These biomarkers to the pathology might enable us to offer prevention (reinforced protection against radiations, including light) and to develop therapeutics (recruitment of other kinases, ATM's partners, in the stability and cellular control of DNA).
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
* Polypoidal choriodal vasculopathy
* Informed written consent
Exclusion Criteria
* Absence of affiliation to social security or universal health coverage (CMU)
18 Years
ALL
No
Sponsors
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Fondation Ophtalmologique Adolphe de Rothschild
NETWORK
Responsible Party
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Principal Investigators
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Martine MAUGET FAYSSE
Role: PRINCIPAL_INVESTIGATOR
Fondation Ophtalmologique A. de Rothschild
Locations
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Fondation Ophtalmologique A. de Rotchschild
Paris, , France
Countries
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Other Identifiers
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MMT_2015_4
Identifier Type: -
Identifier Source: org_study_id
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