Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) (ATM)
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|ClinicalTrials.gov Identifier: NCT02857894|
Recruitment Status : Terminated (Mutations found do not modify the ATM protein+ modifications of methodology would be necessary)
First Posted : August 5, 2016
Last Update Posted : October 29, 2018
Polypoidal choriodal vasculopathy (PCV) is an ophthalmologic disease, characterized by vascular abnormalities of the walls of small choroidal vessels, reproducing the specific aspect of polyps (cluster aspect). PCV is one of the "boundary-forms" of age related macular degeneration.
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).
|Condition or disease|
|Study Type :||Observational|
|Actual Enrollment :||7 participants|
|Official Title:||Identification of the Predisposing Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated)|
|Actual Study Start Date :||November 5, 2015|
|Actual Primary Completion Date :||October 23, 2018|
|Actual Study Completion Date :||October 23, 2018|
- Variants in the ATM gene [ Time Frame: Day 1 ]Compared analysis of the variants frequency (heterozygote, homozygote variants versus the wild variant) in the ATM gene.
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Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02857894
|Fondation Ophtalmologique A. de Rotchschild|
|Paris, France, 75019|
|Principal Investigator:||Martine MAUGET FAYSSE||Fondation Ophtalmologique A. de Rothschild|