Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) (ATM)
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|ClinicalTrials.gov Identifier: NCT02857894|
Recruitment Status : Recruiting
First Posted : August 5, 2016
Last Update Posted : March 1, 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|
|Estimated Enrollment :||40 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|
|Estimated Primary Completion Date :||May 2018|
|Estimated Study Completion Date :||May 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.
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): NCT02857894
|Contact: Laurence Salomon, MDfirstname.lastname@example.org|
|Fondation Ophtalmologique A. de Rotchschild||Recruiting|
|Paris, France, 75019|
|Contact: Laurence Salomon, MD +33148036431 email@example.com|
|Principal Investigator: Martine Mauget-Faÿsse, MD|