Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated)

Terminated

• Conditions: Choroidal Neovascularization

• Registration Number: NCT02857894
• Lead Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

Brief Summary

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).

Detailed Description

Not available

Study Timeline

• Study Start: 2015-11-05
• Study First Submitted: 2016-08-03
• Study First Submitted QC: 2016-08-03
• Study First Posted: 2016-08-05
• Status Verified: 2018-10
• Primary Completion: 2018-10-23
• Study Completion: 2018-10-23
• Last Update Submitted: 2018-10-26
• Last Update Posted: 2018-10-29

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 7

Inclusion Criteria

• Adult caucasian patient
• Polypoidal choriodal vasculopathy
• Informed written consent

Exclusion Criteria

• History of cephalic radiotherapy
• Absence of affiliation to social security or universal health coverage (CMU)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Variants in the ATM gene	Day 1	Compared analysis of the variants frequency (heterozygote, homozygote variants versus the wild variant) in the ATM gene.

Trial Locations

Locations (1)

Fondation Ophtalmologique A. de Rotchschild; 🇫🇷 Paris, France