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

Sponsor

Fondation Ophtalmologique Adolphe de Rothschild (Other)

Overall Status

Terminated

CT.gov ID

NCT02857894

Collaborator

(none)

Enrollment

Location

35.6

Actual Duration (Months)

0.2

Patients Per Site Per Month

Study Details

Study Description

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).

Condition or Disease	Intervention/Treatment	Phase
Choroidal Neovascularization

Study Design

Study Type:

Observational

Actual Enrollment :

7 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Nov 5, 2015

Actual Primary Completion Date :

Oct 23, 2018

Actual Study Completion Date :

Oct 23, 2018

Outcome Measures

Primary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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)

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Fondation Ophtalmologique A. de Rotchschild	Paris		France	75019

Sponsors and Collaborators

Fondation Ophtalmologique Adolphe de Rothschild

Investigators

Principal Investigator: Martine MAUGET FAYSSE, Fondation Ophtalmologique A. de Rothschild

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Fondation Ophtalmologique Adolphe de Rothschild

ClinicalTrials.gov Identifier:

NCT02857894

Other Study ID Numbers:

MMT_2015_4

First Posted:

Aug 5, 2016

Last Update Posted:

Oct 29, 2018

Last Verified:

Oct 1, 2018

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by Fondation Ophtalmologique Adolphe de Rothschild

Polypoidal choroidal vasculopathy

Additional relevant MeSH terms:

Ataxia Telangiectasia

Choroidal Neovascularization

Telangiectasis

Vascular Diseases

Neovascularization, Pathologic

Study Results

No Results Posted as of Oct 29, 2018