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

NCT02857894 | Terminated

• 1 other identifier: MMT_2015_4
• Study Type: observational
• Target: 7
• Locations: 1 country
• Sites: 1

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).

Conditions

Choroidal Neovascularization

Keywords

Polypoidal choroidal vasculopathy

Outcome Measures

Primary Outcomes (1)

• Variants in the ATM gene

  Compared analysis of the variants frequency (heterozygote, homozygote variants versus the wild variant) in the ATM gene.

  Day 1

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with polypoidal choriodal vasculopathy

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Fondation Ophtalmologique Adolphe de Rothschild: lead

Study Sites (1)

Fondation Ophtalmologique A. de Rotchschild

Paris, 75019, France

Location

MeSH Terms

Conditions

Choroidal Neovascularization; Polypoidal Choroidal Vasculopathy

Condition Hierarchy (Ancestors)

Choroid Diseases; Uveal Diseases; Eye Diseases; Neovascularization, Pathologic; Metaplasia; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Martine MAUGET FAYSSE

  Fondation Ophtalmologique A. de Rothschild

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 3, 2016
• First Posted: August 5, 2016
• Study Start: November 5, 2015
• Primary Completion: October 23, 2018
• Study Completion: October 23, 2018
• Last Updated: October 29, 2018

Record last verified: 2018-10

Locations

FR (1)