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

Choroidal Neovascularization Clinical Trial

— ATM  

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT02857894
• Other study ID #: MMT_2015_4
• Status: Terminated
• Start date: November 5, 2015
• Est. completion date: October 23, 2018

Study information

• Verified date: October 2018
• Source: Fondation Ophtalmologique Adolphe de Rothschild
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 7
• Est. completion date: October 23, 2018
• Est. primary completion date: October 23, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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)

Related Conditions & MeSH terms

• Ataxia Telangiectasia
• Choroidal Neovascularization
• Neovascularization, Pathologic
• Telangiectasis
• Vascular Diseases

Locations

Country	Name	City	State
France	Fondation Ophtalmologique A. de Rotchschild	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Fondation Ophtalmologique Adolphe de Rothschild

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Variants in the ATM gene	Compared analysis of the variants frequency (heterozygote, homozygote variants versus the wild variant) in the ATM gene.	Day 1