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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02857894
Recruitment Status : Terminated (Mutations found do not modify the ATM protein+ modifications of methodology would be necessary)
First Posted : August 5, 2016
Last Update Posted : October 29, 2018
Information provided by (Responsible Party):
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).

Condition or disease
Choroidal Neovascularization

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 : November 5, 2015
Actual Primary Completion Date : October 23, 2018
Actual Study Completion Date : October 23, 2018

Primary Outcome Measures :
  1. 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.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with polypoidal choriodal vasculopathy

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)

Information from the National Library of Medicine

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 identifier (NCT number): NCT02857894

Fondation Ophtalmologique A. de Rotchschild
Paris, France, 75019
Sponsors and Collaborators
Fondation Ophtalmologique Adolphe de Rothschild
Principal Investigator: Martine MAUGET FAYSSE Fondation Ophtalmologique A. de Rothschild

Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild Identifier: NCT02857894     History of Changes
Other Study ID Numbers: MMT_2015_4
First Posted: August 5, 2016    Key Record Dates
Last Update Posted: October 29, 2018
Last Verified: October 2018

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Fondation Ophtalmologique Adolphe de Rothschild:
Polypoidal choroidal vasculopathy

Additional relevant MeSH terms:
Neovascularization, Pathologic
Choroidal Neovascularization
Vascular Diseases
Ataxia Telangiectasia
Pathologic Processes
Choroid Diseases
Uveal Diseases
Eye Diseases
Cardiovascular Diseases
Spinocerebellar Ataxias
Cerebellar Ataxia
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocutaneous Syndromes
Neurologic Manifestations
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Immunologic Deficiency Syndromes
Immune System Diseases