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

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ClinicalTrials.gov Identifier: NCT02857894
Recruitment Status : Recruiting
First Posted : August 5, 2016
Last Update Posted : March 1, 2018
Sponsor:
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
Estimated Enrollment : 40 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
Estimated Primary Completion Date : May 2018
Estimated Study Completion Date : May 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
Criteria

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 ClinicalTrials.gov identifier (NCT number): NCT02857894


Contacts
Contact: Laurence Salomon, MD +33148036431 lsalomon@fo-rothschild.fr

Locations
France
Fondation Ophtalmologique A. de Rotchschild Recruiting
Paris, France, 75019
Contact: Laurence Salomon, MD    +33148036431    lsalomon@fo-rothschild.fr   
Principal Investigator: Martine Mauget-Faÿsse, MD         
Sponsors and Collaborators
Fondation Ophtalmologique Adolphe de Rothschild

Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild
ClinicalTrials.gov Identifier: NCT02857894     History of Changes
Other Study ID Numbers: MMT_2015_4
First Posted: August 5, 2016    Key Record Dates
Last Update Posted: March 1, 2018
Last Verified: February 2018

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

Additional relevant MeSH terms:
Ataxia Telangiectasia
Neovascularization, Pathologic
Choroidal Neovascularization
Telangiectasis
Vascular Diseases
Metaplasia
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
Ataxia
Dyskinesias
Neurologic Manifestations
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Immunologic Deficiency Syndromes
Immune System Diseases