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Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population (APOGEE)

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ClinicalTrials.gov Identifier: NCT04658381
Recruitment Status : Recruiting
First Posted : December 8, 2020
Last Update Posted : March 3, 2022
Sponsor:
Information provided by (Responsible Party):
Fondation Ophtalmologique Adolphe de Rothschild

Brief Summary:

Albinism is a genetic condition, resulting from mutations in at least 19 known genes responsible for the production of melanin in the skin, hair and eyes.

Ophthalmological manifestations are a constant feature of this disease. Albinism is believed to be responsible for 5% of visual impairments worldwide and all albino patients have some degree of fovea plana. In the milder forms, it is a slightly less marked foveolar depression with conservation of the normal diameter of the cones and, therefore, good visual function.

In addition to its known association with various ocular pathologies such as albinism, aniridia, nanophthalmia and retinopathy of prematurity, fovea plana was found in 3% of a population of normal children (without known ocular or systemic pathology) in a study conducted in 2014 to determine a pediatric normative basis for macular volume measured by optical coherence imaging (Stratus OCT).

More recently, a study carried out at the Hospital Foundation Adolphe de Rothschild showed that at least 35% of parents of albino children, who are totally asymptomatic, present with fovea plana in OCT. This frequency is higher than the 3% prevalence of fovea plana in asymptomatic subjects without a family history of albinism, suggesting a modulation of heterozygosity for a known gene for albinism.

The aim of this study is to verify, in patients with fortuitously discovered fovea plana (preoperative OCT for cataract surgery), with conservation of visual function and without known or manifest albinism, whether they are carriers of mutation in one of the genes referenced for albinism. This will also allow us to characterize these foveolar profiles in OCT according to the classification of Thomas et al., as well as in terms of retinal capillary density in OCT-Angiography, in order to know whether it is the same type of fovea plana or if the phenotype differs depending on the genetic damage.


Condition or disease Intervention/treatment Phase
Fovea Plana Albinism Genetic: Genetic analysis Procedure: Ophthalmologic exam Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 20 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Screening
Official Title: Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population
Actual Study Start Date : December 17, 2020
Estimated Primary Completion Date : June 2022
Estimated Study Completion Date : February 2023


Arm Intervention/treatment
Experimental: Genetic analysis Genetic: Genetic analysis
Patient exome sequencing will be performed by Illumina technology on the NextSeq 550 sequencer. Briefly, the exons of the genes are selected by capture and are amplified by PCR simultaneously, in a single reaction, and then sequenced by Illumina technology. The analysis will only concern genes involved in albinism and in genetic pathologies associated with fovea plana.

Procedure: Ophthalmologic exam
Standard ophthalmologic assessment (measurement of visual acuity, measurement of intraocular pressure, slit lamp examination), OCT-B scan, OCT-Angiography, Adaptive optics




Primary Outcome Measures :
  1. Describe the results of genetic analysis for the various variants of known genes involved in albinism and in genetic pathologies associated with fovea plana [ Time Frame: 2 years ]
    Genetic sampling carried out for the study. Patient exome sequencing. The analysis will only concern genes involved in albinism and in genetic pathologies associated with fovea plana



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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • Patient over 18 years old;
  • Diagnosis of fovea plana in one or both eyes, confirmed by two ophthalmologists blinded to each other from OCT-B imaging;

Exclusion Criteria:

  • Known Albinism
  • Known family history of albinism
  • History of eye surgery other than cataract
  • Alteration of macular visual function (loss of visual acuity independent of a disorder of the environments, central scotoma, metamorphopsies, etc.)
  • Presence of another anomaly in OCT in addition to the fovea plana (epiretinal membrane, damage to the external retina, etc.)
  • Syndromic fovea plana
  • Pregnant or breastfeeding woman

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): NCT04658381


Contacts
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Contact: Amélie YAVCHITZ, MD (0)1 48 03 64 33 ext +33 ayavchitz@for.paris
Contact: Raphaël LEJOYEUX, MD rlejoyeux@for.paris

Locations
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France
Hôpital Fondation A. de Rothschuld Recruiting
Paris, France, 75019
Contact: Raphaël LEJOYEUX         
Sponsors and Collaborators
Fondation Ophtalmologique Adolphe de Rothschild
Investigators
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Principal Investigator: Raphaël LEJOYEUX, MD Hôpital Fondation A. de Rothschild
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Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild
ClinicalTrials.gov Identifier: NCT04658381    
Other Study ID Numbers: RLX_2020_27
First Posted: December 8, 2020    Key Record Dates
Last Update Posted: March 3, 2022
Last Verified: March 2022

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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:
Carriers
General population
Additional relevant MeSH terms:
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Albinism
Eye Diseases, Hereditary
Eye Diseases
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Skin Diseases, Genetic
Hypopigmentation
Pigmentation Disorders
Skin Diseases
Metabolic Diseases