Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT05735730 |
| Other study ID # |
4C-2022-11 |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
N/A
|
| First received |
|
| Last updated |
|
| Start date |
June 26, 2023 |
| Est. completion date |
May 2025 |
Study information
| Verified date |
February 2024 |
| Source |
Association for Innovation and Biomedical Research on Light and Image |
| Contact |
Cândida Dias, PhD |
| Phone |
+351 239 480 112 |
| Email |
amd_lifegene[@]aibili.pt |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Interventional
|
Clinical Trial Summary
The goal of this Cross-sectional, interventional study is to learn about whether different
risk factors, as Mediterranean diet, lifestyle and concomitant medication can modulate the
risk imprinted by genetics in Age-related macular degeneration (AMD). The main question it
aims to answer is: How the genetic risk interacts with environmental and lifestyle factors,
especially Mediterranean diet and chronic medication, in order to assess how this interplay
protects or presents higher risk for the establishment or the progression of AMD.
Participants:
Vital Signs will be measured; Medical History, Demographics, Nutritional/lifestyle habits and
Family History of AMD will be recorded; Ophthalmological Examination will be performed
Genetic analysis will be performed.
Description:
Age-related macular degeneration (AMD) is the major cause of vision loss in people over 55
years in western countries. By 2040, AMD prevalence is estimated to reach 288 million.
Age-related macular degeneration is a multifactorial disease, implying genetic and
demographic/environmental risk factors. Several worldwide epidemiologic studies characterized
AMD from an epidemiologic standpoint, identifying risk factors for the disease, such as age
and smoking habits, the two most widely accepted, besides genetics. Most of these studies
have evaluated the different risk factors from a single-way point of view, not assessing
gene-lifestyle/nutrition/medication interplay. A few studies stepped forward on this matter
by studying the difference between the genetic risk conferred by specific and associated
single nucleotide polymorphisms (SNPs), alone or in combination with other risk factors. Our
group conducted the Epidemiological Study of the Prevalence of AMD in Portugal (NCT01298674)
and assessed the prevalence of AMD in two cohorts (from an inland population - Lousã, and a
costal one - Mira), and subsequently assessed the AMD incidence in the coastal cohort (Mira),
in the Five-year Incidence of Age-related Macular Degeneration in the Central Region of
Portugal study - AMDIncidencePT (NCT02748824). AMD prevalence in Mira was inferior to that in
Lousã, emphasizing that this population may have specific environmental, lifestyle or genetic
characteristics. Differences in major allele frequencies were already identified in the
coastal population in the AMD incidence study (NCT02748824) that might explain the previous
findings in both prevalence and incidence in the Mira population, and it was found that rare
variants conferred high risk of disease in this coastal cohort. Increasing the sample and
analysis of another geographic population by focusing now on the incidence and genetic data
from the inland population of Lousã will further contribute to the disease genetic knowledge
in Europe, and by extension, will deepen the knowledge on genetic interplay with environment
and lifestyle, under the concept of personalized medicine. Therefore, data obtained in this
study regarding the inland population cohort (Lousã) will also be analyzed together and
compared with the data relative to the coastal population cohort (Mira) from the AMD
incidence study (NCT02748824) and the Life Style and Food Habits Questionnaire in the
Portuguese Population Aged 55 or More (NCT01715870).
The aim of the AMD_LifeGene study is to further explore the interplay between AMD risk
factors and AMD genetic risk and their impact on AMD development. This study will allow the
investigation of whether different risk factors, as the Mediterranean diet, lifestyle and
concomitant medication can modulate the risk imprinted by genetics.
AMD_LifeGene is a cross-sectional, interventional study with no investigative treatment or
medical device and with a single visit. The study intervention consists of a blood draw (for
genetic and molecular analysis), that is not considered part of AMD routine care, for the
participants that give consent for this procedure. Therefore, this is considered an
interventional study in accordance with the Portuguese Clinical Research National Law 21/2014
of 16 of April amended by Law 73/2015 of 27 of July and Law 49/2018 of 14 August. The
residents of the Lousã region who have already participated in the first study to determine
the prevalence of AMD (NCT01298674), will be contacted to participate in the AMD_LifeGene
study. Data collection will be carried out by AIBILI-CEC at the Lousã Healthcare Unit.
This study will have as primary endpoints: assessment of risk factors including demographics,
medical history, ophthalmic history, family history of AMD, systemic co-morbidities and
medication, nutritional/diet and lifestyle habits, together with a complete phenotypic
characterization of AMD on multimodal imaging evaluation, and association with the genetic
background. Secondary endpoints will be epidemiological characterization of this larger
population that includes both the inland and coastal cohorts in terms of incidence and
disease progression.
After signing the Informed Consent Form, participants will be submitted to a single visit
approximately ten years after the participant's participation in the Epidemiological Study
(NCT01298674). Data on participants' demographics, vital signs, medical history (general and
ophthalmic), analytical systemic parameters, family history of AMD, current medication, and
nutritional/diet and lifestyle habits will be collected. For those who give consent, a blood
sample will be collected for molecular and genetic analysis.
Ophthalmologic examination will be performed on both eyes including visual acuity, tonometry,
and multimodal imaging with Colour Fundus Photography (CFP), Spectral-Domain Optical
Coherence Tomography (SD-OCT), OCT Angiography (OCTA), Fundus Autofluorescence (FAF),
Infrared imaging (IR) and Ultra-Widefield Fundus Imaging (UWF-FI) / FAF.
Ophthalmological examinations performed will be analyzed at AIBILI Coimbra Ophthalmology
Reading Centre (AIBILI-CORC).
All imaging data collected will be exported to AIBILI's Reading Centre (CORC) for centralized
reading and grading, performed according to pre-specified grading protocols by certified
ophthalmologist graders. The grading will be performed in two steps:
1. General grading: disease/no disease staging.
2. AMD phenotypic and stage grading: this assessment will be applicable to those eyes that
were graded as AMD in the previous step.
Grading will be carried out by classifying the signs of AMD into 5 exclusive stages (stage
0-4) using the Rotterdam staging system, and additionally, with the Beckman classification
system. The grading will be performed for both eyes. However, AMD staging, for an individual
participant, will be based on the eye that presents a more severe status, if both eyes are
gradable. If only one eye is gradable, the grading will be based only on it.
Genetic analysis will be performed by the International Age-Related Macular Degeneration
Genomics Consortium (IAMDGC).
