Genetics and Epidemiology of Aging Associated Conditions in the Sardinian Population

April 4, 2018 updated by: National Institute on Aging (NIA)

Genetics and Epidemiology of Aging Associated Conditions in the Sardinian Population (SARDINIA)

Background:

- The island of Sardinia, an Italian region, has a population that is highly interrelated. Researchers have developed the SardiNIA longitudinal study to examine the possible genetic factors that predispose individuals to diseases and to various inherited conditions. In the study, participants will be drawn from four towns in the Ogliastra region (Lanusei, Ilbono, Elini, and Arzana), and their DNA will be analyzed and compared with a long-term assessment of various health-related events. The SardiNIA study is designed to improve understanding of the genetic factors involved in age-associated diseases and disorders, and provide possible points of intervention that may help prevent diseases.

Objectives:

- To conduct a long-term study of genetics and epidemiology in a small and highly interrelated population.

Eligibility:

- Individuals at least 18 years of age (at least 14 years of age for Phase 1 of the study) who live in the province of Ogliastra in eastern Sardinia.

Design:

  • This 10-year study will involve three phases: collecting initial blood samples and medical history (years 1 to 4), and two sets of follow-up visits to collect additional data (3 years apart).
  • Participants will provide detailed medical history and information for long-term study, primarily involving the following aspects:
  • Demographic/family and clinical variables (e.g., medications, fertility, hospitalizations and surgical procedures, age of relatives who are still alive, age and cause of death in deceased relatives) (Phase 1)
  • Complete physical examination, including measures of height and weight, blood pressure, and basic heart function (Phase 1)
  • Blood and urine samples (Phase 1)
  • Heart and lung function tests (Phase 1)
  • Assessment of general personality traits and possible history of depression (Phase 1)
  • Dietary assessment through a food frequency questionnaire (Phase 1)
  • Cognitive tests of attention, memory, and concentration (Phases 1 and 2)
  • Frailty-related tests (e.g., hand grip strength, walking speed, bone strength) (Phases 1 and 2)
  • Eye examination to test for evidence of disease or macular degeneration (Phases 1 and 2)
  • Kidney and thyroid ultrasound (Phases 1, 2, and 3)

Study Overview

Status

Completed

Conditions

Detailed Description

The 1,500,000 people of the island of Sardinia arose from a much smaller number, starting thousands of years ago, with very little immigration from outside during that entire period. SardiNIA is a longitudinal study designed under the assumption that in highly interrelated population, such as the Sardinians, discovering the genetic factors that predispose individuals to disease and to other physiological characteristics is easier and more cost-effective. Thus far, group of 6,148 participants from a cluster of 4 towns in the Ogliastra region (Lanusei, Ilbono, Elini, and Arzana) has been assessed for about 100 quantitative traits, including a range of traits related to heart disease, features of personality, frailty, cognition and several blood tests (see Table 1). The DNA from all participants has been analyzed (genotyped) to look for variants of genes that are involved in determining the traits. Up to now, at least one gene has been discovered for each trait, including genes specific for levels of uric acid, fetal hemoglobin, cholesterol, etc. The analyses of genes are continuing, and are being extended to additional traits In addition, to improve the longitudinal perspective of the study, participants will be followed to detect the development on new health-related events or outcomes . This is done in 3 ways: 1) looking at genetic factors determining rates of change of levels of traits like blood pressure with age, based on repeated measures in currently ongoing second visits and planned third visits; 2) seeing which participants do or do not contract particular diseases, to test whether the genes discovered that affect risk factors can help to predict related health problems; and 3) comparing the DNA of disease-free participants in the study to DNA from Sardinian patients affected by particular diseases, to see if the genes already found or additional ones uncovered by the comparisons are involved in those diseases By looking at the development of outcomes, the SardiNIA project (called ProgeNIA for the population) further improves our understanding of the genetic factors involved in age-associated diseases and disorders. Those genes may then provide possible points of intervention that may yield routes to prevention of the diseases.

Study Type

Observational

Enrollment (Actual)

6926

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Italy
      • Lanusei, Italy
        • Italian National Research Council Institute of Neurogenetics and Neuropharmacolo

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

14 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • INCLUSION CRITERIA:

The targeted region for the studies, Ogliastra, is an isolated population of 300,000 in an area enclosed by two mountain ranges and the sea. We will recruit from the 8,500 residents in the towns of Lanusei (the capital of the region), Arzana, Elini and Ilbono, independent of their health status.

EXCLUSION CRITERIA:

At baseline, individuals less than 14 years of age will be excluded from study enrollment. Over the following visits, only individuals 18 and over will be evaluated.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Time Perspectives: Prospective

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Institute on Aging (NIA)

Investigators

  • Principal Investigator: David A Schlessinger, Ph.D., National Institute on Aging (NIA)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

November 19, 2003

Study Completion

January 2, 2015

Study Registration Dates

First Submitted

September 13, 2005

First Submitted That Met QC Criteria

September 13, 2005

First Posted (Estimate)

September 16, 2005

Study Record Updates

Last Update Posted (Actual)

April 5, 2018

Last Update Submitted That Met QC Criteria

April 4, 2018

Last Verified

January 2, 2015

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 999904317
  • 04-AG-N317

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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