Genetics and Epigenetics of Graves' Orbitopathy (GeneGO)

July 22, 2020 updated by: Marinò Michele, University of Pisa

Graves' orbitopathy (GO) is an autoimmune disease persisting when immunosuppression is achieved. Orbital fibroblasts from GO patients display peculiar phenotypes even if not exposed to autoimmunity, possibly reflecting genetic or epigenetic mechanisms, to be investigated here.

Primary cultures of orbital fibroblasts from GO and control patients will be established. Cell proliferation, release of hyaluronic acid (HA) and HA synthases (HAS) will be measured. Next Generation Sequencing and gene expression analysis of the whole genome will be performed, as well as global DNA methylation assay.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

The investigators will establish primary cultures of orbital fibroblasts from orbital adipose tissue samples taken from six GO patients who underwent orbital decompressive surgery. Normal orbital tissue samples will be collected from six patients undergoing eye surgery for unrelated reasons.

Cell proliferation and HA will be measured using commercial assays DNA and RNA will be extracted. HAS-1, HAS-2 and HAS-3 will be measured were assessed by Real Time-PCR Next Generation Sequencing, Gene expression analysis and DNA methylation assays will be performed

Study Type

Observational

Enrollment (Actual)

12

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
      • Pisa, Italy, 56124
        • Ospedale Cisanello-Endocrinology I and II

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

18 years to 85 years (Adult, Older Adult)

Accepts Healthy Volunteers

N/A

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with Graves' orbitopathy undergoing decompressione surgery

Description

Inclusion Criteria:

  • Diagnosis of Graves' Orbitopathy
  • Informed consent

Exclusion Criteria:

-Lack of informed consent

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

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Graves' Orbitopathy
Graves' Orbitopathy patients who undergoing orbital decompressive surgery
Other: No Intervention
Not applicable to these subjects. There is no study-related intervention
Control Patients
Patients undergoing eye surgery for unrelated reasons
Other: No Intervention
Not applicable to these subjects. There is no study-related intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Gene expression
Time Frame: Baseline
Gene expression in patients vs controls
Baseline

Collaborators and Investigators

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

Sponsor

University of Pisa

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 (Actual)

January 1, 2020

Primary Completion (Actual)

March 31, 2020

Study Completion (Actual)

March 31, 2020

Study Registration Dates

First Submitted

July 17, 2020

First Submitted That Met QC Criteria

July 22, 2020

First Posted (Actual)

July 28, 2020

Study Record Updates

Last Update Posted (Actual)

July 28, 2020

Last Update Submitted That Met QC Criteria

July 22, 2020

Last Verified

July 1, 2020

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GeneGO

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

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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