Genetics and Epigenetics of Graves' Orbitopathy

Completed

• Conditions: Graves Ophthalmopathy
• Interventions: Other: No Intervention

• Registration Number: NCT04488406
• Lead Sponsor: University of Pisa

Brief Summary

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.

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 Timeline

• Study Start: 2020-01-01
• Primary Completion: 2020-03-31
• Study Completion: 2020-03-31
• Status Verified: 2020-07
• Study First Submitted: 2020-07-17
• Study First Submitted QC: 2020-07-22
• Last Update Submitted: 2020-07-22
• Study First Posted: 2020-07-28
• Last Update Posted: 2020-07-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 12

Inclusion Criteria

• Diagnosis of Graves' Orbitopathy
• Informed consent

Exclusion Criteria

-Lack of informed consent

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Control Patients	No Intervention	Patients undergoing eye surgery for unrelated reasons
Graves' Orbitopathy	No Intervention	Graves' Orbitopathy patients who undergoing orbital decompressive surgery

Primary Outcome Measures

Name	Time	Method
Gene expression	Baseline	Gene expression in patients vs controls

Trial Locations

Locations (1)

Ospedale Cisanello-Endocrinology I and II; 🇮🇹 Pisa, Italy