GeneGO: Genetics and Epigenetics of Graves' Orbitopathy

• Sponsor: University of Pisa (Other)
• Overall Status: Completed
• CT.gov ID: NCT04488406
• Collaborator: (none)
• Enrollment: 12
• Location: 1
• Actual Duration (Months): 3
• Patients Per Site Per Month: 4.1

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Graves Ophthalmopathy	Other: No Intervention

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 Design

• Study Type: Observational
• Actual Enrollment: 12 participants
• Observational Model: Case-Control
• Time Perspective: Prospective
• Official Title: Genetics and Epigenetics of Graves' Orbitopathy
• Actual Study Start Date: Jan 1, 2020
• Actual Primary Completion Date: Mar 31, 2020
• Actual Study Completion Date: Mar 31, 2020

Arms and Interventions

Arm	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

Outcome Measures

Primary Outcome Measures

1. Gene expression [Baseline]

   Gene expression in patients vs controls

Eligibility Criteria

Criteria

• Ages Eligible for Study: 18 Years to 85 Years
• Sexes Eligible for Study: All

Inclusion Criteria:

• Diagnosis of Graves' Orbitopathy

• Informed consent

Exclusion Criteria:

-Lack of informed consent

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Ospedale Cisanello-Endocrinology I and II	Pisa		Italy	56124

Sponsors and Collaborators

• University of Pisa

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Marinò Michele, Associate Professor, University of Pisa
• ClinicalTrials.gov Identifier: NCT04488406
• Other Study ID Numbers: GeneGO
• First Posted: Jul 28, 2020
• Last Update Posted: Jul 28, 2020
• Last Verified: Jul 1, 2020

• Individual Participant Data (IPD) Sharing Statement: No
• Plan to Share IPD: No
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Eye Diseases; Graves Ophthalmopathy

Study Results

No Results Posted as of Jul 28, 2020