Genetics and Epigenetics of Graves' Orbitopathy

Graves Ophthalmopathy Clinical Trial

— GeneGO  

Official title:

Genetics and Epigenetics of Graves' Orbitopathy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04488406
• Other study ID #: GeneGO
• Status: Completed
• Start date: January 1, 2020
• Est. completion date: March 31, 2020

Study information

• Verified date: July 2020
• Source: University of Pisa
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 12
• Est. completion date: March 31, 2020
• Est. primary completion date: March 31, 2020
• Gender: All
• Age group: 18 Years to 85 Years

Eligibility

Inclusion Criteria:

• Diagnosis of Graves' Orbitopathy

• Informed consent

Exclusion Criteria:

-Lack of informed consent

Related Conditions & MeSH terms

• Eye Diseases
• Graves Ophthalmopathy

Intervention

Other:
• No Intervention
Not applicable to these subjects. There is no study-related intervention

Locations

Country	Name	City	State
Italy	Ospedale Cisanello-Endocrinology I and II	Pisa

Sponsors (1)

Lead Sponsor	Collaborator
University of Pisa

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Gene expression	Gene expression in patients vs controls	Baseline