Genetics and Epigenetics of Graves' Orbitopathy

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.

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Key information

Conditions

Graves Ophthalmopathy Autoimmune Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Endocrine System Diseases Exophthalmos Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Goiter Graves Disease Hyperthyroidism Immune System Diseases Orbital Diseases Thyroid Diseases

Age range

18 year–85 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Ospedale Cisanello-Endocrinology I and II

Pisa, 56124, Italy

About this study

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

Who can participate

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Diagnosis of Graves' Orbitopathy
Informed consent

Exclusion criteria

-Lack of informed consent

Treatment and study plan

No intervention

Other

Not applicable to these subjects. There is no study-related intervention

Primary outcomes

Gene expression

Time frame: Baseline

Gene expression in patients vs controls

Sponsors and collaborators

Lead sponsor

University of Pisa

Other

Registry information

Acronym: GeneGO

Important dates

Study start: 2020
Primary completion: 2020
Study completion: 2020
First posted: Jul 28, 2020
Registry last updated: Jul 28, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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