Genetics and Epigenetics of Graves' Orbitopathy

NCT ID: NCT04488406

Last Updated: 2020-07-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

12 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-01-01

Study Completion Date

2020-03-31

Brief Summary

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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

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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

Conditions

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Graves Ophthalmopathy

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Graves' Orbitopathy

Graves' Orbitopathy patients who undergoing orbital decompressive surgery

No Intervention

Intervention Type OTHER

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

Control Patients

Patients undergoing eye surgery for unrelated reasons

No Intervention

Intervention Type OTHER

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

Interventions

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No Intervention

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

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Diagnosis of Graves' Orbitopathy
* Informed consent

Exclusion Criteria

-Lack of informed consent
Minimum Eligible Age

18 Years

Maximum Eligible Age

85 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University of Pisa

OTHER

Sponsor Role lead

Responsible Party

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MarinĂ² Michele

Associate Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Ospedale Cisanello-Endocrinology I and II

Pisa, , Italy

Site Status

Countries

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Italy

References

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Rotondo Dottore G, Bucci I, Lanzolla G, Dallan I, Sframeli A, Torregrossa L, Casini G, Basolo F, Figus M, Nardi M, Marcocci C, Marino M. Genetic Profiling of Orbital Fibroblasts from Patients with Graves' Orbitopathy. J Clin Endocrinol Metab. 2021 Apr 23;106(5):e2176-e2190. doi: 10.1210/clinem/dgab035.

Reference Type DERIVED
PMID: 33484567 (View on PubMed)

Other Identifiers

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GeneGO

Identifier Type: -

Identifier Source: org_study_id

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