Genetics and Epigenetics of Graves' Orbitopathy | NCT04488406

Studies
Genetics and Epigenetics of Graves' Orbitopathy

NCT04488406

Sponsor

University of Pisa

Status

Completed

Last Update Posted

Jul 28, 2020Actual

Enrollment

12Actual

Phase

Not provided

Conditions

Graves Ophthalmopathy

Interventions

No Intervention

Countries

Italy

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jul 2020

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 1, 2020Actual

Primary Completion Date

Mar 31, 2020Actual

Completion Date

Mar 31, 2020Actual

First Submitted Date

Jul 17, 2020

First Submission Date that Met QC Criteria

Jul 22, 2020

First Posted Date

Jul 28, 2020Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jul 22, 2020

Last Update Posted Date

Jul 28, 2020Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

12Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Graves' Orbitopathy		Graves' Orbitopathy patients who undergoing orbital decompressive surgery	Other: No Intervention
Control Patients		Patients undergoing eye surgery for unrelated reasons	Other: No Intervention

Interventions

Name	Type	Description	Arm Group Labels	Other Names
No Intervention	Other	Not applicable to these subjects. There is no study-related intervention	Control Patients Graves' Orbitopathy

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Gene expression	Gene expression in patients vs controls	Baseline

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Diagnosis of Graves' Orbitopathy
Informed consent

Exclusion Criteria:

-Lack of informed consent

Accepts Healthy Volunteers

Not provided

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

85 Years

Standard Ages

AdultOlder Adult

Study Population

Patients with Graves' orbitopathy undergoing decompressione surgery

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Ospedale Cisanello-Endocrinology I and II		Pisa		56124	Italy

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
33484567	Derived	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.

ID	Term
D015785	Eye Diseases, Hereditary
D005128	Eye Diseases
D006111	Graves Disease
D005094	Exophthalmos