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Clinical Trials/ChiCTR2100053642
ChiCTR2100053642RecruitingUnknown

Mapping the Thyroid Associated Orbitopathy (TAO) Genes by Whole Genome Sequencing (WGS)

Research Grants Council - General Research Fund 2021/222 sites in 1 country3,000 target enrollmentStarted: January 1, 2022Last updated:
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Trial Snapshot

Phase
Unknown
Status
Recruiting
Sponsor
Enrollment
3,000
Locations
2
Primary Endpoint
Clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong
Study OverviewStudy DesignEligibility CriteriaArms & InterventionsOutcomesInvestigatorsSitesRecords & IdentifiersSimilar Trials

Study Overview

Brief Summary

  1. To document and update the clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong.
  2. To identify gene loci and variants that are associated with TAO by Whole Genome Sequencing (WGS) and family linkage analysis.
  3. To study the expressions and functions of the newly found TAO genes.
  4. To associate the phenotypic features of TAO patients with the newly identified TAO gene variants.

Study Design

Study Type
Observational

Eligibility Criteria

Sex
Male

Inclusion Criteria

  • •All TAO patients were diagnosed by the endocrinologists and orbital surgeons experienced in thyroid diseases. Diagnosis of GD is based on history, complete physical/ophthalmic examination and laboratory tests (sensitive TSH, free T4, total T3 and anti-thyroglobulin antibody), diffuse goiter, and the presence of at least one of the following: positive TRAb tests, diffusely increased 131I uptake in the thyroid gland or exophthalmos. Diagnosis of TAO is made according to the EUGOGO criteria. TAO is defined as class 3 or higher in the American Thyroid Association mnemonic NOSPECS scheme:
  • •The NOSPECS classification system:
  • •Class 0: No signs or symptoms
  • •Class 1: Only signs (limited to upper lid retraction and stare, with or without lid lag)
  • •Class 2: Soft tissue involvement (edema and redness of conjunctivae and lids)
  • •Class 3: Proptosis
  • •Class 4: Extraocular muscle involvement (usually with diplopia)
  • •Class 5: Corneal involvement (primarily due to lagophthalmos)
  • •Class 6: Sight loss (due to optic nerve involvement)
  • •All control subjects are healthy without personal or family history of Graves disease, TAO, other eye diseases, syndromic diseases, or autoimmune disorders. They are matched for sex with cases and are over 60 years to reduce the number of controls who might develop thyroid eye diseases later in life as thyroid eye diseases are more likely to occur in young adults. Sensitive TSH (sTSH) (<0.35 mU/ml) and TPOAb (>5.61 U/ml) in control subjects are measured using chemiluminescence immunoassay (CLIA).

Exclusion Criteria

  • •Healthy controls: aged < 60 years

Arms & Interventions

TAO patients

Blood taking and data collection

TAO family members

Blood taking and data collection

Healthy controls

Blood taking

Outcomes

Primary Outcomes

Clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong

Gene loci and variants that are associated with TAO by Whole Genome Sequencing (WGS) and family linkage analysis

Secondary Outcomes

  • Expressions and functions of the newly found TAO genes
  • Correlation between clinical features of TAO patients and the newly identified TAO gene variants

Investigators

Sponsor
Research Grants Council - General Research Fund 2021/22

Study Sites (2)

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