Mutations in thyroid hormone receptor alpha 2

Mutations in thyroid hormone receptor alpha 2 - TRa2 mutations

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON39713

Enrollment

Registered

2013-02-05

Start date

2012-10-01

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

mutation in the binder of thyroid hormone thyroid hormone receptor mutation

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: All familiy members of patient with the TRa2 mutation will be tested.

Exclusion criteria

Exclusion criteria: na

Design outcomes

Primary

Measure	Time frame
The main parameters are (a) serum hormone and metabolite levels and (b) gene expression differences in skin fibroblasts and PBMCs from WT and mutant subjects.	—

Countries

Netherlands

Outcome results