TSH Receptor Activatory Mutation (TRAM) study
Research type
Research Study
Full title
Identification of patients with hyperthyroidism due to mutations in the TSH receptor (TSHR) gene
IRAS ID
153183
Contact name
Bijay Vaidya
Contact email
Sponsor organisation
RD&E NHS FT
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Hyperthyroidism (overactive thyroid) is a condition in which the thyroid gland produces too much of the hormone thyroxine. This can speed up the body's metabolism (chemical reactions) and lead to sudden weight loss, a rapid or irregular heartbeat, sweating, and nervousness or irritability. It is one of the most common endocrine diseases and can affect 1 in 50 people. There are several different kinds, but the most common is called Graves’ disease. This is caused by the body’s immune (defence) system attacking the thyroid hormone production process via producing antibodies (defenders against the attack) in the bloodstream. It is usually treated with anti-thyroid medications in the first instance. Hyperthyroidism can also be caused by changes in a gene called the TSHR gene. This is thought to be very rare and so far only around 200 patients have been identified worldwide. It is best treated with surgical removal of the thyroid or radioactive iodine therapy. This group of patients is not routinely identified in current clinical practice, partly because it is considered so rare, but also because they may not appear very different to patients with Graves’ disease, when they do not have any of the antibodies. This can lead to individuals being misdiagnosed and subsequently being given inappropriate treatment. We would like to look at this in more detail. As a first stage we want to take a blood sample from local patients who have been diagnosed with Graves’ disease but have no antibodies in their blood and see how many people actually have the change in the TSHR gene. We could then use this information to develop more detailed studies into whether screening for defects in the TSHR gene should become part of routine care.
REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
15/NE/0061
Date of REC Opinion
13 Feb 2015
REC opinion
Favourable Opinion