The following are research projects, supported by the BTF, involving young people with thyroid disease in the UK. This is not a comprehensive list and there are other projects underway or being planned.

Study of Graves’ disease in young people

A clinical trial has indicated that a single dose of the drug, Rituximab, when given in addition to antithyroid drugs, may improve remission rates in young people diagnosed with Graves’ disease.

This is a summary of the results

Adjuvant* Rituximab – Exploratory Trial in Young People with Graves’ Disease

Tim D Cheetham et al

Young people with Graves’ disease treated with antithyroid drugs (ATD) are less likely to enter remission when compared to adults – in most young people the thyroid gland over-activity returns when the ATD are stopped. Remission rates in young people are - at best – around 25% after two years on ATD. Most young people will therefore need to take ATD for a lengthy period if they do not want to undergo early surgery or radio-iodine treatment.

However, the fact that people with Graves’ disease go into remission suggests it may be possible to ‘switch off’ the B cells (a type of white blood cell) that are responsible for producing the antibodies that stimulate the thyroid. In Graves’ disease, these antibodies are called thyroid receptor antibodies (TRAb for short).  

A study, led by Dr Tim Cheetham and other endocrinologists has been looking at whether treating young people with a drug called Rituximab (RTX), in addition to a short course of ATD, may increase the likelihood of Graves’ remission. RTX is a relatively new medicine that works on the immune system by depleting the number of B cells. It is already being used to treat a range of autoimmune disorders in children and it has been trialled, with some success, in adults with Graves’ eye disease.

What did the trial involve?

27 young people aged 12-20 years with newly diagnosed Graves’ disease participated in the trial. They were given a single 500 mg dose of RTX, together with a 12-month course of ATD (usually carbimazole) at seven UK endocrine centres. The ATD dose was adjusted according to the patients’ thyroid function.  ATD treatment was stopped after 12 months. Patient’s thyroid function, TRAb levels and B cell numbers were monitored carefully as well as possible side effects.

Participants were assessed after 24 months. Patients were deemed to have relapsed if their TSH was suppressed and FT3 was raised or if they had continued to take ATD after 12 months or if they had received thyroid surgery or RAI in the meantime.

What were the results?

All 27 patients completed the trial with no serious side effects linked to treatment. Patients were on a very low ATD dose when their treatment was stopped at 12 months and TRAb had fallen markedly as well. 13 of the 27 participants were in remission at 24 months with B cell count lower after RTX in those patients who achieved remission.  Hence the remission rate was close to 50% rather than the usual 25% or less. This trial indicates that a single dose of RTX, when used in conjunction with a short course of ATD, may improve remission rates of Graves’ disease in young people.

Next steps

The researchers believe these encouraging results warrant a formal, randomised control trial. We believe this is a very positive development in improving treatment outcomes for young people with Graves’ disease. If / when this trial goes ahead, we will share any opportunities to be involved with our members.

*Adjuvant therapy is given in addition to the primary or initial therapy to maximise its effectiveness. 

The full trial results were published in The Journal of Clinical Endocrinology and Metabolism in October 2021.

View the report  

Congenital central hypothyroidism (C-CH, also known as secondary hypothyroidism)

C-CH is a rare condition characterised by abnormally low levels of thyroid-stimulating hormone (TSH) released by the pituitary gland at the base of the brain.

The low TSH level leads to low thyroid hormone (T4) levels because the thyroid gland is not stimulated in the normal way. Secondary hypothyroidism can go undiagnosed in the UK because the condition is not picked up as part of the current blood spot screening programme. This is because the current programme only identifies babies with primary hypothyroidism where TSH levels are abnormally high because of an abnormal thyroid gland.

Some babies with C-CH have problems with the way the pituitary makes other hormones besides TSH and can be detected earlier as a result. However, some affected babies (perhaps around a half of babies with C-CH) just have a problem with TSH release. Without treatment, C-CH can affect a young person’s ability to grow, learn and develop normally.   

We are currently working with researchers who would like to explore how we might achieve earlier diagnosis of C-CH and the likely associated benefits to children, families and society as a whole.

If you or your child has been diagnosed with C-CH and you would like to share your experiences with the researchers who are doing this work we would love to hear from you. Please email [email protected] with the subject heading ‘Central CH’.

The national BSPED thyrotoxicosis study

This study, which was funded in part by the BTF, looked at how best to administer antithyroid drugs (usually carbimazole in the UK) to children and adolescents with thyrotoxicosis. The study finished in 2015 and over 80 patients were recruited from around 15 centres in England, Scotland and Wales. The results were analysed and published in an article in the European Thyroid Journal.

Initial response of young people with thyrotoxicosis to bock and replace or dose titration thionamide

Rethinking Strategies for Positive Newborn Screening Result (ReSPoND)

Each year about 800,000 babies in the UK have a blood test taken (called newborn bloodspot screening (NBS)) to screen for specific conditions, which if treated early will improve the child’s health and well-being. In 2015-16, over 10,000 babies were identified as being affected or healthy carriers of a gene for one of the conditions screened for, which include sickle cell disease, cystic fibrosis, metabolic conditions and congenital hypothyroidism. When a positive result occurs, a variety of ways are used to deliver the result but many parents complain about the approaches used.

The BTF has been on the Steering Committee of a research study being conducted by City, University of London to improve the way newborn screening results are communicated to parents when they have received a result which suggests their baby may have a thyroid condition.

The aim of the study is for parents and health professionals to work together to design interventions to facilitate effective communication of positive NBS results to parents by health professionals.

Data collection for the ReSPoND study finished on 31 December 2020 and the researchers would like to thank all the parents who contributed to this study. There have already been two published papers from this work which can be accessed below

The team are now writing up their final report but in the meantime you can find out more about their work in the study blog.

The British Paediatric Surveillance study of congenital hypothyroidism (CHT)

This study has been looking at the incidence of CHT in the UK (how common it is) and other important issues such as what proportion of cases are temporary as opposed to permanent. The study will also provide information about how paediatricians manage the condition in the UK. The study is supported by the Royal College of Paediatrics and Child Health (RCPCH) and received backing from the BTF.

Information has now been collected for over 600 newborn babies who were screened for CHT using the newborn blood spot (heel prick test) and then followed for up to three years. Of all the babies who had a positive (abnormal) screening test and needed more tests, 24% did not have CHT, 9% had temporary (transient) CHT, and 67% had permanent CHT and probably need treatment for life.

The study findings also show that the newborn blood spot screening programme is very good at identifying babies with CHT. With screening, just 1 in 100,000 babies are found only because they become unwell. Nowadays around 5 in every 10,000 newborn babies are diagnosed with CHT. This is twice as many as before screening began in 1981 although the reasons for the increase are not known. Information from this study is now helping to improve the screening programme. The researchers are also using the information to look at the different kinds of care that children with CHT receive in the UK.

Contact: [email protected]

For further information about this study please see the following publications:

Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds, The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 10, 1 October 2018, Pages 3720–3728

Understanding Patient Data Case Study: Improving newborn screening

Royal College of Paediatrics and Child Health  BPSU study - Congenital hypothyroidism 

Thyroid disorders in children