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.

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.

Study of Graves’ disease in young people

The clinical trial that is looking to see if the medicine Rituximab can improve outcomes in young people diagnosed with Graves’ disease (the RIG-D trial) finished recruiting participants in August 2018. We expect the results of this trail to be available towards the end of 2020.

Contact: [email protected]

The national BSPED thyrotoxicosis study

This study is looking 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 data is currently being put in the correct format so that analysis can begin. The medicine side-effect information is very important in this trial and we have been making sure that this is accurately categorised.

The analysis of the data will be conducted by a professor in medical statistics at Newcastle University. Many people will have heard about this trial over the years and we are sorry that analysing the data (and hence working out what the trial has taught us) is taking so long.

Contact: [email protected]

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