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The University of Southampton
Wessex Imprinting Group

Study of Adults and Adolescents with Russell-Silver Syndrome in the UK (STAARS UK)

What is Russell-Silver syndrome?

Russell-Silver syndrome (RSS), also known as Silver-Russell syndrome, is a growth disorder. Children are born with unexplained low birth weight and often have early, severe feeding problems. Growth is affected during childhood and results in significant short stature as an adult.

In some people with RSS a genetic change is found: 40-50% are found to have a problem on chromosome 11 and in another 5-10% on chromosome 7. In other patients, research teams around the world, including ours, are still looking.

Why are we carrying out this study?

The Child Growth Foundation indicated that research to increase information on long-term health issues and growth is a priority as there is little information in confirmed RSS. The main aim of our study is to gather a group of people with RSS, to collect information on long-term outcomes so that data are available for families, which we hope will help in their decision making about treatment. For example, it is well-established that poor growth in the womb and in early childhood increases the risk of heart disease and related disorders in adulthood but does this happen in RSS?

Growth hormone is the current treatment and involves daily injections with a cost of around £5000 per year for up to ten years. There are some results that show it improves final height, but this is mainly from studies where low birth weight is caused by many different disorders and is not specific for RSS. There is no information on positive or negative effects of growth hormone on heart disease risk factors or quality of life in RSS. So, parents of children with RSS face difficult decisions when deciding whether or not to accept growth hormone for their children’s poor growth. Growth hormone impacts on many metabolic pathways and there are potential risks but also benefits for long-term health. Importantly, the genes involved in RSS are from a subgroup of genes that are termed ‘imprinted’. These genes are known to have an impact on growth, metabolism and behaviour. Growth hormone may be even more important than we realise for RSS?

This study may help to resolve whether growth hormone is beneficial by comparing people who had it from those who did not.

In order to find significant results we have calculated that we need to recruit 100 people with RSS to the study. We know that this might be difficult and therefore we will include people around the whole country. A subgroup of participants will also be invited to an in-depth interview to explore the meaning of the condition and what it is like to live with RSS.

Who could be recruited to the study?

We would like to include people with a known genetic change that confirms Russell-Silver syndrome. We will be able to help arrange testing if needed. Contact us if you would like a test and we will discuss how you can be tested as part of the normal NHS service.

If you already know that you have a positive test for Russell Silver then read about the study on the information sheet by clicking on the link and send the interest form back to us.

What will happen to me/my child if taking part in this study?

You will be invited for a clinic visit at University Hospital Southampton or a centre near where you live. The appointment will include a medical history and clinical examination and should last about 3 hours. It will be an opportunity to talk all about RSS with someone who is doing a lot of research into it.

How will I know the results?

Each participant will have the option to receive an outcome sheet from the consultation and results such as height, weight and blood pressure. When we have found out more about RSS we will report the findings on this website.

Further information

If you would like more information on this study then please contact:

Dr Kemi Lokulo-Sodipe
Wessex Clinical Genetics Service
Mailpoint 105, Level G
Princess Anne Hospital
Coxford Road
Southampton
SO16 5YA

Tel: 023 8120 6551
Fax: 023 8120 4346
Email: STAARS@uhs.nhs.uk

Or:

Professor Karen Temple
Honorary Consultant in Clinical Genetics
University Hospital Southampton NHS Foundation Trust
And Faculty of Medicine, University of Southampton

Telephone number as above

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