Pioneering Research Into Rare Childhood Condition Gets Underway At Sheffield Children's Hospital, UK

Main Category: Pediatrics / Children's Health
Article Date: 24 Dec 2008 - 2:00 PDT

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Groundbreaking research that could improve the lives of children suffering from a rare hereditary condition is underway at Sheffield Children's Hospital.

The pioneering study will look at the treatment options available for Juvenile Huntington's Disease (JHD) - an inherited neurodegenerative condition that causes abnormal movements and emotional and cognitive problems JHD refers to anyone who develops signs or symptoms of Huntington's Disease before they are 20 years old. The condition affects only 60 to 70 families across England and Wales, and only 10 per cent of people develop symptoms this young. Funded by Sheffield Children's Hospital Charity, the research will be conducted by Dr Oliver Quarrell, a consultant in clinical genetics and his team.

The study will survey up to 35 parents and guardians of children with JHD about the effectiveness and associated side effects of pharmacological treatments, before cross-referencing the survey findings with GP information.

Dr Quarrell said: "There are currently no guides to manage the use of pharmacological treatments for JHD, but it is hoped that this research will change this.

"By establishing and documenting which treatments are most effective and directing further research and funding into these promising areas, we can hopefully start to improve the treatment of children with JHD.

"The condition can be very distressing for the families of sufferers, because of the child's challenging behaviour. JHD causes irritability, frustration, aggression and inappropriate social or sexual behaviour and it's essential that society becomes aware of these issues.

"This research marks the beginning of an effective, international treatment plan to be set up across the UK and Europe, of which Sheffield Children's Hospital is playing a very important part.

"There is currently no cure for Huntington's disease and as it worsens with age, any developments that can help control the disease are essential. The aim of this research is to do just that, to improve the lives of children living with JHD by discovering the most effective treatments available."

The research has been part-funded by Sheffield Children's Hospital Charity, which is aiming to raise £250,000 for research into conditions such as JHD, brittle bones, cystic fibrosis, asthma, diabetes and for newborn screening.

Cheryl Ridge, fundraiser at Sheffield Children's Hospital Charity said: "The research being carried out by Dr Quarrell and his team, will lay the foundations for building a brighter future for children who are living with JHD.

"By surveying the parents of patients who have to battle with the disease and its side-effects everyday, the research team can take steps towards finding what treatments really work. This way, we can be sure that the essential funding and research required to advance and develop treatments is focused on the right areas."

Sheffield Children's NHS Foundation Trust

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