Four collaborative research trials, which all included GOSH patients treated at the National Institute for Health Research (NIHR) GOSH Clinical Research Facility (CRF), have been recently published in the prestigious New England Journal of Medicine.
Drug derived from cannabis cuts seizures for children with severe epilepsy
In a clinical trial led at GOSH by Professor Helen Cross, a drug derived from cannabis (cannabidiol) cut the number of ‘drop attacks’ – a type of epileptic seizure causing children to drop suddenly to the floor – in children with Lennox-Gastaut syndrome. Children who live with this condition endure debilitating seizures that can lead to serious injuries, so this drug could make a significant difference to their quality of life. At the end of the 14-week trial, the average number of drop attacks reduced by around 40%, compared to only 17% of patients given a dummy drug. This follows findings last year from another multicentre trial led by Professor Cross and carried out at the GOSH CRF, which found that cannabidiol also reduced epileptic seizures in children with Dravet syndrome.
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Precision medicine for children with a rare form of rickets
X-linked hypophosphatemia (XLH) is a rare, inherited form of rickets that affects approximately 300 children in the UK and causes joint pains, weaker bones, bowed legs and poor growth. Dr William van’t Hoff recruited three GOSH patients into an international multicentre study. After a year of treatment with burosumab, a drug that specifically targets the cause of XLH, growth rates significantly improved, patients reported less pain and X-rays of the joints showed a 50% reduction in severity of rickets. Ashley, aged 14, who took part in the trial along with his sister Lottie, says: “I joined the trial because it could help other people with my condition and it would help my family too – lots of us have XLH.”
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First drug to reduce flares in children with recurrent fever conditions
In this trial, injections of the drug canakinumab every 4–8 weeks significantly reduced the number of fever episodes in children with three different types of recurrent fever conditions. Patients experience frequent periodic episodes of fever called ‘flares’ that can last several days or weeks, as well as joint and skin problems. After 16 weeks of treatment, significantly more children who received the drug had no disease flares in that time. The trial, which was led at GOSH by Professor Paul Brogan, is particularly significant, as previously there were no therapies available for two of the three conditions, and the only existing treatment for the third condition – familial Mediterranean fever – requires impractical daily injections.
A novel treatment for the serious neurodegenerative condition CLN2
In this international clinical trial, a drug called cerliponase alfa was infused directly into the brains of 23 patients, four of whom were treated at the GOSH CRF. After a year, children given the drug showed less degeneration of brain tissue and an 80% less of a decline in their motor and language skills. CLN2, which is a rare form of Batten disease, causes seizures, difficulty with coordination and dementia. Before this research took place, there were no specific therapies for CLN2, so this research is an important step forward for patients and their families. This was a highly intensive study led by Professor Paul Gissen at GOSH and involved the first use of a novel device to administer the drug into the brains of children. It also required expert research nurses.
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