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World-leading children’s hospitals partner to find new treatments for paediatric diseases

25 February 2021

Ahead of Rare Disease Day (28 February), leading children’s research institutions on three continents are joining forces to decipher paediatric illnesses, including rare diseases, and find better treatments.

World-leading children’s hospitals partner to find new treatments for paediatric diseases

The four paediatric hospitals — UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital (London); Boston Children’s Hospital; the Murdoch Children’s Research Institute with The Royal Children’s Hospital (Melbourne); and The Hospital for Sick Children (SickKids) in Toronto — are working together to evaluate genomic data, clinical data from patients, and scientific and medical expertise to accelerate discovery and therapeutic development.

The International Precision Child Health Partnership (IPCHiP), is the first major global collaboration around genomics and child health. The founding partners anticipate that additional institutions will join the collaboration in the future.

Of the more than 7,000 rare diseases that affect millions of individuals globally, only a few hundred have approved treatments. Many of these diseases mean children suffer their whole lives, or may die early from complications, sometimes just a day after birth.

IPCHiP’s goal is to enable the world’s top experts in paediatrics and genomics to work together to improve diagnosis, implement personalised treatment decisions, and develop new therapeutic targets and treatments that will benefit children around the world.

Professor Rosalind Smyth, Director of the UCL Great Ormond Street Institute of Child Health, said: “Our partnership will enable us to combine the collective power of our research effort to answer questions about rare diseases in children, which we are not able to answer by working only within our own centres. This will mean that we can move much more swiftly to effective treatments where none currently exist."

IPCHiP’s first project will involve epilepsy in infants, bringing together efforts already underway at the four hospitals.

Investigators at each site will enrol babies under age one with epilepsy, sequence their genomes, change treatment based on the findings when appropriate, and follow the children’s development long term. No patient will be identifiable from the data used, and no patient data will be shared across international borders.

The study will compare infants who receive a genetic diagnosis with those who don’t. Through this project, IPCHiP will establish systems to evaluate data responsibly across the different institutions.

Dr Amy McTague (UCL Great Ormond Street Institute of Child Health), who is leading the epilepsy project, GeneSteps, in the UK, said: “We know that for at least 50% of babies with epilepsy, there is a genetic cause. For some, having a specific genetic diagnosis can change treatment and we want to know if finding the genetic problem earlier improves epilepsy and development in the long-term.”

The study will pioneer the use of rapid genome testing in epilepsy and will recruit 100 babies initially, with a larger study planned.

Fourteen-year-old Lucia, from London, was diagnosed with SCN8A-related epilepsy at GOSH. Her early life was consumed by lengthy periods of near-constant seizures.

Lucia’s mother, Katherine, said: “The years were spent living on hospital wards and ICU and searching for answers to a condition that was unresponsive to an endless stream of medicines and treatments.

“Finally, when Lucia was nine years old her condition was identified through a genetic test that had only recently become available. With this diagnosis the right medicine could be prescribed - a sodium channel blocker - and almost immediately Lucia’s seizures stopped.

“For the first time in her life, Lucia began to feel peace. And finally, we felt a different peace that comes from the end of a long and painful struggle for answers. Now, Lucia provides all who know her with happiness and love. And while we navigate the many challenges that her disabilities naturally present, we understand the value of having a diagnosis, not only on Lucia’s quality of life, but for the well-being of her family who are responsible for her ongoing care."

Katherine welcomed the new project, adding: “We stand in solidarity among all those who have endured similar, or greater, periods of ‘not knowing’ and we support this dedicated genetic testing at the moment of a young patient’s presentation. Because the nine years that Lucia waited for her diagnosis cost her, and her family, infinitely more than pain and heartache."

After initial seed funding by each institution, the collaborative anticipates additional funding through national health and medical research grants within each country, industry contracts, and philanthropic efforts. The collaborative as a whole has received support from the International Venture Philanthropy Network.

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Sophie Vinter

Tel: +44 (0)20 3108 7787

Email: s.vinter [at] ucl.ac.uk