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Four leading childrens hospitals announce IPCHiP | Overview

Genomic study of infant epilepsy launching as first project; other hospitals expected to join in the future

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

The four pediatric hospitals — Boston Children’s Hospital; UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital (London); the Murdoch Children’s Research Institute with The Royal Children’s Hospital (Melbourne); and The Hospital for Sick Children (SickKids) (Toronto) — will pool their medical and scientific expertise to analyze medical and genomic data to accelerate discovery and therapeutic development.

The partnership, known as the International Precision Child Health Partnership (IPCHiP), is to the founders’ knowledge 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 can cause children to suffer their whole lives or to die early from complications, sometimes just a day after birth.

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

“We’re looking to combine the strength of each institution and find areas where we can pair genomic data with phenotype data to find answers for these patients,” says David A. Williams, MD, chief scientific officer of Boston Children’s Hospital and an IPCHiP principal investigator. “We will prioritize projects that have the possibility of making a difference in their care, by developing new therapies and perhaps by repurposing an existing drug.”

Exploring epilepsy in infants

IPCHiP’s first project will involve epilepsy in infants, bringing together efforts already underway at the four centers. Through this project, IPCHiP will establish systems to evaluate data responsibly across the different institutions. No patient will be identifiable and no patient data will be shared across international borders.

Investigators at each site will prospectively enroll babies under age 1 with epilepsy, sequence their genomes, change treatment based on the findings as appropriate, and follow their development long term. The study will compare infants who receive a genetic diagnosis with those for whom no genetic answer can be found.

“We hope to demonstrate the impact of an early genetic diagnosis in babies with epilepsy,” says Annapurna Poduri, MD, MPH, who is leading the Boston Children’s Hospital arm of the epilepsy project. “Will children who obtain a precise genetic diagnosis have changes in treatment and fewer seizures? Will these changes improve survival and developmental outcomes? This collaboration is an opportunity to systematically provide answers to these questions, starting with a pilot of 100 children and hopefully extending to several hundred children in the coming years.”

“We’re bringing together the world’s top experts in genomics, rare disease, pediatric medicine, and computational science to develop precision approaches to benefit children everywhere,” says Williams. “In addition, we think our combined patient cohorts will enable partnership with industry when a discovery advances to clinical trials.”

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 initial collaborative effort has received support from the International Venture Philanthropy Network to Boston Children’s Hospital. This IPCHiP collaboration extends the 2019 initiative to sequence rare disease patients locally at Boston Children’s Hospital.