Researchers from Children’s Hospital of Philadelphia (CHOP) are among a consortium of 10 organizations that has been selected to receive funding from the Advanced Research Projects Agency for Health (ARPA-H) under its THRIVE program. The award, for up to $34.5 million, will fund the Pediatric Epilepsies and Rare CNS (PERC) Gene Editing Platform – a collaboration of academic researchers, clinicians, patient advocates, and biotechnology companies aiming to develop gene-editing treatments for children with rare forms of epilepsy. THRIVE is led by ARPA-H Program Manager Daria Fedyukina, PhD.
Developmental and epileptic encephalopathies affect more than three million children worldwide and are caused by mutations across more than 400 different genes. Because any single mutation may affect only a few patients globally, economic incentives for traditional commercial drug development are often lacking. The ARPA-H effort is designed to create a platform that shares manufacturing, regulatory precedent, and clinical infrastructure across diseases to address this gap and potentially reach many more patients.
The PERC platform will initially focus on two severe childhood conditions caused by genetic mutations in the brain. The first is Alternating Hemiplegia of Childhood (AHC), a rare disorder caused by mutations in the ATP1A3 gene, in which children experience episodes of temporary paralysis, as well as developmental delays and seizures. The second is Dravet syndrome, caused by mutations in the SCN1A gene, which leads to prolonged, uncontrollable seizures beginning in infancy and can result in lifelong disability or death.
The CHOP team will contribute expertise related to the Dravet Syndrome project including use of preclinical experimental models of Dravet Syndrome and preclinical testing of gene editing therapies, as well as contribution to future clinical implementation in the Dravet Syndrome patient population.
CHOP’s team is led by Ethan M. Goldberg, MD, PhD, Attending Physician and Professor in the Divisions of Neurology, Neuroscience, and Pediatrics, and Director of the CHOP Epilepsy Neurogenetics Initiative (ENGIN), which is recognized as a Dravet Syndrome Comprehensive Care Center by the Dravet Syndrome Foundation. CHOP’s team also includes Sophie Hill, PhD, a postdoctoral fellow in the Goldberg lab and co-first author of a recent collaborative publication with The Jackson Laboratory and The Broad Institute – the lead institution overseeing the consortium – reporting correction of Dravet Syndrome in a preclinical model using base editing.
The collaboration includes the Broad Institute, Boston Children’s Hospital, The Jackson Laboratory, Children’s Hospital Colorado, Children's Hospital of Philadelphia, Apertura Gene Therapy, Viralgen, Rare Epilepsy Network, RARE Hope, and the Dravet Syndrome Foundation. PERC is also part of a broader coalition that includes Critical Path Institute, N=1 Collaborative, Global Genes, Worldwide Clinical Trials, Beam Therapeutics, Prime Medicine, and Mahzi Therapeutics.
Learn more about this award and others in the official announcement from ARPA-H.
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Researchers from Children’s Hospital of Philadelphia (CHOP) are among a consortium of 10 organizations that has been selected to receive funding from the Advanced Research Projects Agency for Health (ARPA-H) under its THRIVE program. The award, for up to $34.5 million, will fund the Pediatric Epilepsies and Rare CNS (PERC) Gene Editing Platform – a collaboration of academic researchers, clinicians, patient advocates, and biotechnology companies aiming to develop gene-editing treatments for children with rare forms of epilepsy. THRIVE is led by ARPA-H Program Manager Daria Fedyukina, PhD.
Developmental and epileptic encephalopathies affect more than three million children worldwide and are caused by mutations across more than 400 different genes. Because any single mutation may affect only a few patients globally, economic incentives for traditional commercial drug development are often lacking. The ARPA-H effort is designed to create a platform that shares manufacturing, regulatory precedent, and clinical infrastructure across diseases to address this gap and potentially reach many more patients.
The PERC platform will initially focus on two severe childhood conditions caused by genetic mutations in the brain. The first is Alternating Hemiplegia of Childhood (AHC), a rare disorder caused by mutations in the ATP1A3 gene, in which children experience episodes of temporary paralysis, as well as developmental delays and seizures. The second is Dravet syndrome, caused by mutations in the SCN1A gene, which leads to prolonged, uncontrollable seizures beginning in infancy and can result in lifelong disability or death.
The CHOP team will contribute expertise related to the Dravet Syndrome project including use of preclinical experimental models of Dravet Syndrome and preclinical testing of gene editing therapies, as well as contribution to future clinical implementation in the Dravet Syndrome patient population.
CHOP’s team is led by Ethan M. Goldberg, MD, PhD, Attending Physician and Professor in the Divisions of Neurology, Neuroscience, and Pediatrics, and Director of the CHOP Epilepsy Neurogenetics Initiative (ENGIN), which is recognized as a Dravet Syndrome Comprehensive Care Center by the Dravet Syndrome Foundation. CHOP’s team also includes Sophie Hill, PhD, a postdoctoral fellow in the Goldberg lab and co-first author of a recent collaborative publication with The Jackson Laboratory and The Broad Institute – the lead institution overseeing the consortium – reporting correction of Dravet Syndrome in a preclinical model using base editing.
The collaboration includes the Broad Institute, Boston Children’s Hospital, The Jackson Laboratory, Children’s Hospital Colorado, Children's Hospital of Philadelphia, Apertura Gene Therapy, Viralgen, Rare Epilepsy Network, RARE Hope, and the Dravet Syndrome Foundation. PERC is also part of a broader coalition that includes Critical Path Institute, N=1 Collaborative, Global Genes, Worldwide Clinical Trials, Beam Therapeutics, Prime Medicine, and Mahzi Therapeutics.
Learn more about this award and others in the official announcement from ARPA-H.
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Ben Leach
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