Industry-Sponsored Research Week

Boston Children’s Hospital enters collaboration for pre-clinical study of molecule targeting Sturge Weber syndrome


By David Schwartz
Published: January 14th, 2020

Boston Children’s Hospital (BCH) has signed a sponsored research agreement with IDEAYA Biosciences, Inc., an oncology-focused precision medicine company, for preclinical evaluation of the role of protein kinase C (PKC) in Sturge Weber syndrome (SWS), a rare neurocutaneous disorder characterized by capillary malformations and associated with mutations in GNAQ.

SWS is a rare disease characterized by a facial birthmark, neurological abnormalities (e.g. seizures) and glaucoma, which occurs in 1 of 20,000 to 50,000 live births. The disease is believed to be mediated by a somatic GNAQ mutation in skin or brain tissue which enhances signaling in the PKC pathway.

Under the agreement, IDEAYA will collaborate with and support research in the lab of Joyce Bischoff, PhD, research associate in BCH’s Department of Surgery and professor at Harvard Medical School. The preclinical research will involve in vitro evaluation of IDE196 — a potent, selective PKC inhibitor — to assess whether pharmacological inhibition of PKC in endothelial cells having GNAQ mutations will restore normal cell function. In vivo tests will also be conducted to assess whether pharmacological inhibition of PKC can regulate blood vessel size in murine models that mimic the enlarged vessels seen in SWS capillary malformations.

“SWS is a rare disease that can present debilitating symptoms for patients, such as choroidal hemangiomas which may lead to glaucoma. There are no current FDA approved treatments specifically developed for SWS — highlighting the high unmet medical need for these patients,”  Bischoff stated.

IDEAYA is already evaluating IDE196 in a Phase 1/2 basket trial in patients with Metastatic Uveal Melanoma or other solid tumors, such as cutaneous melanoma, having GNAQ or GNA11 hotspot mutations which enhance signaling in the PKC pathway. 

“We are excited to work with Boston Children’s Hospital to evaluate IDE196 activity in preclinical models relevant to Sturge Weber, a rare disease believed to be driven by genetic mutation of GNAQ.  This important work is part of our broader strategy to deliver precision medicine therapies for patients with GNAQ or GNA11 mutations, by targeting the underlying biology of the disease,” said IDEAYA President and CEO Yujiro S. Hata.

Source: Cision

Posted under: University-Industry Engagement Week

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