Ideaya Biosciences announced that the company has entered into a Sponsored Research Agreement with Boston Children’s Hospital 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.
Under the agreement, Ideaya will collaborate with and support research at Boston Children’s Hospital in the laboratory of Joyce Bischoff, PhD, Research Associate, Department of Surgery and Professor, Harvard Medical School, who is Principal Investigator of the research studies. The preclinical research will evaluate IDE196, a potent, selective PKC inhibitor, in vitro–to assess whether pharmacological inhibition of PKC in endothelial cells having GNAQ mutations will restore normal cell function, as well as in vivo–to assess whether pharmacological inhibition of PKC can regulate blood vessel size in murine models that recapitulate enlarged vessels seen in SWS capillary malformations.
SWS is a rare disease characterized by a facial birthmark, neurological abnormalities (e.g. seizures) and glaucoma, which occurs in 1 to 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 in a reported 88% (n=26) of SWS patients. (NEJM Shirley et al., May 2019).
“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,” Dr. Bischoff said in a company news release.
IDE196 is a potent, selective, small molecule inhibitor of protein kinase C (PKC), which Ideaya is evaluating 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,” Yujiro S. Hata, Chief Executive Officer and President at Ideaya Biosciences, said in the news release. “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.”