Boston Children’s Hospital inked a Sponsored Research Agreement with IDEAYA Biosciences (NASDAQ: IDYA) recently 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 mutations in GNAQ. IDYA is an oncology-focused precision medicine company.
SWS is a rare disease characterized by a facial birthmark, neurological abnormalities (e.g., seizure), 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 the skin or brain tissue, which enhances signaling in the PKC pathway in a reported 88% (n=26) of SWS patients, as reported in the NEJM by Shirley et al., May 2019. A large number of people with SWS experience seizures or convulsions. Other complications may include increased pressure in the eye, developmental delays, and weakness on one side of the body.
Sponsored Research Agreement
Under this agreement, IDEAYA will collaborate with and support research at Boston Children’s Hospital in the laboratory of Dr. Joyce Bischoff, Research Associate Department of Surgery and Professor, Harvard Medical School, and who is Principal Investigator of the research studies.
The Preclinical Research
The early-stage research evaluates 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 determine whether pharmacological inhibition of PKC can regulate blood vessel size in murine models that recapitulate enlarged vessels seen in SWS capillary malformations. Lead Research/Investigator
Dr. Joyce Bischoff, PhD, Research Associate, Department of Surgery and Professor, Harvard Medical School