New Partnership to Assess an Experimental Treatment for Sturge Weber Syndrome

According to a story from Gurufocus, the precision medicines company IDEAYA Biosciences, Inc. and the Boston Children’s Hospital have recently entered into a Sponsored Research Agreement. The arrangement will entail the preclinical evaluation of the company’s investigational inhibitor of protein kinase C (PKC) as a treatment for Sturge Weber syndrome, a rare disorder. This inhibitor is known under the designation IDE196.

About Sturge Weber Syndrome

Sturge Weber syndrome, which is also referred to as encephalotrigeminal angiomatosis, is a rare neurocutaneous disorder that is often characterized by discolorations of the facial skin called port-wine stains, along with other symptoms. The rare genetic syndrome is not inherited, and is instead caused by a mutation that appears spontaneously. This mutation affects the GNAQ gene. The most defining feature of Sturge Weber syndrome is the port-wine stain on the face, which often appears on the eyelid and forehead and may at times cover most of the face. Neurological problems may appear and tend to progressively worsen; these include convulsions and weakness on one side of the body. Other symptoms include headaches, vision problems, seizures, and developmental delays. Treatment is symptomatic and may include laser treatments for the birthmark, certain medications or surgery, and physical or educational therapy. The disorder affects around one in every 50,000 people. To learn more about Sturge Weber syndrome, click here.

Plans for Research

Before being tested directly in patients with the disorder, IDE196 will be tested in other diseases in which GNAQ mutations may be present, including cutaneous melanoma and metastatic uveal melanoma. This testing will occur in a phase 1/2 basket clinical trial. 

The agreement will expect IDEAYA to support research headed by Dr. Joyce Bischoff. Her laboratory will be the primary investigative body in the future research studies involving IDE196. A common characteristic of Sturge Weber are malformation of the capillaries, which often become enlarged. The scientists are hoping that inhibiting PKC can control blood vessel size. 

At this juncture, there are no FDA approved treatments for the syndrome that intervene in the disease mechanisms. Hopefully, the findings from this research will lead to the introduction of a new and more effective therapy. 


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