CantuTreat

Cantú syndrome is a rare genetic disorder in which patients suffer from multiple symptoms, including hypertrichosis, distinctive facial features and cardiac abnormalities. Several life-threatening features of Cantú syndrome progress after birth, allowing good prospects for pharmaceutical intervention. In 2012 we discovered that Cantú syndrome is caused by gain of function mutations in ABCC9, an ATP dependent potassium channel (also known as inward-rectifier potassium channel or IKATP) and known pharmaceutical target. Mutations in the pancreatic form of this channel cause neonatal diabetes. Pharmaceutical correction of these channels by sulfonylurea drugs result in a nearly complete cure of the disease, and is current the standard treatment for this patient group. In analogy, we propose to develop Cantú syndrome treatment with sulfonylurea. Thus, we believe that treatment of the orphan disease Cantú syndrome is possible based on existing pharmacology and using approved drugs. Our consortium unites the crucial researchers and clinicial experts to work towards treatment of Cantú syndrome. The consortium has the expertise and model systems for testing this hypothesis by a combination of in silico, in vitro and in vivo approaches. Clinical experience in diabetes treatment and our own pilot experiments show that sulfonylurea based correction of IKATP current is feasible. In addition we will build a global patient registry to generate a critical mass of patients in order to ensure a rapid progression towards clinical application when this current preclinical study has finished.