Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

The Netherlands
Sulfonylurea drugs to treat Cantú syndrome

Project Coordinator

University Medical Center Utrecht
The Netherlands


Marcel van der Heyden University Medical Center Utrecht Utrecht, The Netherlands
Anna Stary-Weinzinger University of Vienna Vienna, Austria
Ricardo Caballero Universidad Complutense de Madrid Madrid, Spain
Colin Nichols Washington University School of Medicine St Louis, USA
Sarah Francesca Smithson St Michael's Hospital Bristol Bristol, UK

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.

E-Rare 2012 - Created by Toussaint Biger