Collaborative effort to develop rare disease patient registries

The Orphan Disease Center in the Perelman School of Medicine at the University of Pennsylvania will collaborate with Pulse Infoframe Inc., a medical informatics company, to develop rare disease patient registries aimed at enabling international collaboration to better understand these diseases, as well as accelerate and improve clinical studies to develop new therapies.

"Our aim is to unite the respective rare disease patient, foundation, pharma, biotech, and academic communities to overcome common obstacles in the process of developing new therapies for rare diseases," said Ashley Winslow, PhD, senior director of the Orphan Disease Center (ODC) at Penn Medicine. "By building a strong foundation that facilitates communication between different communities of people with rare diseases, we have a unique opportunity to change the way patient communities can participate in research. We are building a global database that is very different from current databases built by an individual disease expert or lab."

The collaboration will begin with registries for CDKL5 Deficiency and Crigler-Najjar syndrome. CDKL5 Deficiency, a severe epilepsy disorder with infantile onset, involves cyclin-dependent kinase-like 5 (CDKL5), a protein whose gene is located on the X chromosome. The CDKL5 gene provides instructions for making a protein that is essential in forming nerve cell connections for normal brain development, with mutations causing a deficiency in the protein level. Crigler-Najjar syndrome is a congenital familial disorder in which glucuronyl transferase, an enzyme, is deficient or absent. The condition is characterized by nonhemolytic jaundice, an accumulation of bilirubin in the blood, and severe disorders of the central nervous system.

"Natural history data are essential in establishing best clinical practices and conducting pivotal clinical trials in rare diseases," said James M. Wilson, MD, PhD, director of the Orphan Disease Center and a professor of Medicine and Pediatrics at Penn Medicine. "This partnership will help us address this important gap for CDKL5 deficiency and Crigler-Najjar syndrome, which are the first of many registries that the Orphan Disease Center will develop in collaboration with Pulse Infoframe."

"The Orphan Disease Center's commitment to empowering the patient voice globally represents a tremendous opportunity to intercept disease-causing processes as we learn more about each condition," said Femida Gwadry-Sridhar, RPh, PhD, Pulse Infoframe founder and CEO.