Malissa J. Wood, MD at Harvard Medical School discusses the iSCAD Registry, which develops and maintains an independent, multi-center data repository to advance the pace and breadth of SCAD research around the world. Spontaneous coronary artery dissection (SCAD) is a rare condition and occurs when a tear forms in one …
The process for researching and developing new medicines is notoriously time-consuming, complicated and costly – and even more so when it comes to therapies for rare diseases.
The U.S. Food and Drug Administration (FDA) granted Fast Track designation for PD-0325901, an investigational, oral, small molecule inhibitor of MEK1 and MEK2, for the treatment of patients 2 years of age or older with neurofibromatosis type 1-associated inoperable plexiform neurofibromas that are progressing or causing significant morbidity.
Vanessa Vogel-Farley, Executive Director of the Dup15q Alliance, discusses research in this rare disease, including the ARCADE trial, a phase 2 open-label pilot study.
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.
Daniel de Boer, Founder and CEO of ProQR, discussuses Usher syndrome, a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa.