by Peter Ciszewski | Jan 30, 2020
Eric T. Wong, MD, Associate Professor at Harvard Medical School discusses some of the reasons that a patient will be interested in participating in a clinical trial, especially one involving a rare disease. Some of the reasons include: No treatment is currently...
by Peter Ciszewski | Jan 29, 2020
The US Food and Drug Administration (FDA) has published six guidances focused on gene therapy, including one specific for rare diseases.The six guidances are: Chemistry, Manufacturing, and Control (CMC) Information for Human Gene Therapy Investigational New Drug...
by Peter Ciszewski | Jan 28, 2020
Claudio Santos, MD, MBA of PTC Therapeutics describes his company’s current therapies focused on Duchenne muscular dystrophy (DMD), including Translarna (ataluren) in Europe and Emflaza (deflazacort) in the United States. DMD is a progressive form of...
by Peter Ciszewski | Jan 27, 2020
Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, talks about Recommended Uniform Screening Panel (RUSP). RUSP is the list of diseases, mostly rare diseases, that the Secretary of the Department of Health and...
by Peter Ciszewski | Jan 25, 2020
This week, numerous studies were published in peer-reviewed journals that highlight some of the innovative work that researchers around the world are doing to advance our understanding of rare conditions. Below are some of the highlights. Teprotumumab for the...
