FDA Awards $4.1 Million In Funding For Rare Disease Research

The 2020’s may harken a new era for research into rare diseases as the FDA recently announced the approval of two grants totaling $4.1 million. The grants will specifically go to research for medullary thyroid carcinoma and Duchenne muscular dystrophy, but these subsequent findings will likely help researchers better understand the pathology of a number of illnesses.

The FDA appropriated approximately $1.7 million over four years for research into medullary thyroid carcinoma, and approximately $2.4 million over four years into research on Duchenne muscular dystrophy. Congress appropriates funding to the FDA to use for research on illnesses and disease, but often the most common diseases receive the majority of this funding. This new move will help spread resources to allow researchers to explore potential new treatments for less common, albeit just as serious, health illnesses. 

“The FDA is committed to funding these important studies in order to define how rare diseases develop and progress,” said FDA Principal Deputy Commissioner Amy Abernethy, M.D., Ph.D. in a press release. “Further, these studies provide important roadmaps for how to conduct subsequent studies. With the natural history of many rare diseases remaining relatively unknown, efficiently developing diagnostics and therapies for patients poses unique challenges. Promoting and conducting work in this area is critical.”

Medullary thyroid carcinoma is a rare form of thyroid cancer, accounting for only about three percent of all thyroid cancers. This form of thyroid cancer is caused by genetic alterations of cells found within the thyroid gland. The grant was awarded to the University of Texas MD Anderson Cancer Center in Houston Texas, Elizabeth Grubbs prospective study. According to the FDA press release, this study seeks to create a registry to characterize disease variables, including how patients adhere to chemotherapy in disease treatment. 

The second grant was awarded to Vanderbilt University Medical Center (Nashville, Tennessee), Jonathan Soslow for their prospective study in cardiac disease in Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is rare, affecting around 6 in 100,000 individuals in the U.S. and Europe. For individuals with DMD, cardiac disease, caused by the weakening of the heart muscles, is a common cause of death. The grant money will be used to combine genetic differences with imaging and blood biomarkers which may allow doctors to predict the risk of cardiac disease in not only DMD but also other related illnesses. 

According to Dr. Soslow, the goal of this study is to better define cardiac disease in DMD and to develop outcome measures for use in clinical trials, and are evaluating blood biomarkers and imaging measures using cardiac MRI.

“Cardiac disease is the leading cause of death in boys and young men with DMD,” explained  Soslow. “However, DMD research tends to focus on skeletal muscle disease. This grant will help us to better define the progression of cardiac disease and eventually allow us to make a meaningful difference in the lives of patients with DMD.”

Update (10/15/19): The original version of this article mistakenly had “Billion” in the title instead of “Million.”