Yahoo: Researchers find a new treatment for rare muscular disease

UC research presented at national meeting reveals a new possible treatment for Pompe disease

University of Cincinnati researchers have found a newer, more effective treatment for Pompe disease that could become the new standard of care for the rare condition.

Rare diseases are sometimes the most difficult to treat because of a lack of research and fewer participants to study. An example would be those who have Pompe disease, a genetic condition when a body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much glycogen builds up and damages muscles and organs. The disease causes muscle weakness and trouble breathing and can affect the heart and muscles.

Hani Kushlaf, MD, an associate professor in both the Department of Neurology and Rehabilitation Medicine and the Department of Pathology and Laboratory Medicine at UC and principal investigator of a study led at UC, will present findings on this new treatment virtually at the American Academy of Neurology on April 20. Kushlaf is also a UC Health physician and a member of the UC Gardner Neuroscience Institute. 

Read the full Yahoo story.

Read the UC News story.

Featured photo of Hani Kushlaf, MD, provided by UC Health.

Impact Lives Here

The University of Cincinnati is leading public urban universities into a new era of innovation and impact. Our faculty, staff and students are saving lives, changing outcomes and bending the future in our city's direction. Next Lives Here.

Stay up to date on all UC's COVID-19 stories, or take a UC virtual visit and begin picturing yourself at an institution that inspires incredible stories.

Related Stories

2

UC chief digital officer named 2025 Ohio ORBIE Awards Enterprise...

March 14, 2025

University of Cincinnati’s Vice President & Chief Digital Officer Bharath Prabhakaran was named 2025 Ohio ORBIE Awards Enterprise CIO of the Year. This award recognizes Bharath’s leadership in digital transformation, fostering innovation, and enhancing student success at the University of Cincinnati.

3

UC joins novel bipolar research and clinical care network

March 12, 2025

The University of Cincinnati is one of four new national institutions to receive $2.3 million each to join the Breakthrough Discoveries for Thriving with Bipolar Disorder (BD²) Integrated Network, a collaborative research and clinical care model with a mission to improve care, interventions and outcomes for people living with bipolar disorder.

Debug Query for this