The Rare Disease Report Podcast: Niemann-Pick Disease

August 4, 2021
Jonathan Alicea

Jonathan Alicea is an assistant editor for HCPLive. He graduated from Princeton University with a degree with English and minors in Linguistics and Theater. He spends his free time writing plays, playing PlayStation, enjoying the company of his 2 pugs, and navigating a right-handed world as a lefty. You can email him at jalicea@mjhlifesciences.com.

Sharon Hrynkow, PhD, joins the Rare Disease Report to discuss the ultra rare and heterogenous lysosomal storage disorder.

Niemann-Pick disease is group of rare disorders affecting the proper storage of fats across organs. According to the United States National Institute of Neurologic Disorders and Stroke, the condition occurs when “harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow.”

There are various types of disease, known as Niemann-Pick A, B, and C. Type C is further divided into C1, the most common type, and C2. 

What makes this disease more difficult to diagnose and treat is its extreme heterogeneity in symptoms and prognosis. While individuals with type A typically die in infancy, individuals with type B may live a longer lifespan requiring supportive care. The life expectancy of type C is more variable. Even more, the disease may not be diagnosed until adulthood.

On this episode of the Rare Disease Report, Sharon Hrynkow, PhD, Chief Scientific Officer and Senior VP for Medical Affairs at Cyclo Therapeutics, discussed the various manifestations of Niemann-Pick—with a particular focus on Niemann-Pick type C. She spoke in detail on the daily challenges faced by patients, highlighting in particular the neurological symptoms of the condition.

Hyrnkow further discussed the clinical trial program of a new agent developed by Cylco Therapeutics for Niemann-Pick C and expressed hope that new therapeutics may someday and finally be available for this underserved patient population.

Listen to The Rare Disease Report on your favorite podcast platforms, including Spotify and Apple Podcasts.


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