The Rare Disease Report Podcast: Niemann-Pick Disease

Published on: August 4, 2021

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

Quick Facts about Niemann-Pick Disease

The disease refers to a group of disorders: Type A, B, C1, and C2.
Type A is the most severe form; Type C is the most common.
Lipids may accumulate in the brain, spleen, liver, lungs, and bone marrow.
It is autosomal recessive.
The manifestations are diverse; a host of neurological symptoms may occur.
Patients may develop NP, especially NPC, any time in their life. However, the disease usually manifests early in life.
The disease is panethnic but has a higher rate among populations with greater consanguinity.
There is no cure for this disease.

Quotes of Interest

Historically, Niemann-Pick was discovered as a disease back in 1900 when a pediatrician noticed a child with an enlarged liver, enlarged spleen, and neurologic symptoms.

Most patients will unfortunately succumb to the disease before the age of 20. But for those who present with symptoms in their 20s, or sometimes up to 50 or 60 years old, those patients can live for decades with varying amounts of disability.

Diagnosis is becoming easier when clinicians suspect Niemann-Pick disease. [The process of sending for genetics to confirm Niemann-Pick] is becoming more common.

Patients tend to be treated symptomatically.

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.

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