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About This Disease

Niemann-Pick Type C1 is a progressive and neurodegenerative genetic fatal disease caused by a buildup of cholesterol in the brain, liver and spleen.


About This Disease

Until more research and treatment are available, the majority of children afflicted with NPC1 will die before age 20.


About This Disease

Symptoms of NPC1 are hard to detect. Diagnosis often takes years.


About This Disease

Symptoms include ataxia, the balance disorder that causes clumsiness and frequent falling; developmental delay; difficulty swallowing; vertical gaze palsy, or difficulty moving the eyes rapidly up and down; and enlargement of the liver or spleen.


About This Disease

Currently, researchers are engaged in a clinical trial testing the effectiveness of a promising new drug, VTS-270.


Belle and Abby's Story

On March 10, 2016, Pam and Chris Andrews were told their daughter Belle, only six years old, would be unlikely to live past her teenage years. It’s a parent’s worst nightmare. No, it’s worse than that. Because NPC1 is such a rare disease that no parent would even know to fear it could happen to their child. NPC1 is also a genetic disease, so shortly after Belle’s diagnosis, the Andrews’ nightmare was magnified when they found out their other daughter, Abby, had inherited the disease, too. Abby is only two years old.

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Latest News & Events
Wrapping Up Year of Progress: Advancing Newborn Screening for NPC

Firefly Fund’s Newborn Screening Working Group completed its final meeting of the year in December — the Annual Stakeholder Meeting. While in Washington, D.C., the Working Group reviewed the year’s…Read More

Identifying Rare Diseases In Newborns: Broader Screening For Better Outcomes

Pediatric genetic expert Dr. Melissa Wasserstein has been awarded $3.2 million from the National Institutes of Health (NIH) to conduct the most expansive consented pilot newborn screening study in the…Read More




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