#51 Niemann-Pick Type C: Understanding Symptoms, Genetics, and New Treatments

In this episode of It Happened To Me, we dive into the world of Niemann-Pick Type C (NPC), a rare genetic condition that affects fewer than 1,000 people in the United States. NPC is a progressive disorder impacting the brain, nerves, and major organs, often referred to as "childhood Alzheimer’s" due to its neurological effects.

Our guests bring both personal and professional expertise to the conversation:

• Barbara Lazarus is the mother of two adult sons (now in their 30s), who have Niemann-Pick Type C disease.  David is taking Myplyffa, through an expanded access program.  Both David and her brother Daniel have been seen at UCSF Benioff Oakland Children’s Hospital in the Bay Area of California.  She is a knowledgeable patient advocate of NPC. 
• Dr. Caroline Hastings is a Pediatric Hematologist Oncologist and Professor of Pediatrics at UCSF Benioff Children's Hospital Oakland. In addition to her specialization in pediatric cancer and blood diseases, including a focus on tumors of the brain and spinal cord, her clinical and academic interests have focused on children and adults with rare lysosomal storage diseases. Her particular area of expertise and interest is in Niemann-Pick Type C disease, a rare debilitating genetic disease that until now has been elusive to a therapeutic intervention. She has been involved in developing new drugs and treatment strategies with the hope to improve quality of life and longevity for these patients.C.

Together, they provide a comprehensive look at NPC, from its symptoms and genetic causes to the challenges of diagnosis and the hope brought by new FDA-approved treatments like Miplyffa.

Topics Discussed:

• How Niemann-Pick Type C affects the body.
• Early signs, symptoms, and progression of NPC in children and adults.
• The genetics of NPC and its inheritance patterns.
• The challenges of diagnosing such a rare condition and the role of genetic counseling.
• Insights into the newly FDA-approved treatment, Miplyffa, and its impact on patients like Barbara’s son David.
• The importance of specialized medical centers for NPC care and the role of advocacy and community support.

Key Takeaways:

• NPC is caused by mutations in the NPC1 and NPC2 genes, leading to the buildup of cholesterol and lipids in cells.
• Early diagnosis and specialized care are crucial for managing the condition and accessing treatments.
• The approval of Miplyffa marks a significant milestone, offering new hope for families affected by NPC.

Resources Mentioned:

• UCSF Benioff Oakland Children’s Hospital Neurology Center
• National Niemann Pick Disease Foundation
• Information on FDA-approved treatments like Miplyffa

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