Niemann-Pick Disease Type C: Integrating FDA-Approved Therapies and Best Practices in Patient Management

At the conclusion of this course, participants will be able to:

1. Explain the pathophysiology and diagnostic methods of Niemann-Pick Disease Type C.

2. Evaluate FDA-approved therapies and emerging treatment strategies for patients with Niemann-Pick Disease Type C.

3. Plan multidisciplinary care strategies that integrate pharmacologic treatments and rehabilitation therapies.

FDA approvals have expanded treatment options for neurological manifestations of Niemann-Pick disease type C (NPC). Healthcare professionals involved in NPC diagnosis and management must understand the indications, dosing, safety considerations, monitoring needs, and limitations of arimoclomol used with miglustat and levacetylleucine. Healthcare professionals must stay informed about these developments to provide evidence-based care that optimizes patient outcomes. Additionally, the expanding pipeline of investigational treatments, including gene therapy and substrate reduction strategies, underscores the importance of staying current with emerging research. This course equips healthcare professionals with the knowledge needed to navigate the complexities of NPC management, ensuring early diagnosis, informed treatment decisions, and a multidisciplinary approach to patient care.

This activity is relevant to Physicians (MDs), Physician Assistants, Advanced Practice Providers, and all other Healthcare Professionals who evaluate patients with unexplained visceral, neurological, cognitive, psychiatric, swallowing, movement, or respiratory findings and who participate in the diagnosis or longitudinal management of Niemann-Pick disease type C. The content supports clinical responsibilities that include constructing a differential diagnosis, ordering and interpreting biomarker and genetic testing, selecting and prescribing FDA-approved treatment, adjusting therapy for renal function, monitoring safety and neurological progression, managing complications, counseling patients and families, coordinating specialty referrals, discussing clinical-trial participation, and integrating palliative care and advance care planning. Because NPC is rare and clinically heterogeneous, treatment decisions should be individualized and coordinated with clinicians experienced in lysosomal storage disorders (Geberhiwot et al., 2018; Patterson, 2000).