Treating Niemann-Pick type C disease
There is no cure for Niemann-Pick type C disease (NP-C) and no universal NP-C management or treatment guidelines exist yet.1,2 The future development and implementation of screening programs, validated assessment techniques and treatment consensus guidelines are needed in order to optimize patient outcomes.
Management strategies include non-specific, symptomatic treatments and NP-C-specific therapies. Symptomatic therapies may be at least partially successful in treating some symptoms of NP-C but have no impact on disease progression or long-term outcomes (Table 1).1,2
Table 1. Symptomatic treatment of NPC1
NP-C-specific therapies
Recent advances in the understanding of NP-C pathophysiology has led to the development of a new NP-C-specific treatment that has a direct impact on the course of the disease. Other NP-C-specific treatments are currently in development and will significantly improve the outlook for patients.
In January 2009, a glycosphingolipid synthesis inhibitor was approved in the European Union for the treatment of progressive neurological manifestations in adult and pediatric patients with NP-C. By inhibiting glucosylceramide synthase, this drug prevents the synthesis of glycosphingolipids and in doing so reduces the accumulation of these lipids in patients with NP-C. This glycosphingolipid synthesis inhibitor is the first treatment to be approved for patients with NP-C and has been proven to stabilize or slow down neurological disease progression in NP-C patients.3
Several other promising approaches to NP-C-specific therapy are under investigation, including cholesterol depletion therapy, cell-signalling target therapies, neurosteroid replacement therapy 1,4 and sterol-binding agents.5
References
- Wraith JE, Imrie J. Understanding Niemann-Pick disease type C and its potential treatment. UK Blackwell Publishing, 2007.
- Patterson MC. Niemann-Pick disease Type C. Gene Reviews 2007a (updated 9 July). Accessible at: www.geneclinics.org. Accessed October 2008.
- Patterson MC, Vecchio D, Prady H et al. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet, Published online August 2 2007.
- Patterson MC. A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C. Neurologist 2003; 9: 301-10.
- Liu B, Turley SD, Burns DK et al. Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. PNAS 2009; 106; 7: 2377-2382
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