How is Niemann-Pick type C disease managed?

Recently significant advances have been made in the understanding of Niemann-Pick type C disease (NP-C). Although there is currently no cure for NPC, a new treatment and those still under development, may significantly improve the outlook for patients and offer hope for the future.

Until recently, management strategies for the disease included general therapies that are used to reduce symptoms but do not influence the outcome of the disease.  Symptoms that can be treated with general therapies include, but are not limited to:¹

	Sudden muscular weakness/collapse brought on by laughter (gelastic cataplexy) - can be treated by using tricyclic antidepressants or CNS stimulants
	Sustained muscle movements (dystonia) - can be treated by using anti-cholinergic drugs
	Movement restrictions - can be treated by using physical therapy
	Seizures - can be controlled by using anti-epileptic drugs
	Feeding problems resulting from difficulty in swallowing - can be managed with a feeding tube

In January 2009, a glycosphingolipid synthesis inhibitor was 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.² Glycosphingolipid synthesis inhibitors stop the fatty molecules (lipids), known as glycosphingolipids, from being formed and in doing so help to prevent them from building up in the brain.²

Other promising NP-C-specific therapies are under investigation.  These include cholesterol depletion therapies, cell-signaling target therapies, neurosteroid replacement therapies¹ and sterol-binding agents.³

References

1. Wraith JE, Imrie J. Understanding Niemann-Pick disease type C and its potential treatment. UK Blackwell Publishing, 2007.
2. 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.
3. 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