Spanish National Research Council

Efavirenz use for Niemann-Pick C treatment

Posted by Eva from Spanish National Research CouncilResponsive · Patents for licensing · Spain

Summary of the technology

CSIC has developed and brought to preclinical stage a novel non-invasive pharmacological treatment for Niemann Pick disease Type C (NPC) and other lysosomal storage disorders where cholesterol accumulates in the brain.

Spanish National Research Council

Description of the technology

Niemann Pick type C is a fatal disease caused by mutations in the cholesterol transport protein Npc1. The accumulation of cholesterol, particularly evident in lysosomes, leads to progressive neurodegeneration and to cognitive and psychiatric alterations in NPC patients. Currently, the only treatment approved for NPC is the iminosugar Miglustat, which prevents accumulation of gangliosides and delays neurological symptoms but does not cure the disease having serious side effects.

We have demonstrated that oral treatment with Efavirenz (EFV), which activates the cholesterol-degrading enzyme CYP46, prevents brain cholesterol accumulation and pathology in a mouse model for NPC (Npcnmf164mice).

We propose EFV treatment could be also suitable for many other neurological lysosomal storage disorders where brain cholesterol accumulation is a hallmark.

Main innovations and advantages

  • We have shown that Npc1 is not only present in lysosomes but also in synapses where it mediates the cholesterol rearrangement necessary to put in place neurotransmitter receptors.
  • Npc1 deficiency leads to cholesterol accumulation in synapses leading to morphological and functional synaptic alterations that result in memory and psychiatric issues.
  •  In vitro pharmacological activation of the enzyme CYP46 by EFV restores synaptic cholesterol levels and function.
  • Oral treatment with EFV prevents brain cholesterol accumulation, memory and psychiatric alterations and extends life span in  Npcnmf164mice.
  • EFV is already used for the chronic treatment of HIV patients at doses much higher than the ones used in our study.

Desired business relationship

Patent licensing

Technology development

Other :

Current development status


Pre-clinical stage

Intellectual property status

Patent already applied for

Technology Owner

Spanish National Research Council

Research & Technology Organization

Additional information (attached documents)

Related keywords

  • Biological Sciences
  • Medicine, Human Health
  • Pharmaceutical Products / Drugs
  • Medical Health related
  • Therapeutic
  • Therapeutic services
  • Chemicals and Materials
  • niemann-pick c

About Spanish National Research Council

Research & Technology Organization from Spain

The Spanish National Research Council (CSIC) is the largest public institution dedicated to research in Spain and the third largest in Europe. Belonging to the Spanish Ministry of Science, Innovation and Universities through the Secretary of State for Universities, Research, Development and Innovation, its main objective is to develop and promote research that will help bring about scientific and technological progress, and it is prepared to collaborate with Spanish and foreign entities in order to achieve this aim.

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