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Preclinical trial with efavirenz for the treatment of Niemann-Pick C disease

A team of scientists from the Centro de Biología Molecular Severo Ochoa (CMBSO-CSIC) has developed a new treatment for the Niemann-Pick disease type C (NPC) based on the drug efavirenz. The study is at the preclinical stage.

Cholesterol and lysosome labeling by Filipin (green) and LAMP1 (red) staining, respectively, in the brain of  Npcnmf164 mice treated or not with EFVNPC is a lysosomal storage disorder in which cholesterol accumulates in the brain. It is a rare disease, though its incidence figures are progressively increasing because diagnostic methods are  improving. Currently, miglustat is the only treatment approved in Europe that stabilises the progressive neurodegeneration symptoms. However, it does not lead to a complete healing and it has significant side effects. The NPC involves functional and morphological synaptic alterations and it is associated with motor, cognitive and psychiatric problems.

The preclinical experiment of the CBMSO has been carried out on genetically modified mice, which have a mutation in the gene encoding the cholesterol transport protein Npc1. These mice mimic the disease and therefore have cholesterol storage in the brain. The oral treatment with efavirenz activates an enzyme that mediates in the degradation of cholesterol, which reduces the levels of the lipid in the brain of mice, prevents their motor and cognitive alterations and extends their life expectancy by 30%.

Efavirenz reduces the levels of the cholesterol in the brain of mice and extends their life expectancy by 30%

Efavirenz is an active principle widely used in the treatment of HIV, with doses much higher than those used in NPC mice. It is also a compatible treatment with miglustat. Currently, the drug is also being used in clinical trials for the treatment of Alzheimer’s.

The next phase of the research is the clinical trial with human patients, and has been scheduled for the end of the year with 10 people affected by NPC. Scientists are considering to  use a dose of efavirez 10 times lower than the one used in the tests on mice.

Contact

Eva Gabaldón Sahuquillo
Vicepresidencia Adjunta de Transferencia del Conocimiento Consejo Superior de Investigaciones Científicas (CSIC)
Tel.: 91 568 15 50
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A team of scientists from the Centro de Biología Molecular Severo Ochoa (CMBSO-CSIC) has developed a new treatment for the Niemann-Pick disease type C (NPC) based on the drug efavirenz. The study is at the preclinical stage