A clinical trial at IDIBELL and the Bellvitge University Hospital (HUB) will provide new treatment expectations for patients with Niemann Pick type C, a minority disease of genetic origin with no curative treatment. The study aims to determine the efficacy and safety of Efavirenz to help alleviate cognitive impairment, learning and behavior problems and improve the patient’s life quality. Efavirenz is an antiretroviral drug that used against HIV for many years and for which the generic pharmaceutical specialty is already available.
The new therapeutic activity of Efavirenz was discovered within the framework of a basic research project in Neurobiology, directed by Dr. María Dolores Ledesma, at the Severo Ochoa Molecular Biology Center in Madrid between 2014 and 2020. The good response in animals, in which the drug has improved the function of an enzyme that regulates cholesterol dstribution in the synapse, has opened the door to human transfer.
Led by the neurologist Jordi Gascón, principal investigator of the IDIBELL Neurological and Neurogenetic Diseases research group and head of the Neurology Service section of the Bellvitge University Hospital (HUB), with the collaboration of the clinical pharmacologist Sebastià Videla, head of the Unit of HUB-IDIBELL Research Support, translational research has now begun to validate the use of Efavirenz in patients at the Bellvitge University Hospital. The regulated trial has the participation of 14 of the 27 patients diagnosed with Niemann Pick type C in Spain. So far, there is no cure for Niemann Pick disease, which affects 1 in 150,000 people, since it is unknown what is the causes. The forecast is that the study will last 52 weeks, that is, one year.
The trial has been fully financed by the Juan Girón research grant from the Fundación Niemann Pick España, based in Lleida, which has the support of affected families, friends, volunteers, and other collaborators. Homonymous European and international organizations have expressed their desire to replicate the design of this study to carry it out worldwide, to advance in many fields of the disease. However, support would have to be secured to have the necessary funding to get it off the ground.
A progressive and fatal disease without care
Under the umbrella of Niemann Pick disease there is a heterogeneous group of lysosomal lipid accumulation diseases classified into four subgroups, from A to D. Types A and B (or ASMD) have no treatment. Until now, the only treatment available in Europe is Miglustat, a drug that inhibits the enzyme responsible for the first step in the synthesis of glycosphingolipids. This treatment is limited to neurological manifestations in adult and pediatric patients in types C and D.
Niemann-Pick type C disease is transmitted by autosomal recessive inheritance. It is neurodegenerative disease and causes cholesterol and sphingolips transport problems in the lysosomes, cell vesicles responsible for the substance trafficking. Thus, the accumulation of lipids is responsible for the cell and synapse dysfunction.
Patients can start experiencing symptoms at different ages, from infants to adults. They present very diverse clinical symptoms, usually affecting the nervous system and with visceral involvement in the liver, spleen, and, in more severe cases, the lungs and, ultimately, the brain.
The involvement of the nervous system is highly variable: cognitive difficulties, behavioral and psychiatric problems, epilepsy, limitation of eye movement, dystonia, ataxia, or splenomegaly, among others. “The effective use of Efavirenz in humans will mean greater life expectancy and life quality for patients and families, since mice improved cognitively and behaviorly and extended its life expectncy,” pointed out Dr. Jordi Gascón, coordinator of the clinical trial and member of the Minority Diseases Group of the Bellvitge University Hospital.
“Thanks to the collaboration of a researcher, a clinician, and a pharmacologist expert in regulation, a significant impact could be achieved in families and patients’ lives. We have shared the sensitivity to help these families selflessly and non-profit. We hope to have positive results on a local scale to be able to share this knowledge with the international research network on Niemann Pick and rare diseases soon”, says Dr. Videla, head of the HUB-IDIBELL Research Support Unit.
The Bellvitge Biomedical Research Institute (IDIBELL) is a biomedical research center created in 2004. It is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona and the City Council of L’Hospitalet de Llobregat.
IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the “HR Excellence in Research” program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL has been an Accredited Center of the AECC Scientific Foundation (FCAECC).
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