The Niemann-Pick Spain Foundation has given IDIBELL and Bellvitge Hospital
a cheque for 104,884 euros that will be used entirely for the continuation of a
study to determine the efficacy and safety of the drug Efavirenz in the treatment
of cognitive impairment in patients with this rare genetic disease for which there
is currently no cure. The first results of the trial have provided quite encouraging
results.
The president of the foundation, Carmelo Fernández, gave the cheque to Dr.
Jordi Gascon, neurologist and principal investigator of the neurological and
neurogenic diseases group of IDIBELL and Bellvitge Hospital, in an event at the
center, on November 8. Dr. Gabriel Capellà, director of the Institute, and Sílvia
Cordomí, deputy manager of the HUB and the Viladecans Hospital, as well as
other members of the Niemann-Pick Foundation, also attended.
Dr. Gascón thanked the tireless effort of the Niemann-Pick Foundation to
promote research as a tool to improve the quality of life of patients with an
independent clinical trial carried out with all the guarantees. Carried out with 16
patients (there are about 27 in the whole of Spain), the first results of the
administration of Efavirenz indicate benefits in cognitive and behavioral scales,
especially in patients with less time of evolution of the disease. That is why new
studies are now needed to expand the results, as Dr. Gascón highlighted.
Efavirenz is an antiretroviral drug used in the treatment of HIV that improves the
function of an enzyme that regulates the distribution of cholesterol at the
synapse, making it a great candidate for Niemann-Pick.
Niemann-Pick disease is a hereditary neurodegenerative disease characterized
by the accumulation of different types of lipids (sphingomyelin, cholesterol) that
causes visceral and nervous system alterations. It is divided into four types (A,
B, C, and D) depending on the affected gene, which determines a different
clinical profile. The most common symptoms are cognitive impairment, epilepsy,
behavioural disorder, vertical gaze paralysis, ataxia, dystonia and
splenomegaly. Existing treatments are discreetly effective, but they slow down
the evolution of the disease.

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).