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The Fabry International Network (FIN) association has established the month of April as the "month of Fabry" to raise awareness and educate about this disease, a rare, progressive and with multi-organ involvement pathology.
Fabry disease is a metabolic disease that is produced by a deficiency of the Lysosomal enzyme Alpha galactosidase. It is transmitted on the X chromosome. It is more common in women, but it occurs with greater severity in men.
As Dr. Guillem Pintos, Clinical Director of Minority Diseases at Vall d'Hebron explains, "Fabry disease is progressively affecting several organs and tissues: mainly heart and kidney, but also the skin, ear and nervous system". Thus, the typical manifestations are renal (chronic kidney disease) and cardiac (increased heart volume); peripheral nervous system, with pain crises and acroparestesias that affect the acras (hands and feet); central nervous system involvement in the form of strokes (ictus) which, when it occurs before the age of 50 without a specific cause, would be a warning sign of possible Fabry disease; the appearance of angiokeratomas located in the abdominal waist, genital area and buttocks; low sweating and low heat tolerance; as well as gastrointestinal manifestations generally in the form of abdominal pain and diarrhoea.
In 2001, enzyme replacement therapy appeared when the alpha-galactosidase protein (alpha- and beta-agalsidase) was synthesised in the laboratory using genetic engineering techniques. This treatment is injected into patients every 15 days to replenish the deficit levels of this enzyme and stop the progression of the disease.
Vall d'Hebron is a reference centre for metabolic diseases and offers multidisciplinary care to patients with Fabry disease.
Research into Fabry disease
The research group Drug Delivery and Targeting of CIBBIM-Nanomedicine at VHIR is immersed in the Smart4Fabry project to improve the treatment of patients with Fabry disease.
Dr. Ibane Abasolo team tries to get the conduction of the drug by means of liposomes, which would avoid that patients must go to the hospital every two weeks to receive treatment.
In addition, "it propose to protect the enzyme by means of liposomes, and to make it reach more effectively the organs and tissues that are particularly sensitive to the lack of alpha-galactosidase A. We are working with the possibility of crossing the blood-brain barrier, which is crucial in the treatment of lysosomal diseases and could benefit other rare diseases with neurological involvement," explains Dr. Abasolo, principal investigator of the CIBBIM-Nanomedicine Pharmacological Targeting and Release group and of the Smart4Fabry project.
The European Smart4Fabry project consortium is made up of 14 research groups and companies from the pharmaceutical sector and intends to carry out the necessary pre-clinical tests to facilitate the entry into clinical trials of nanoformulation (lysosomes) with the enzyme. They have an allocation of 5.8 million euros from the European Commission's Horizon 2020 Programme.
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