Fabry disease awareness month, April
The Fabry International Network (FIN) association 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 one of several dozen Lysosomal Storage Disorders that interfere with the body’s ability to break down specific fatty substances. It is a rare disease and because the rate of occurrence is less than 1 in 200,000, it is considered as one of the many “Orphan” diseases. It is more common in women, but it occurs with greater severity in men.
Fabry disease is a metabolic disease that is produced by a deficiency of the ysosomal enzyme Alpha galactosidase. It is transmitted on the X chromosome. Fabry affected patients are missing alpha-galactosidase A (alpha-gal A) which results in sugars and fatty acids (Gb3) accumulating in the cells throughout the body and impairs the function of several major organs including the kidneys and heart. In 2001, enzyme replacement therapy appeared when the alpha-galactosidase protein (alpha- and beta-agalsidase) was synthesized 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.
CIBER-BBN, partner of NANBIOSIS, leads the European project Smart4fabry funded by the Horizon 2020 program, which will be developed through a consortium formed by 14 partners from 5 different countries. The CIBER-BBN coordinates the project through the participation of four of its groups that coordinate four units of NANBIOSIS (U1.Protein Production Platform (PPP), U3. Synthesis of Peptides Unit, U6. Biomaterial Processing and Nanostructuring Unit and U20. In Vivo Experimental Platform.) In addition, the consortium is formed by the University of Aarhus (Denmark), Technion Israel Institute of Technology (Israel), Joanneum Research (Austria), Biopraxis Research AIE (Spain), the spin off Nanomol Technologies SL (Spain) ), BioNanoNet (Austria), Drug Development and Regulation SL (Spain), the Covance Laboratories LTD group (UK), and Leanbio SL (Spain) Smart-4-Fabry has been conceived and developed to obtain a new nanoformulation of GLA, that will improve the efficacy and toleration of the treatment with non-formulated GLA. The final benefit will be seen as a considerable reduction on the Fabry disease treatment cost and a substantial improvement in the life-quality of Fabry disease patients.
Fabry International Network, FIN was established in 2005, as a non-for-profit organization registered in The Netherlands. The primary aim of the project is to facilitate collaboration between patient organizations around the world to support those affected by Fabry disease
FIN is connected to over 45 countries around the world. Membership is free and open to any National Patient Organization in which Fabry patients are represented. The National Fabry Disease Foundation – USA, for April 2018 Fabry Disease Awareness Month, have been providing an educational or information post on their Facebook page, every day of the month in April. The NFDF also distributed their My Health Handbook kit and, so far, distributed about 700 kits to individuals with Fabry disease. Fabry Australia have a new website and they are also running a new social media campaign. Fabry Support & Informatie Groep Nederland, FSIGN, since 2005 has organized every first Saturday of April (in the Fabry Awareness Month April) to be the Fabry women’s day. Japan Fabry Disease Patients and Family Association, in awareness month JFA held an open seminar at Fukuoka University Medical hall with lectures on three major topics: Newborn Mass Screening, Current Treatments and Employment and Clinical Genomics. In Spain the Fabry patient organization are the Spanish Fabry MPS Association
The Fabry International Network will cellebrate the 6th Fabry Expert Meeting on
8th – 10th June 2018 at the Vilnius Grand Resort, Ežeraičių g. 2, Ežeraičių km., Avižienių sen., Vilniaus raj., LT-14200, Lietuva.
