• Fri. Jan 21st, 2022

Social ‘treasure hunt’ on lysosomal storage diseases


May 7, 2021

A ‘digital treasure hunt’ that will put influencers and users on the trail of three rare lysosomal storage diseases. Because rarity can become a strength, greater knowledge can aid diagnosis and treatment, and the lack of information is a challenge to be overcome together. The campaign ‘Rare who finds – Together on the trail of Fabry, Gaucher and Hunter syndrome’, promoted by Takeda Italia with the patronage of the Italian Society of Pediatrics (Sip), the Italian Association Anderson Fabry onlus (Aiaf ), The Italian association Gaucher onlus (Aig) and the Italian association mucopolysaccharidosis and related diseases (Aimps), which is presented to coincide with the Mps Awareness Day on the awareness of Mucopolysaccharidosis, which is celebrated on May 15 all over the world. From today and in the next 45 days – a note details – 9 influencers of the network will invite their followers to find information and clues on these diseases scattered and hidden in posts and stories published on their social profiles. The clues will be revealed at the end of each stage of the hunt by the influencers themselves on their Instagram profiles and on the campaign site Rarochitrova.it, which will host the ‘competition map’. At the end of the treasure hunt, the fastest user will be able to load all the clues collected on the site. The aim of the campaign is to disseminate knowledge on Gaucher disease, Fabry disease and Hunter syndrome, or Mucopolysaccharidosis type II, the three most important of the more than 50 lysosomal storage diseases, chronic diseases of genetic origin that occur in the very first years of life. At the origin there is a defect or absence of one of the enzymes contained in the lysosomes, vesicles present inside the cell and considered as “recycling centers” of waste substances (macromolecules). “Lysosomal storage diseases are metabolic pathologies due to a defect in proteins with enzymatic activity that degrade large molecules of mucopolysaccharides and which, not working, cause the accumulation in the cell of these substances that become toxic and lead to cell death”, says Maurizio. Scarpa, Director of the Coordination Center for Rare Diseases, Friuli Centrale Health Authority. “They are genetic diseases, inherited as autosomal recessive from two parents with healthy carriers, with the exception of Fabry disease and Hunter syndrome that are inherited from the mother (X-linked). It is not easy to know the actual prevalence of these diseases,” due to the lack of specific registers and the still very frequent delays in diagnosis “, he stresses. The diagnostic delay compromises the therapeutic intervention which, today, thanks to scientific research, has numerous and effective options available that can mitigate the symptoms and improve the prognosis. The cornerstone of the therapeutic approach – reads the note – is enzyme replacement therapy, which consists in inserting the missing or deficient enzyme that arrives in the lysosomes and disposes of the accumulation of macromolecules. Other therapeutic approaches are for Gaucher disease the substrate inhibitors that act upstream of the accumulation and for Fabry disease the so-called ‘chaperonic’ therapy with small molecules that make the defective enzyme work better. For Hunter syndrome, in which enzyme replacement therapy does not cross the blood-brain barrier and does not reach the central nervous system, research is experimenting with other modes of administration. The therapies are available throughout the country and do not require hospitalization but can be performed on an outpatient or day hospital basis. In some Italian regions there is a home care service reserved for stable patients. “Our commitment alongside people with rare lysosomal storage diseases and their families unfolds along two distinct but parallel paths – says Alfonso Gentile, Medical & Regulatory Director Takeda Italy – Takeda has in its portfolio more than 40 products that represent approaches effective therapeutics in various therapeutic areas. Two thirds of the pipeline is represented by drugs for the treatment of rare or very rare diseases “. “In the field of lysosomal storage diseases – continues – Takeda, present for many years with enzyme replacement therapy, for Hunter Syndrome is experimenting with a new formulation for the intrathecal administration in pediatric age of a therapy that could represent an excellent alternative for these patients. We also support independent programs to inform and educate specialists who do not deal directly with these diseases, to refer patients more quickly to their specialized colleagues in order to obtain a faster diagnosis and adequate therapy. ” “Takeda also intervenes through support programs for patients and their families, which had a particular intensity during the pandemic period and especially during the lockdown last spring, but which were largely already active before the pandemic. of home support, both psychological and operational “, he concludes.