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 leverages this idea ‘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 of mucopolysaccharidosis and related diseases (Aimps), which is presented in coinciding with the MPS Awareness Day on the awareness of Mucopolysaccharidosis, which is celebrated on May 15th all over the world.
From today and in the next 45 days – details a note – 9 network influencers will invite their followers to find information and clues about 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’. The winner will be the fastest user to upload all the clues collected to the site at the end of the treasure hunt.
The aim of the campaign is to spread knowledge about 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, by not working, cause the accumulation in the cell of these substances that become toxic and lead to cell death”, he 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.
Diagnostic delay compromises therapeutic intervention which, today, thanks to scientific research, has numerous and effective options available that can mitigate symptoms and improve prognosis. The architrave of the therapeutic approach – reads the note – is the 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 substrate inhibitors which act upstream of the accumulation and for Fabry la disease 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 – he declares Alfonso Gentile, Medical & Regulatory Director Takeda Italia – Takeda has more than 40 products in its portfolio representing effective therapeutic approaches in different 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. home support programs, both psychological and operational“, conclude.