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Farmaci orfaniGenetic mutationsmalattie ultra-raremutazioni geneticheorphan drugsSOCETechShareDay-d1w3Ultra-rare diseases


The patent describes a class of molecules acting as modulators of SOCE (Store-Operated Calcium Entry) that are suitable for the treatment of rare diseases, such as Stormorken syndrome, York and myopathy with tubular aggregates (TAM). The molecules are all structurally new and the patent claims both the pharmaceutical class and their application in the context of all pathologies caused by a hyper-activation of SOCE. Their effectiveness has been studied and demonstrated in murine TAM models.

Technical features

Currently, there are no available treatments or known clinical trials in place to target SOCE hyper-activation and consequent calcium overload, a consequence of rare diseases such as tubular aggregate myopathy (TAM), Stormorken syndrome and York platelet syndrome. The patent proposes a family of modulators based on a Markush formula characterized by a biphenyl structure, to which 40 molecules currently belong. The pharmacological characterization of the molecules and their application in a mouse model representative of the three rare diseases have demonstrated efficacy in regulating the SOCE mechanism. Preclinical studies and good laboratory practices (GLP) are currently underway on the lead compound.

Possible Applications

  • TAM, Stormorken syndrome and York platelet syndrome, three ultra rare genetic diseases involving loss of motor capacity;
  • Acute pancreatitis, inflammatory event, rare, affecting the pancreas, potentially lethal;
  • Other rare diseases characterized by a calcium overload.


  • Ability to bring intracellular calcium from abnormal to physiological levels;
  • Absence of cytotoxicity at effective concentrations;
  • Good metabolic stability in vivo;
  • High synthetic feasibility;
  • High tolerance in vivo.