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Share4Rare will pilot the methodology of collective intelligence in order to generate new scientific knowledge in the field of rare diseases. For this purpose, two pilot groups of conditions will be considered: rare tumours and neuromuscular disorders. With the aim to test and improve the tools that will collect clinical data from patients and parents, during the period of 2019 and 2020 we will study the following conditions:

Paediatric rare tumours

  • Gliomatosis Cerebri (GC)
  • Giant Congenital Melanocytic Nevus (GCMN)
  • Xeroderma Pigmentosum (XP)
  • Rare tumours of the pancreas
    • Pancreatoblastoma
    • Neuroendocrine pancreatic tumour
    • Solid pseudopapillar neoplasm of the pancreas
  • Myofibromatosis
  • Superficial and deep or desmoid fibromatosis
  • Inflammatory myofibroblastic tumour
  • Valvulopathies
    • PI3K related overgrowth syndrome (PROS)
      • Proteus syndrome
    • Parkes-Weber syndrome
    • Sturge-Weber syndrome


Neuromuscular disorders

  • Dystrophies and Myopathies
    • Duchenne MD
    • Becker MD
    • Limg Girdle MD (LGMD)
    • Fascioscapulohumeral MD (FSHD)
    • Myotonic Dystrophy (DM1 and DM2)
    • Congenital Muscular Dystrophies (CMD)
    • Congenital Myopathies
  • Spinal Muscular Atrophy (SMA)
  • Amyotrophic Lateral Sclerosis (ALS)
  • Peripheral Neuropathies (CMTD)
  • Congenital Myasthenias

If you are interested to contribute as a patient, parent, caregiver or legal guardian in the different research initiatives, please contact us by email: info@share4rare.org