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​ Terapia genicaAtrofia Muscolare Spinalegene therapySpinal muscular atrophy


The invention relates to modified human snRNA molecules suitable for use in gene therapy procedures or alternatively with complementary action to the former. In particular, the invention relates to snRNA molecules capable of correcting aberrant splicing processes caused by gene mutations and correlated with the increasing number of human diseases associated with different clinical pictures, often of intense severity.

Technical features

The invention allows to increase the number of SMN2 transcripts including exon 7 thus ensuring a compensatory therapy for the lack of the SMN1 gene thanks to the correct expression of SMN2 pseudogene, with consequent notable positive implications for the effective treatment of SMA. In particular, the invention relates to the ability of modified U1snRNA molecules to restore the correct splicing of pre-mRNAs with a greater selectivity of action on the transcript of the target gene of therapeutic interest with respect to the prior art. A further object of the invention is an isolated gene coding for the modified human U1snRNA molecule of the invention. Yet another object of the invention is an expression vector comprising an isolated gene as defined above.

Possible Applications

  • Gene therapy;
  • Spinal muscular atrophy treatment;
  • Familial Dysautonomia;
  • Hemophilia treatment B;
  • Cystic fibrosis treatment.


  • Specificity of the action of the therapeutic snRNA molecule towards the target gene;
  • In vivo trials have shown a remarkable therapeutic efficacy in terms of neuromuscular function and survival;
  • Complementarity with gene therapy;
  • Applicability to different population targets.