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Sodium/chlorine symport modulator for treating Down syndrome

​ Gene therapy​ Terapia genicaDown syndromeNKCC1 expression modulatorPharmaceutical composition


Despite the continuous work, no effective medical treatment to recover cognitive deficits in Down syndrome is still available. This invention refers to the recovery of learning and memory difficulties that characterize Down syndrome, in which gene therapy treatment is able to modulate intracellular levels of chloride at the neuronal level. Specifically, the expression of the cotranscarrier Na-K-Cl (NKCC1) is silenced by giving the subject an inhibitor of gene transcription, thus limiting the transport of chloride within the neuron.

Technical features

The NKCC1 inhibitor can be both an antisense oligonucleotide, and a ribozyme. They can be delivered in vivo alone or in association with a vector. Preferred vectors are adeno-viruses and adeno-associated viruses. Other vectors include plasmid vectors. In another embodiment, the invention inhibitor is an antibody (or aptamer) that can block the activity of a transporter involved in importing chloride into neurons. Still, in other forms of realization, the inhibitor of the invention may include isomers, tautomers, zwitterions, enantiomers, diastereomers, racemes or stereochemical mixtures of the same. The effective amount of a modulator varies from about 0.01 mg to about 500 mg. Once the effective amount of the NKCC1 modulator has been established, at which at least one pharmaceutical acceptable excipient must be added, the pharmaceutical composition to be used in the treatment of Down syndrome is thus obtained. TRL 4.

Possible Applications

  • Treatment of Down syndrome and all diseases of the nervous system characterized by a high concentration of ions Chloride in neurons, with the aim of improving the diagnostic symptoms
  • Possible combination with other therapies such as speech therapy, behavioral therapy, sensory integration therapy, personalized educational plans for Down syndrome and other drug therapies for all other diseases of the central nervous system


  • Specificity of treatment in comparison to small molecules
  • Ability to inhibit the target for very long periods in time with a single administration
  • Absence of diuresis as a common side effect in drugs (small molecules) inhibiting NKCC1