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Ena (Ptc Therapeutics): “I will soon use the first gene therapy for Aadc”

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“By the summer, Umberto I in Rome could be treated in Italy with eladocagene exuparvovec – the first one-off gene therapy, administered directly to the brain – the first child with aromatic L-amino acid decarboxylase (Aadc) deficiency, a disease neurological rare devastating “. This was declared by Riccardo Ena, Country Manager of Ptc Therapeutics Italia. The company produces gene replacement therapy that corrects the genetic defect underlying the neurometabolic disorder, recommended for patients over 18 months of age, who received a positive marketing opinion from the Committee for Medicinal Products for use. Human (CHMP) of the European Medicines Agency (EMA). The life of these children, and of their families, changes radically, after the treatment which is decisive. In clinical trials, patients have passed “from the absence of any motor stage of development – explains the manager – to develop clinically significant motor skills, including head control, sitting and standing, from the first months following treatment, with rapid improvements, with continuous progress, up to 9 years after treatment “. It is the” first gene therapy drug for AADC, a very rare disease – it is estimated that one case in every million new borns – and the first drug of this type to be administered through the brain, in vivo, where it is able to generate a genetic modification by restoring the deficiency of the enzyme decarboxylase of aromatic L-amino acids, which presides over the synthesis of neurotransmitters and therefore neurometabolic development “, emphasizes Ena. Children who, due to a genetic problem, are born without the information for this enzyme, thanks to the therapy administered early, introduce the gene into the system to correct the error and produce the missing protein. The young patients “thus resume normal neurological development and obtain the restoration of its functions”, adds the manager. “By the summer, at the Umberto I in Rome, he could be treated in Italy with eladocagene exuparvovec – the first one-off gene therapy, administered directly to the brain – the first child with Aromatic L-Amino Acid Decarboxylase (Aadc) Deficiency, a rare devastating neurological disease. ” This was declared by Riccardo Ena, Country Manager of Ptc Therapeutics Italia. The company produces gene replacement therapy that corrects the genetic defect underlying the neurometabolic disorder, recommended for patients over 18 months of age, who received a positive marketing opinion from the Committee for Medicinal Products for use. Human (CHMP) of the European Medicines Agency (EMA). The life of these children, and of their families, changes radically, after the treatment which is decisive. In clinical trials, patients have passed “from the absence of any motor stage of development – explains the manager – to develop clinically significant motor skills, including head control, sitting and standing, from the first months following treatment, with rapid improvements, with continuous progress, up to 9 years after treatment “. It is the” first gene therapy drug for AADC, a very rare disease – it is estimated that one case in every million new borns – and the first drug of this type to be administered through the brain, in vivo, where it is able to generate a genetic modification by restoring the deficiency of the enzyme decarboxylase of aromatic L-amino acids, which presides over the synthesis of neurotransmitters and therefore neurometabolic development “, emphasizes Ena. Children who, due to a genetic problem, are born without the information for this enzyme, thanks to the therapy administered early, introduce the gene into the system to correct the error and produce the missing protein. The young patients “thus resume normal neurological development and obtain the restoration of its functions”, adds the manager.

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