The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency EMA has recommended the marketing authorization (Aic) for eladocagene exuparvovec, the first gene therapy – administered directly to the brain – against rare disease. aromatic L-amino acid decarboxylase (Aadc). This was announced by the American Ptc Therapeutics, underlining that this is the first treatment capable of modifying the course of the disease. It is a one-time gene replacement therapy that corrects the genetic defect underlying the disorder, and is recommended for patients over 18 months of age.
“The positive opinion of the CHMP makes available a one-off gene therapy for patients living with this devastating disease – declares Riccardo Ena, Country Manager Italy of Ptc – It is a testimony of our determination to use the most advanced science, to promote innovative therapies for pathologies whose needs are still unsatisfied “. Indeed, Eladocagene exuparvovec “can change lives,” says Paul Wuh-Liang Hwu, lead researcher at National Taiwan University Hospital. “Aadc deficiency is a devastating neurological disorder, in the absence of effective treatment – underlines Vincenzo Leuzzi, full professor of Child Neuropsychiatry at the University of Rome La Sapienza, head of the UOC of Child Neuropsychiatry at the Department of Human Neuroscience of the Polyclinic Umberto I of Rome – Before the therapy, affected children could not even lift their heads, but now many can sit down, stand up if helped, eat alone, and some can even walk and talk “.
The opinion of the CHMP – explains a note – is based on the results of clinical studies conducted in Taiwan. Furthermore, data on compassionate use of the treatment in patients in Europe were included in the application. In clinical trials, patients have gone “from the absence of any motor stage of development to developing clinically meaningful motor skills, including head control, sitting and standing, as early as 3 months following treatment, with rapid improvements, with continuous progress, up to 9 years after treatment “. It was also observed “an improvement in cognitive and communication skills in all patients treated”. The European Commission should ratify the MA in exceptional circumstances within approximately 2 months. The decision will apply to all 27 EU Member States, as well as Iceland, Norway and Liechtenstein.
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