According to the company, PRX-OTC is an intracellular enzyme replacement therapy (i-ERT) designed to replace the missing or defective enzyme inside the cells of patients with OTCD
. PRX-OTC has shown therapeutic potential in a preclinical model of OTCD
, including lowering of blood ammonia and survival of 100% of treated mice.
We have further optimized this derivatization method to quantify glutamine in dried blood spots from newborns and in plasma to monitor OTCD patients on treatment.
To determine whether a diagnosis of OTCD can be made in archived blood spots, we evaluated the stability of glutamine over time.
We also measured glutamine in freshly collected plasma samples (n = 36) referred to our laboratory for amino acid analysis and including some from OTCD patients on treatment.
It is doubtful that the incidence of OTCD justifies a separate newborn dried blood spot screen for glutamine with this method.
This is the case even in archived OTCD dried blood spots that initially contained much higher newborn glutamine concentrations.
It is a superior alternative to the use of an amino acid analyzer to monitor OTCD patients on treatment.
Pero en Septiembre del ano pasado, en el Instituto de Terapia Genica de la Universidad de Pensilvania, el joven Jesse Gelsinger, que padecia de OTCD
, murio cuatro dias despues de haber recibido terapia genica, probablemente porque su aparato inmunologico fue demolido por el adenovirus modificado, ya que sufrio insuficiencia respiratoria aguda y falla organica multiple.