Jesse, who was eighteen years old, was participating in a phase I safety study of a gene transfer therapy for ornithine transcarbamylase deficiency
(OTCD), a rare metabolic condition.
He was suffering from a potentially fatal disease known as ornithine transcarbamylase deficiency
(OTD), which prevents the liver from breaking down protein.
The fact that carriers for various metabolic diseases such as early vascular disease in homocystinuria, hyperammonemic episodes in ornithine transcarbamylase deficiency
, presenile cataracts in galactosemia, and so forth (Endres 1997), as well as for AAT deficiency (Feld 1989; Gourley et al.
On September 17, 1999, four days after receiving a gene therapy infusion at the University of Pennsylvania, a young man from Arizona who had a genetic disease known as Ornithine Transcarbamylase Deficiency
Gelsinger, who died on September 17, suffered a fatal immune reaction while participating in a study of the safety of a treatment for ornithine transcarbamylase deficiency
, a hereditary liver disorder that, in Gelsinger's case, was not life-threatening and was controlled with medication.
Richard was struck down by an undiagnosed metabolic disease, known as Late Onset Ornithine Transcarbamylase Deficiency
In a mouse model of Ornithine TransCarbamylase deficiency
, a monogenic urea cycle disease that results in the accumulation of ammonia in the blood, ssAAV8-OTC in combination with ImmTOR was shown to effectively restore the physiological levels of urinary orotic acid and serum ammonia, correcting disease.