triumph and tragedy

Show me a hero and I'll write you a tragedy. F Scott Fitzgerald.

Last week the FDA granted a rare Breakthrough Therapy designation to Alexion Pharmaceutical’s experimental drug, cPMP (cyclic pyranopterin monophosphate), an early-phase enzyme-replacement treatment that targets an exceedingly rare disorder. The fatal disorder, MoCD(molybdenum cofactor deficiency) Type A, leaves newborns with catastrophic and irreversible neurologic damage in the first weeks of life.

Breakthrough Therapy designation is intended to help patients with serious or life-threatening disease get much earlier access to drugs considered "breakthrough"– novel therapies that have already demonstrated outstanding results from early stage trials. Last week's approval was a major feather in the cap for US biopharma Alexion, which had acquired the drug for a $3 million upfront from German biotech Orthatec in early 2011.

Doubtlessly the FDA was impressed by the 2012 case report of an infant who was prenatally diagnosed with MoCD type A and started on treatment with cPMP just four hours after birth. After a brief period of seizures and cramped-synchronized movements on the first day, the baby showed no further clinical signs of neurologic deterioration.

This successful result mirrored that of a case that had been reported two years earlier in Melbourne. At the time, a 5 week old baby with MoCD became the first person to ever survive the disease after being administered cPMP. The hero scientist behind this breakthrough was Dr Rob Gianello who, after weeks of frantic searching, had managed to find a German research paper reporting successful results with cPMP in a mouse model. The paper was written by Professor Gunther Schwarz, who worked with the German Orthatec team.

Consequently, this week should have been one to savour for Dr Gianello, who played such an important role in the progression of life-saving cPMP. Instead, proceedings were issued against the disgraced scientist in Victoria’s Supreme Court for recovery of funds allegedly misappropriated from his employer, Phosphagenics.

(Not posted with intention to drag on the discussion, just thought this a tale worth telling... Thanks to JM and Teddyward for bringing this to my attention)