An Australian baby has become the first person to be cured of a rare and often fatal brain-poisoning condition thanks to an experimental treatment tested only on mice, doctors said yesterday.
The child, known only as “Baby Z,” was born with molybdenum cofactor deficiency, a genetic condition in which a build-up of toxic sulphite causes fits and brain damage, typically killing victims within a few months of birth.
“This is a first life-saving treatment for this fatal disease with global implications,” said neo-natologist Alex Veldman, calling it a “special first-time cure.”
PHOTO: EPA
Veldman said Baby Z started having seizures within 60 hours of her birth in May last year, prompting her family to appeal to a biochemist to help treat the previously incurable condition.
The chemist, Rob Gianello, discovered an experimental drug which had been successfully used on mice by a German doctor, Gunther Schwarz, but had never been tested on humans.
As Schwarz couriered his entire stock of the compound from Cologne to Melbourne, doctors were in a race against time to get ethics approval from the hospital and a court order clearing its use, with Baby Z worsening by the hour.
“The team ... managed to get this therapy from bench to bedside in about two weeks, a process which normally takes several years,” Veldman said.
Within hours of receiving her first dose of the drug, cyclic pyranopterin monophosphate (cPMP), Baby Z’s sulphite levels plunged by more than two-thirds, and were at normal levels within about three days.
“A few days after starting the patient on cPMP, the baby’s level of alertness improved significantly and the twitching and startling reactions decreased,” Veldman said.
“A [scan] performed three weeks after start of cPMP substitution showed a 90 percent reduction of seizure activity if compared to ... prior to treatment,” he said.
The baby’s neurological development is delayed due to brain damage suffered in the month before she received treatment, but her mother said she had now started speaking and was physically active.
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