Melbourne: 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 today.
The child, known only as "Baby Z", was born with
molybdenum co-factor 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".
Veldman said Baby Z started having seizures within 60
hours of her birth in May 2008, 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.
Bureau Report