Diagnosis -
Diagnosing Pompe Disease has become much simpler than it used to be.
Professor John J Hopwood and his team, from the Lysosomal Diseases Research Unit, at the Women's and Children's Hospital, in Adelaide, Australia, have developed a diagnostic test that uses a dried blood spot rather than a muscle biopsy. The new method uses a drop of blood - collected from a finger prick - and dried on a paper card. This card can then be posted to the diagnostic laboratory.
Thanks to the above, painful muscle biopsies will no longer be necessary for diagnosing most new patients.
In recognition of his invaluable work for Pompe and other lysosomal storage diseases, Professor Hopwood was awarded an AM (Australian Member) in the 2004 Australia Day honours list.
Treatment -
Thanks to the dedication and commitment of University-based Scientists in the
Netherlands, America and Australia, who did the hard work of research into
Pompe's Disease and a possible treatment, and thanks to the Genzyme Corporation, the American drug company which specializes in manufacturing drugs for rare diseases, the time has finally come where a treatment for Pompe’s Disease has become available to the patients.
The treatment comes in the form of an Enzyme Replacement Therapy, where Genzyme’s Myozyme is administered by infusion into the patient’s blood stream.
It has taken many years and many millions of dollars for research, developing and manufacturing to reach this point.
A special thanks must also go to those amazing people who have - and still do - put so much time and work, and so much personal effort and commitment, into helping to make treatment become a reality for all Pompe’s patients.
A very big “Thank You” to you!
AUSTRALIAN TGA APPROVES MYOZYME
On Friday, 14th March 2008, Myozyme received marketing approval from the Australian Therapeutic Goods Administration (TGA), for the long-term treatment of patients with a confirmed diagnosis of Pompe disease (acid alfa-glucosidase deficiency).
As the TGA has now granted approval, the Australian Pompe's Association will apply for funding from the Australian Federal Government, to finance this Enzyme Replacement Therapy.
It is in every Pompe’s patient’s best interests to help, by making our community, politicians and decision-makers aware of the awful, debilitating, disabling and fatal effects that are suffered by Pompe’s patients, and of the fact that a safe and effective treatment is now available.
