I, for one, am really enjoying this blog from Frank! He absolutely gets what this is about! I hope John Key reads this and is totally disgusted in his treatment of us with Pompe disease in New Zealand. He should be ashamed of himself! Do you think if any of John Key's family were diagnosed with Pompe disease that he would want the same treatment for them that he has dished out to us? ~ Allyson
This is a particularly annoying response from a bioethics professor who clearly is not up with the play on the treatment of Pompe. It would appear in fact that he was well briefed by Pharmac. The relevant part starts at 16.50 from the start.
The Government’s refusal to explain why it has not delivered on a promise to ensure access to life-saving drugs for Kiwis suffering from rare diseases is cowardly and disrespectful Labour’s Health spokesperson Grant Robertson says.
An Invercargill equipment repairman with a rare neuromuscular disease was one of five people turned away from the Beehive yesterday, after seeking an intervention from John Key to get access to the drug Myozyme, which could halt the progression of the fatal disease.
The 49-year-old New Plymouth man has a rare medical condition and without an expensive treatment – which Pharmac says will cost almost $1 million a year and may not even work – he believes he is being sentenced to an early death.
Radio New Zealand: National: Checkpoint Jun 7, 2011
People with rare, genetically inherited disorders are demanding a better deal from the drug-buying agency Pharmac.
Radio New Zealand: National: NINE TO NOON ~ Allyson Jun 7, 2011
Pharmac Medical Director Dr Peter Moodie, Executive Director of NZ Organisation for Rare Disorders John Forman and Pompe Disease sufferer Allyson Lock all join the programme to discuss the funding agency's decisions and decision making processes.
Three patient advocacy groups have won a concession from Pharmac who will consider at their 27 September board meeting an appeal against their earlier decision to decline funding for Myozyme, a specialised enzyme replacement therapy. Myozyme treats Pompe disease, a rare Lysosomal disease that has similar symptoms to some forms of muscular dystrophy. Without treatment Pompe disease is fatal, leading over several years to increased muscle weakness and respiratory failure.
Amicus Therapeutics' experimental drug AT2220 has enhanced enzyme replacement therapy in a phase 2 trial in Pompe disease and is slated for further development. Article Highlights:
Enzyme replacement therapy (ERT) for Pompe disease can treat the disorder, but its effectiveness is limited by a tendency of the replacement enzyme to "unfold" in the bloodstream, changing its activity. ERT also can elicit an unwanted response from the immune system.
A phase 2 trial of oral AT2220 showed the drug safely increases the activity of the replacement enzyme in muscle tissue.
MDA is supporting Eric Sjoberg at Amicus to investigate the ability of AT2220 to reduce an unwanted immune response to ERT; so far, it seems to do this.
Amicus Therapeutics is planning a trial of a new intravenous formulation of AT2220 in the third quarter of 2013 and is simultaneously developing a next-generation ERT for Pompe.
A Feb. 15, 2013, conference call and slide presentation about AT2220 are available on the Amicus website until March 16, 2013.
The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children voted 11-0 on May 17th 2012 to add Hurler’s Syndrome (MPS 1) and Pompe Disease to the recommended list of diseases to be included in the core panel for screened diseases. Although, newborn screening programs fall under state control, many states place a high emphasis on the recommendations of the Federal Advisory Committee. California is one of those states. The recommendation of two lysosomal storage diseases (LSDs) by the Federal Advisory Committee is great news and should help facilitate the expansion of newborn screening programs to include LSDs nationwide.
The NeuRx Diaphragm Pacing System, a device that may forestall the need for invasive ventilation, has been approved by the FDA for ALS.
Note: FOUR of our Pompe family have been fitted with one of these devices. 2 adults and 2 children. They are doing well!
Brad Flies Out To Stay Alive Mar 17, 2011 BRAD Gibson will leave for Florida tomorrow to take part in a new pharmaceutical trial for a medication to treat the rare genetic disease that is slowly killing him.
Sanofi plans autonomy for part of Genzyme business Mar 2, 2011 French drugmaker Sanofi-Aventis SA plans to give Genzyme Corp.'s orphan drug business, which focuses on rare diseases, some autonomy once it completes its $20.1 billion acquisition of the specialty drugmaker...