News
For the latest news stories and archived press releases linked with Pompe Disease and the latest reports on conferences and meetings.
Good Vibrations Update
26th April 2010
An interesting update to Kevin Annesley's Article describing his experiences of Whole Body Vibration (WBV).
Read it HERE
New UK LSD Collaborative Group Established
Representatives from UK Lysosomal Storage Disorder Patient Organisations have joined forces to create a strong lobbying and action group for LSD patients and their families in the UK.
The Group is made up of patient representatives from the Niemann-Pick Group (UK), the Gauchers Association, The Society for Mucopolysaccharide Diseases (the MPS Society), the Batten Disease Family Association, and the Association for Glycogen Storage Disease (UK).
The Group first met in January 2007 to discuss common issues, such as working with the pharmaceutical Industry, the development of homecare services for patients, new born screening, the development of metabolic networks in the UK, the need for research into the brain, and representation on the Health Technology Assessment longitudinal study into enzyme replacement therapy (ERT) for LSDs.
Further information can be found in the Group’s Newsletter
Influenza vaccinations and Pompe Disease
Erasmus Medical Centre, Rotterdam, the Netherlands. December 2009
As a guideline we recommend that all patients with Pompe disease are vaccinated against influenza. This applies both to the seasonal influenza as well as for the 2009 flu pandemic (influenza virus A/H1N1 – also called Swine flu, Hog flu, Pig flu or Mexican flu). It is especially important for patients with reduced lung function to be vaccinated because the H1N1 virus can cause increased breathing difficulties.
In order to maximise your body’s defences we advise Pompe patients to have their vaccinations, if possible, at least to 2 days before or at least 2 days after a Myozyme infusion.
Good Vibrations
7th August 2009
Article by Kevin Annesley describing his experiences of Whole Body Vibration (WBV).
Read it HERE
EMEA Approve 4000 litre Myozyme at Geel, Belgium
End to Global Tight Supply of Myozyme
3rd March 2009. Press release on the IPA website here
EMEA Releases Guidance to European Physicians
25th January 2009
On 16th January 2009 the European MEdicines Agency (EMEA) issued a letter to physicians explaining the tight supply of Myozyme. However one week beforehand Genzyme had issued guidance to all countries outside the EU with a clear indication of how physicians should manage the current temporary difficulties. Hopefully the initial confusion caused by these slightly differing messages has been resolved and EU patients have, together with their treating physicians, planned how they will work through the coming months.
From what I understand in the UK, very sensible measures are being adopted that will help to protect Myozyme inventory and ensure that the most vulnerable patients, especially infants and children, are maintained on their current levels of treatment.
The comminications from Genzyme and EMEA are posted on the IPA website here.
Pompe Disease Abstracts from the 58th Annual ASHG
Meeting, 2008
There are a number of papers presented at this meeting relating to Pompe Disease; I have extracted them from the ASHG Abstract Book into a small document which you can download here.
Topics featured are:
Pilot Newborn Screening Study for Pompe Disease in Taiwan involving 132,538 infants. Confirmation of 4 at-risk infants.
Placebo-Controlled Study of Alglucosidase Alfa in Adults with Pompe Disease (Genzyme LOTS)
Genetic testing of GAA: a prompt and reliable laboratory diagnosis of Pompe disease
The Pompe Registry: Tracking Pompe Disease Symptoms in a Broad Patient Population (Genzyme Pompe Registry)
Improved clinical outcome in a Pompe disease patient increased from 20 to 40 mg/kg Myozyme every 2 weeks
Pharmacological chaperone treatment for Pompe disease (Amicus Therapeutics)
An improved alpha-glucosidase enzyme for Pompe disease (BioMarin)
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Report on the Joint LSD Patient Meeting
Royal Free Hospital, London, UK
Luke Fraser recently attended the collaborative patient meeting for Lysosomal Storage Disorders. Read his comprehensive report here.
Aberdeen newspaper the Evening Express carried this report on 24th March 2008
Brave Paul gives hope to baby Sean
Sufferer diagnosed at 14
By Claire Brooks
Published: 24/03/2008
HE WAS told he wouldn't be able to walk by the time he was 19.
But, now at the age of 27, Paul Jupp has battled against all the odds and is winning his fight against life-threatening Pompe disease.
The news of Paul's determination to fight the illness comes as the parents of a critically-ill North-east baby pray their son pulls through from the same condition.
Eight-month-old Sean Tye is currently undergoing £50,000 specialist treatment in order to fight the devastating illness which affects the heart and muscles.
The Balmedie baby is undergoing treatment at Yorkhill Sick Children's hospital in Glasgow that could save his life.
And it's a treatment which Paul could need in the future should his condition, which is currently stable, deteriorates.
Step-dad Philip Burton said Paul is a determined young man. He said he fought hard to ensure he would not be wheelchair-bound before he hit the age of 20.
Philip said: "Doctors did not expect him to be able to walk past the age of around 19 but he is such a determined guy and started taking up weight building when he was about 18 or 19 to keep his strength up"
And now, almost 10 years on, he is still able to walk unaided.
Philip, 46, said: "He can't walk very far on his own, he can probably manage about a quarter of a mile before he begins to need help. But even although it isn't far, it's better than being immobile"
Paul, of Stonehaven, was diagnosed with Pompe's disease when he was 14 but Philip said it is something you are born with but can often take so long to diagnose because it is so rare.
He said: 'Because so few people actually have the disease it's not so easy to diagnose.
"If you're diagnosed very young, as a baby, then this special treatment is probably essential because it will help with survival"
Paul has been seeing a specialist in London for a number of years.
Philip said: "Because Paul's condition is not deteriorating at the moment the specialist said he would not want to take the risk of putting him onto the special treatment.
"However should his condition get worse it will be an option for the future"
At the moment Paul's condition remains stable as long as he sticks to his daily routine.
cbrooks@ajl.co.uk
Amicus Therapeutics Presents Data from Clinical Ex Vivo Response Study and Phase 1 Studies of AT2220
13th March 2008
Full press release here
Data Suggest Majority of Pompe Patients May Be Amenable to Chaperone Therapy
CRANBURY, N.J., March 13, 2008 /PRNewswire via COMTEX News Network/ -- Amicus Therapeutics, a biopharmaceutical company developing small-molecule, orally administered pharmacological chaperones for the treatment of human genetic diseases, announced today that the Company will present positive results from an ex vivo response study and three Phase 1 studies of AT2220 (1-deoxynojirimycin HCl), Amicus' compound in development for the treatment of Pompe disease, at the American College of Medical Genetics (ACMG) Annual Meeting from March 12-16 in Phoenix, AZ. The results of the ex vivo response study along with the previously reported results of the Phase 1 studies support moving into Phase 2 trials in the first half of 2008.
Ex Vivo Response Study data
Interim data will be presented from an ex vivo response study designed to test the effect of AT2220 on various Pompe mutations. Blood and skin samples were collected from 30 Pompe patients (26 adults, 3 juveniles and 1 infant) with a variety of different mutations in acid alpha-glucosidase (GAA), the target enzyme in Pompe disease. Cells derived from these samples were then tested to determine whether treatment with AT2220 caused an increase in the level of GAA. Of the 26 patients with available data, 24 had cells that showed a dose responsive increase in GAA levels, including 22 patients who had at least 1 copy of the common splice site mutation IVS1-13T>G. It has been reported that more than 80% of Caucasian adult Pompe patients have at least 1 copy of this common splicing mutation.
Baby Sean Tye
First Case of Commercial Myozyme in Scotland
March 1st 2008
This week has been a dreadful time for the Tye family from Aberdeen. Treatment looked certain on Monday but as little Sean's condition deteriorated, and after all the emergency procedures for prescribing Myozyme were complete, it was cruelly denied. This was both devastating and bizarre because funding had already been agreed by NHS Grampian, but as Sean was being cared for in Glasgow's Yorkhill Hospital, managers at NHS Greater Glasgow and Clyde would not sanction the treatment. That was despite all his treating physicians advocating Myozyme as a life-saving measure.
By Friday we were preparing for an Emergency High Court Review of the decision (to be heard on Monday) when the Medical Director finally caved in to pressure from Physicians, with a little help from Alex Salmond, Scotland's First Minister. Immediately after being given the news Sam Tye (dad) said that he was so relieved but that he didn't want the fight to stop here. He doesn't want other families to suffer a repeat of their experiences and won't be happy until the SMC ruling is overturned.
We wish Sean and the family our best wishes for a rapid return to health in the knowledge that he has now been given the very best chance for a good life ahead.
Below is the final piece from the media this week:
DOCTORS BATTLE TO SAVE BABY
CAUGHT UP IN ROW OVER DRUG
Source: Press & Journal, 1st March 2008
 Doctors were last night battling to save a baby boy's life after health bosses performed a U-turn and agreed to give him the treatment his parents pleaded for.
Eight-month-old Sean Tye was deteriorating by the minute and yesterday he had to be put on a ventilator.
Within hours of his plight being highlighted by the Press and Journal, First Minister Alex Salmond personally intervened in the case.
NHS Grampian then agreed to fund the use of the enzyme replacement drug Myozyme to combat Pompe disease, the muscle-wasting condition he suffers from.
NHS Greater Glasgow and Clyde agreed to give him the treatment at Glasgow's York-hill Hospital, where he is in the high dependency unit.
Speaking from his son's bedside, Sean's dad, Ching Shen Tye, 31, said: "I am pleased, but it is just the beginning. He is not doing very well. He is on a ventilator and will probably receive the enzyme therapy later tonight. But he is not out of danger."
Mr Tye and his wife Yafan Zhao, 32, who stay at Chapelwell Park in Balmedie, Aberdeenshire, thanked the Press and Journal for its role in helping their son get the treatment he needs.
It is understood that as Sean lay desperately ill yesterday, Yorkhill doctors were at odds with administrators, who were reluctant to give them permission to treat him with Myozyme because they feared setting a precedent.
But at around 3pm, the doctors won permission.
The dramatic turnaround followed the intervention of Mr Salmond, MSP for Gordon where the family live.
He wrote to Brian Cowan, director of medical services at Greater Glasgow and Clyde, on behalf of his constituents, appealing to Mr Cowan to hold an exceptional circumstances panel "as soon as possible" in light of the baby's worsening condition.
The first minister had already received an assurance from NHS Grampian that it would fund the £50,000 treatment - the first time a Scottish health board has agreed to do so.
The panel wanted assurance the treatment would benefit Sean - something his parents never doubted.
Specialist nurse Joan Fletcher (AGSD-UK Family Support Officer), from Royal Manchester Children's College, who participated in Myozyme drug trials in England, travelled to Glasgow yesterday to review Sean's condition.
She said she was "delighted" that the baby would now receive the drug.
"The doctor treating Sean is very relieved that the decision not to treat has been overturned," she said.
"Sean is not out of the woods yet, but it is a step in the right direction."
Mr Salmond said: "We are delighted for the family that on clinical grounds young Sean is able to receive the treatment required. I'd like to thank both health boards for working so quickly, given the urgency of the case.
"I'm sure all members of the community in the north-east of Scotland will be wishing Sean well, and his family will be in our thoughts."
Allan Muir, the UK Pompe disease patient representative and chairman of the International Pompe Association, said: "It's excellent news for the parents. He could certainly have done with it earlier, but let's hope he makes it through the weekend and starts to recover next week."
NHS Greater Glasgow and Clyde said: "Following a detailed review by senior clinical staff, it has been recommended that Myozyme should be prescribed in this individual case."
It is understood four other patients in Scotland, two of whom are children, are awaiting approval to be treated with Myozyme.
Dr Ken Paterson, of the Scottish Medicines Consortium (SMC), said: "Clearly it's possible for the health board to decide that even though the drug may not represent cost-effective use in the round, it is appropriate to treat and provide funding on an individual case."
Myozyme is not one of the SMC's approved drugs.
LOTS Trial Meets its Primary Endpoints
Genzyme Press Release
Date: December 13, 2007 Genzyme Corp. (Nasdaq: GENZ) announced today that its Late Onset Treatment Study (LOTS) of Myozyme (alglucosidase alfa) met its co-primary efficacy endpoints. The study was undertaken to evaluate the safety and efficacy of Myozyme in juvenile and adult patients with Pompe disease.
Full Press Release here
This is great news for Late-Onset patients around the globe as it is the strongest indication yet that Myozyme works for older people as well as infants. The regulatory authorities (EMEA, FDA, etc) still need to analyse the data in full, but this announcement gives us all great hope that the resistance from health providers will start to crumble and that adult patients in Wales and Scotland may be one step closer to benefitting from this therapy.
Family Support Officer Recruited for AGSD (UK)
September 2007
This is perhaps the most significant news for UK Pompe patients since Myozyme was approved by EMEA. It has taken considerably longer to organise than hoped, but we are very soon to have our first professional working on behalf of the charity.
Joan Fletcher has worked with Pompe patients since 2002 when she bacame the Senior Trial Coordinator at the Manchester trial centre for Myozyme, working with Dr Ed Wraith as the principal investigator. We expect Joan to start work in her new role from October 1st and details of how to contact her should appear on this website.
Joan will introduce herself at the AGSD (UK) Conference in Reading on 13th October, so please do come along and meet her.
Her work will be based at the Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, although she will travel the UK to meet patients at the NCG LSD Centre clinics. She will also be available to make a small number of home visits in exceptional cases.
Below is a touching story of a couple that would certainly have found a Family Support Officer extremely helpful in getting through years of coping with John's illness; Val and John Shaw have agreed to let me publish their recent letter to me. It also shows that the concerns that people may have expressed about the effectiveness of Myozyme in the more advanced stage of Pompe disease, are certainly not borne out in John's case.
John's Story
I thought I would let you know how John is doing after seventeen infusions. As you know for the first 26 years of John's illness we had no input from anyone. But for the last 3 years we have had Derek Bainbridge on our side and for the last year we have also had Mandy Bunclark and thankfully they do their best to help in anyway they can. Social services and Rotherham District Hospital (RDH) are lacking in a lot of ways, but now John is under The Hope Hospital at Salford, Manchester things are so much different. At Hope he has Dr. Waldeck, Dr. Mark Roberts and a Dr. Turkington who is a top chest man looking after him. They are all so very good and show such a lot of interest in John which he has never had before.
When John first started his infusions he was in a very bad way. Two years before the men who work in the BME department at RDH had said that the two old Radcliffe ventilators that John had been on for years were obsolete and they could not get any more spare parts for them. So they tried him on four different types of machines (at home) with me in charge after half an hour tuition and a CD to learn from. John could not get used to any of the machines as they were all so different to the old east Radcliffe, which you probably know had bellows and weights on the outside of the machine which just clanged up and down gushing the air into John's lungs at a pretty fast rate. Nobody had any idea of how much ventilation John had had over the 26 years as nobody had ever seen him to check on his ventilation or anything else; the outcome was that John's lung capacity is twice the normal size because of the over ventilation. With the new machine delivering the ventilation so differently from his old machines, John has not slept properly since. He is lucky if he gets a couple of 10 minutes every night. He has had sleep studies done at St. Thomas in London and they did not know why he was not sleeping. I am pleased to say that they all agree with me that it was the change over of the machine that started it off. It had to be that as it happened on the first night of the changeover.
As a consequence of this change of sleep pattern John deteriorated rapidly. He became very weak, went off his food, and became very low in spirit. He could not help himself much at all. He had a chest infection that led to Pneumonia and that took its toll. He went really downhill. He then had a fall which damaged his knee and he became really very dependant for everything. Gradually his knee got back to normal but he was so very weak that he never went out of the house for two years because he could not help me to get him out of the wheelchair as he did before, and to get him in the car was impossibility.
At this point I found out (through our own source) what was happening at Manchester and got a referral to see Dr. Waldeck and Dr. Roberts. They did muscle biopsy and skin tests on John to confirm that he had Pompe Disease, but Dr. Roberts said as soon as he saw John he knew he had Pompe's. The next time I saw Dr. Roberts was at the conference at Bradford. Mandy told Dr. Roberts how ill John was and Dr. Roberts said that John's muscle biopsy was the worst he had seen. John and I presumed that with this news about his muscles and his age it was more than likely that he would not be getting the treatment. However the following week we had an appointment at the Pompe clinic at the Hope Hospital.
I know that both Drs. Waldeck and Roberts were shocked to see how much John Had deteriorated. He had lost weight, he could not sit up properly without support, his voice was very weak and he could not hold a conversation longer than a couple of words. He also had to support his neck with his right arm as his muscles were so weak. John told Dr. Waldeck that this was the worst he had felt through the 28 years of this illness, and that he felt very low because he thought that he could not halt this deterioration and that he was just going to get worse. Dr. Waldeck was brilliant. He told John that they were going to help him as much as they could. They said they were going to admit him to Hope Hospital for a week to do several different tests and if they were all satisfactory they would give him his first infusion on the Tuesday of the week he was staying there. We just stared at him in disbelief. As I said earlier we thought we had little chance of him getting the treatment. We were elated.
And now, here we are seventeen infusions on and he is like a new man. Before he started the infusions he could only manage 6 hours out of every 24 off the ventilation. He was on 22 breaths a minute and we have just got him down to 16 breaths a minute and he is now off the ventilator 12 hours out of every 24, which is fantastic. He is back to walking (or waddling as the doctors call it) around the house, his eating has improved, he has put on weight and best of all, with a lot of effort from both of us, I can take him out in the car. I can manage to slide him into the car and when he gets out I lift while he pushes down and I rest him on the side of the car and he climbs up the door (it's not as hard as it sounds). The only problem we have got at the moment is when I take him in the car he has to stay in it till we come back home as we have not mastered the wheelchair bit. I can get him out of the car into the wheelchair but as yet I cannot get him out of the wheelchair into the car. But we are working on it and I am sure we will get there.
Three weeks ago we went for John's six months mini assessment and Drs. Waldeck and Roberts were very pleased with John's progress. Dr Waldeck said that 12 hours off the machine was amazing. He also said that John's voice was a lot stronger and that he was pleased he could have longer conversations. He was also surprised that John was not having to support his head had like he had been doing. Dr. Roberts did some muscle strength tests and said both of John's arm and leg muscles were stronger. He had John sit on the bed with his feet pointing upwards and said he was going to push john's foot down on to the bed. I was standing behind Dr. Roberts when he was trying to do this and he really was shaking with the effort. He then stood up with a smile on his face and said "you all know I am a big chap but I could not push it down. His leg there is normal". The muscles John has always been able to use are getting stronger all the time. The ones he lost the use of due to lack of physiotherapy and other reasons are not showing much improvement at the moment but we are not going to expect too much all at once. We are doing exercises on these muscles ourselves to try and work with the treatment. As far as we are concerned what John has achieved up to now is a miracle in itself and I am so pleased and proud that Dr. Waldeck says that John is their star patient. He pushes himself and does as much as he can to help himself and I know if anyone will benefit from this treatment it will be John. The change in him is remarkable. He is so much happier and wanting to try to do so much more than he has been able to for a long time.
We are even going on holiday!
Val and John Shaw
Page last modified on 19/01/2010
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