Allyson's Report on the AMDA Patient/Scientific Conference 2011
Place: San Antonio, Texas
Date: October 7-9, 2011
On the weekend of October 7-9 2011 I had the pleasure of attending the Patient and Scientific Conference hosted by the Acid Maltase Deficiency Association (AMDA) and the International Pompe Association (IPA) in San Antonio, Texas. I was funded by the IPA to attend, so I must give my thanks and appreciation to the IPA. It was a wonderful experience and being able to learn of the new advances in treatments, and to meet other Pompe patients was fabulous.
The New Zealand Pompe Network (NZPN) is now a full member of the IPA which helps give us a voice in the international world of Pompe disease.
This article contains part personal opinion and experience, plus excerpts from the Conference Agenda. I don’t want to plagiarise the whole agenda, so I have taken excerpts from it.
To start off the conference we were treated to an afternoon at Sea World on Friday, followed by a welcome dinner at Sea World that evening. It was a great way to start off meeting everyone in a fun and relaxed environment.
The Master of Ceremonies for the conference was Dr Arnold Reuser, Ph.D. Erasmus University Medical Centre, Department of Clinical Genetics, Rotterdam, the Netherlands.
The list of topics covered were:
What is Pompe? Presented by Paul Plotz, M.D.
History of Pompe; presented by Kevin O’Donnell, Ph.D.
Dr O’Donell is based in Edinburgh, Scotland. Although he is a professional scientist, his interest in Pompe disease is personal; he and his wife lost their first child to the disease in 1993.
This presentation summarised the history of the development of enzyme replacement therapy (ERT) for Pompe disease. Pompe disease was discovered 80 years ago by J C Pompe. Improved understanding of the nature of Pompe disease led to the search for treatment, which has so far led us to ERT. The scientific and industrial development of ERT is intertwined with another story, that of the growth of an international Pompe community. These things together have formed a group of patients, scientists and industry working towards a common goal. Understanding the past, what went wrong and what went right, will ensure a better understanding of the present, and better planning for our future. This is what is known as the “Pompe Model”.
Enzyme Replacement Therapy & IPA/Erasmus Survey presented by Deniz Gungor, M.D., MSc
In 2002, Erasmus MC and the International Pompe Association (IPA), the worldwide federation of patient groups, started an international study (the IPA/Erasmus MC Pompe Survey) in children and adults with Pompe disease by means of self-report questionnaires in order to improve the understanding of the natural course of Pompe disease, the impact of the disease on daily life of patients and the effects of innovative therapies. Since the start of the study, patients completed questionnaires on an annual basis. At this moment, more than 300 Pompe patients have participated in the survey through the IPA-affiliated patient organisations in the United States, the United Kingdom, the Netherlands, Germany, France, Canada, Australia and New Zealand.
Recent studies have focused on the impact of Pompe disease on the life expectancy of (adult) patients. So far, data on life expectancy were available for infants but not for adults. Information on life expectancy have become increasingly important since reimbursement agencies are requesting this type of information for decision making.
Pharmac and PTAC are also awaiting the newest information out of Erasmus…
Industry updates from BioMarin, Genzyme and Amicus
Respiratory issues, Swallowing, Disphagia and Lingual Weakness in Pompe
Newborn screening: Taiwan’s experience; Presented by Y-T Chen
Early diagnoses and early intervention has been proven to be of benefit to patients and increases the chance to achieve maximum therapeutic effect. The best way to speed up diagnoses is universal newborn screening. “Pompe disease has a broad clinical spectrum and newborn screening will probably not just identify patients who will develop symptoms within a few months after birth, but also persons who will develop symptoms at a later age”. A large scale newborn screening pilot program was conducted in Taiwan from October 2005 to March 2008. The screening involved measuring GAA activity in dried blood spots in approximately 45% of newborns in Taiwan. The unscreened population was monitored as a control group. After this study, all newborns in Taiwan received GAA screening on a voluntary basis.
The incidence of all types of Pompe disease detected by the newborn screening program was approximately 1 in 18,108. 6 newborns were classified as having infantile-onset Pompe disease and were treated within a week after diagnoses. They all demonstrated normalisation of cardiac size and muscle pathology with normal physical growth and age-appropriate gains in motor development.
Although the general awareness of Pompe disease is typically increased through activities of patient organisations there are still diagnostic delays caused by unawareness due to rarity of the disease. Newborn screening reduces the role of physicians in the diagnostic process as the screening identifies the disease before the onset of clinical symptoms. Newborn screening changes the role of the physicians from being professionals that are able to recognise the clinical symptoms and to order correct testing, to professionals that are able to translate findings and subsequently initiate a timely intervention. Clearly this is critical in Pompe disease where the earliest interventions will provide the best outcome from treatment.
~It is interesting to note that the PBAC in NZ has decided that no infants or adults will be funded for ERT in New Zealand for Pompe disease. This leads me to wonder if newborn screening will be instituted in NZ. If not, this will be yet another example of how far behind the rest of the world New Zealand is in regards to the health and welfare of Pompe patients.
~AMDA have just announced that NBS is one step closer to being added to the federal newborn screening program.
The Role of Antibodies presented by Priya Kishnani, M.D.
Dr Kishnani is the Chair of the North American Pompe Registry Board and is a member of the International Pompe Registry Board of Advisors. She is also the Chief of Medical Genetics and the medical director of the YT and Alice Chen Paediatrics Genetics and Genomics Centre, which has a delivery to skeletal muscles.
Discussions included the current challenges of antibody titers in Pompe patients on ERT, the need for early identification of patients at risk and treatment approaches that have resulted in good outcome.
Some children develop an immune reaction that blocks the effects of Myozyme treatment. However, researchers at Duke, along with collaborators at other centers, have found that a very low-dose combination of medicines typically used to treat cancer is successful in eliminating or preventing the immune response in these patients. The drugs -- rituximab, methotrexate, and gammaglobulins -- are a mix of chemotherapeutic agents. The chemo drugs allow the patients to tolerate and respond to the Myozyme treatment, which is the only therapy for these kids. "It was really rewarding because the babies did not make antibodies and continued to do well clinically," Dr. Kishnani said. "The oldest child is now over 5 years of age, remains antibody-negative and has come off all chemotherapy." Dr. Kishnani says prior to the chemo discovery, children who developed antibodies and could not benefit from Myozyme would have died.
Gene therapy
This is a subject which is so complicated for the layperson like myself. I won’t attempt to cover the scientific stuff here. Clinical trials are underway currently into gene transfer, and by all accounts it is looking extremely promising.
An excerpt from the conference agenda;
Gene Therapy for Pompe Disease, by Andrea Amalfitano, D.O., Ph.D. Department of Microbiology and Molecular Genetics, Michigan State University
Our group has pioneered research into the potential to treat Pompe patients via gene transfer based therapeutics. Early in our studies, we found that direct intramuscular transfer of the acid alpha glucosidase (GAA) gene via Adenovirus (Ad) or Adeno-Associated Virus (AVV) based vectors could result in localised expression of GAA, as well limited secretion of GAA protein from the so-treated muscles. However, the amounts of GAA protein secreted...(more to add)
Round table discussion
At the end was a round table patient discussion led by Maryze Schoneveld van der Linde, a patient from The Netherlands.
“In May 2011, Maryze received the Angel Award for Rare Diseases 2011. This award is granted in the Netherlands to someone for extraordinary work, commitment and dedication that had a significant impact for rare diseases and Pompe disease in particular. In September 2010 Maryze received a Leadership Award from the Italian Neuromuscular Disease Association for commitment in connecting and empowering people with a neuromuscular disease”.
During this discussion we were able to talk about anything we wanted to regarding how Pompe effects our lives. It was a wonderful opportunity to hear other peoples perspectives on how they deal with this disease. Doctors also remained present and were interested to hear the patients’ views.
We were all there for one common goal and the whole meeting was full of happy and supportive people.
My favourite quote of meeting – Trevor from Canada. Trevor has Pompe and when he was younger was able to play hockey and run around. As Pompe took a hold of his body and robbed him of his ability to move, he said “I may not be able to play hockey any more, but I’m gonna be the best darned hockey watcher in Canada”! We can learn a lot from Trevor!
Other things which really struck a chord with me; There were no egotistical people there, the doctors were keen to learn off other doctors and to help patients, and they actually listened to our concerns! They were helpful and friendly, and with absolute expert knowledge.
I came away from the conference full of hope for our future.
This conference was well attended and well organised which helps to keep everyone involved with Pompe disease informed and up to date with the happenings in the world of Pompe. The science is ever evolving and gene therapy looks to be the jewel in the crown of treatment. There is talk now of being able to inject the vector straight into a vein. How easy is that?! Ok don’t ask me how easy that is, ask the experts. But this is what is now being talked about, although this will be some time away.
Clinical trials are essential and NZ must do all it can to help patients to either get on these, or to put their hand up for sites to be held in NZ, particularly because we lack the opportunity for treatment given our government and Pharmac’s view of the treatment of these very rare types of diseases. We should at least be told of the opportunities available. If you would like to see what is available in the world of clinical trials please check out the following website. If there is something there that interests you, you are able to contact the trial co-ordinators directly to register your interest.
Clinical trials.gov
New Zealand has a lot to learn from these people and it would be wise for our specialists charged with looking after our NZ Pompe patients, to attend these conferences and pick the brains of these experts. Today’s modern communication via email/skype also means these specialists are only the click of a mouse away. NZ patients, in my own personal experience, are not well served by the medical fraternity in New Zealand itself. We need and deserve a stronger commitment by our health professionals to our health and wellbeing.
There are huge strides being made in the research and treatment of Pompe, and this must be embraced by New Zealand, anything less is just negligent. Doctors and specialists must also work with patients and patient groups to find out what is needed, what is expected, and what is best for each individual. This Pompe Model is working worldwide, but certainly not in NZ at this time. This has to change right now. Doctors, please ask us, the patients, what we need, and in turn please provide us with the most up to date information there is in your efforts to help us. Working together can only make things better.
This opinion I hold was validated for me when I read a message in an “In Touch” magazine from Dr Richard Roxburgh referring to the NZ Neuromuscular Disease Registry.
“This will allow New Zealanders with neuromuscular conditions to go beyond being passive recipients of research. This is your registry; these are your clinicians and scientists. We require you to demand this of us and invite you to change the future of those with neuromuscular conditions”.
Thank you Dr Roxburgh, we will indeed! And I sincerely hope these are not empty words.
The following statement is from the father of a little girl with the infantile form of Pompe. It epitomises the feelings and the problems that many of us with Pompe disease have when looking for help with our health. Thank you Jeff for your kind permission to use this statement.
It is scary knowing the lack of true understanding and ignorance many physicians have outside an operating room or a prescription pad. Providing care 24 hours a day/7 days a week and actually delivering the interventions provides a depth of knowledge that can't be delivered by means of literature review, medical references, or attending rounds. Yet, most doctors are reluctant to accept this fact along with the findings and recommendations caregivers have to offer. Nearly every trip to an appointment at Cincinnati Childrens Hospital has left me feeling like a burden for being a parent who is well versed on my daughter’s condition, interventions, needs and has the ability to identify concerns. Without being an aggressive advocate for Addylen she would simply receive the status quo; be on vent support and receive an enzyme infusion every 2 weeks with the simple goal of slowing the deterioration of her health, with no effort of actually advancing the quality of her health. Obviously, that isn’t good enough for me, which led us to the wonderful group of people in Florida with the same goal of improving her condition. If you ever find yourself or a dependent in a battle against a disease, know that your willingness to question everything, seek answers and advocate (often ruffling feathers) for the best care are as instrumental or more so in the outcome than the healthcare providers themselves. Do not let anyone's ego interfere with you directing them when appropriate, and realize you may discover knowledge they have not been presented with despite what title they may have.
Jeff Reeder
The New Zealand Pompe Network (NZPN) is now a full member of the IPA which helps give us a voice in the international world of Pompe disease.
This article contains part personal opinion and experience, plus excerpts from the Conference Agenda. I don’t want to plagiarise the whole agenda, so I have taken excerpts from it.
To start off the conference we were treated to an afternoon at Sea World on Friday, followed by a welcome dinner at Sea World that evening. It was a great way to start off meeting everyone in a fun and relaxed environment.
The Master of Ceremonies for the conference was Dr Arnold Reuser, Ph.D. Erasmus University Medical Centre, Department of Clinical Genetics, Rotterdam, the Netherlands.
The list of topics covered were:
What is Pompe? Presented by Paul Plotz, M.D.
History of Pompe; presented by Kevin O’Donnell, Ph.D.
Dr O’Donell is based in Edinburgh, Scotland. Although he is a professional scientist, his interest in Pompe disease is personal; he and his wife lost their first child to the disease in 1993.
This presentation summarised the history of the development of enzyme replacement therapy (ERT) for Pompe disease. Pompe disease was discovered 80 years ago by J C Pompe. Improved understanding of the nature of Pompe disease led to the search for treatment, which has so far led us to ERT. The scientific and industrial development of ERT is intertwined with another story, that of the growth of an international Pompe community. These things together have formed a group of patients, scientists and industry working towards a common goal. Understanding the past, what went wrong and what went right, will ensure a better understanding of the present, and better planning for our future. This is what is known as the “Pompe Model”.
Enzyme Replacement Therapy & IPA/Erasmus Survey presented by Deniz Gungor, M.D., MSc
In 2002, Erasmus MC and the International Pompe Association (IPA), the worldwide federation of patient groups, started an international study (the IPA/Erasmus MC Pompe Survey) in children and adults with Pompe disease by means of self-report questionnaires in order to improve the understanding of the natural course of Pompe disease, the impact of the disease on daily life of patients and the effects of innovative therapies. Since the start of the study, patients completed questionnaires on an annual basis. At this moment, more than 300 Pompe patients have participated in the survey through the IPA-affiliated patient organisations in the United States, the United Kingdom, the Netherlands, Germany, France, Canada, Australia and New Zealand.
Recent studies have focused on the impact of Pompe disease on the life expectancy of (adult) patients. So far, data on life expectancy were available for infants but not for adults. Information on life expectancy have become increasingly important since reimbursement agencies are requesting this type of information for decision making.
Pharmac and PTAC are also awaiting the newest information out of Erasmus…
Industry updates from BioMarin, Genzyme and Amicus
Respiratory issues, Swallowing, Disphagia and Lingual Weakness in Pompe
Newborn screening: Taiwan’s experience; Presented by Y-T Chen
Early diagnoses and early intervention has been proven to be of benefit to patients and increases the chance to achieve maximum therapeutic effect. The best way to speed up diagnoses is universal newborn screening. “Pompe disease has a broad clinical spectrum and newborn screening will probably not just identify patients who will develop symptoms within a few months after birth, but also persons who will develop symptoms at a later age”. A large scale newborn screening pilot program was conducted in Taiwan from October 2005 to March 2008. The screening involved measuring GAA activity in dried blood spots in approximately 45% of newborns in Taiwan. The unscreened population was monitored as a control group. After this study, all newborns in Taiwan received GAA screening on a voluntary basis.
The incidence of all types of Pompe disease detected by the newborn screening program was approximately 1 in 18,108. 6 newborns were classified as having infantile-onset Pompe disease and were treated within a week after diagnoses. They all demonstrated normalisation of cardiac size and muscle pathology with normal physical growth and age-appropriate gains in motor development.
Although the general awareness of Pompe disease is typically increased through activities of patient organisations there are still diagnostic delays caused by unawareness due to rarity of the disease. Newborn screening reduces the role of physicians in the diagnostic process as the screening identifies the disease before the onset of clinical symptoms. Newborn screening changes the role of the physicians from being professionals that are able to recognise the clinical symptoms and to order correct testing, to professionals that are able to translate findings and subsequently initiate a timely intervention. Clearly this is critical in Pompe disease where the earliest interventions will provide the best outcome from treatment.
~It is interesting to note that the PBAC in NZ has decided that no infants or adults will be funded for ERT in New Zealand for Pompe disease. This leads me to wonder if newborn screening will be instituted in NZ. If not, this will be yet another example of how far behind the rest of the world New Zealand is in regards to the health and welfare of Pompe patients.
~AMDA have just announced that NBS is one step closer to being added to the federal newborn screening program.
The Role of Antibodies presented by Priya Kishnani, M.D.
Dr Kishnani is the Chair of the North American Pompe Registry Board and is a member of the International Pompe Registry Board of Advisors. She is also the Chief of Medical Genetics and the medical director of the YT and Alice Chen Paediatrics Genetics and Genomics Centre, which has a delivery to skeletal muscles.
Discussions included the current challenges of antibody titers in Pompe patients on ERT, the need for early identification of patients at risk and treatment approaches that have resulted in good outcome.
Some children develop an immune reaction that blocks the effects of Myozyme treatment. However, researchers at Duke, along with collaborators at other centers, have found that a very low-dose combination of medicines typically used to treat cancer is successful in eliminating or preventing the immune response in these patients. The drugs -- rituximab, methotrexate, and gammaglobulins -- are a mix of chemotherapeutic agents. The chemo drugs allow the patients to tolerate and respond to the Myozyme treatment, which is the only therapy for these kids. "It was really rewarding because the babies did not make antibodies and continued to do well clinically," Dr. Kishnani said. "The oldest child is now over 5 years of age, remains antibody-negative and has come off all chemotherapy." Dr. Kishnani says prior to the chemo discovery, children who developed antibodies and could not benefit from Myozyme would have died.
Gene therapy
This is a subject which is so complicated for the layperson like myself. I won’t attempt to cover the scientific stuff here. Clinical trials are underway currently into gene transfer, and by all accounts it is looking extremely promising.
An excerpt from the conference agenda;
Gene Therapy for Pompe Disease, by Andrea Amalfitano, D.O., Ph.D. Department of Microbiology and Molecular Genetics, Michigan State University
Our group has pioneered research into the potential to treat Pompe patients via gene transfer based therapeutics. Early in our studies, we found that direct intramuscular transfer of the acid alpha glucosidase (GAA) gene via Adenovirus (Ad) or Adeno-Associated Virus (AVV) based vectors could result in localised expression of GAA, as well limited secretion of GAA protein from the so-treated muscles. However, the amounts of GAA protein secreted...(more to add)
Round table discussion
At the end was a round table patient discussion led by Maryze Schoneveld van der Linde, a patient from The Netherlands.
“In May 2011, Maryze received the Angel Award for Rare Diseases 2011. This award is granted in the Netherlands to someone for extraordinary work, commitment and dedication that had a significant impact for rare diseases and Pompe disease in particular. In September 2010 Maryze received a Leadership Award from the Italian Neuromuscular Disease Association for commitment in connecting and empowering people with a neuromuscular disease”.
During this discussion we were able to talk about anything we wanted to regarding how Pompe effects our lives. It was a wonderful opportunity to hear other peoples perspectives on how they deal with this disease. Doctors also remained present and were interested to hear the patients’ views.
We were all there for one common goal and the whole meeting was full of happy and supportive people.
My favourite quote of meeting – Trevor from Canada. Trevor has Pompe and when he was younger was able to play hockey and run around. As Pompe took a hold of his body and robbed him of his ability to move, he said “I may not be able to play hockey any more, but I’m gonna be the best darned hockey watcher in Canada”! We can learn a lot from Trevor!
Other things which really struck a chord with me; There were no egotistical people there, the doctors were keen to learn off other doctors and to help patients, and they actually listened to our concerns! They were helpful and friendly, and with absolute expert knowledge.
I came away from the conference full of hope for our future.
This conference was well attended and well organised which helps to keep everyone involved with Pompe disease informed and up to date with the happenings in the world of Pompe. The science is ever evolving and gene therapy looks to be the jewel in the crown of treatment. There is talk now of being able to inject the vector straight into a vein. How easy is that?! Ok don’t ask me how easy that is, ask the experts. But this is what is now being talked about, although this will be some time away.
Clinical trials are essential and NZ must do all it can to help patients to either get on these, or to put their hand up for sites to be held in NZ, particularly because we lack the opportunity for treatment given our government and Pharmac’s view of the treatment of these very rare types of diseases. We should at least be told of the opportunities available. If you would like to see what is available in the world of clinical trials please check out the following website. If there is something there that interests you, you are able to contact the trial co-ordinators directly to register your interest.
Clinical trials.gov
New Zealand has a lot to learn from these people and it would be wise for our specialists charged with looking after our NZ Pompe patients, to attend these conferences and pick the brains of these experts. Today’s modern communication via email/skype also means these specialists are only the click of a mouse away. NZ patients, in my own personal experience, are not well served by the medical fraternity in New Zealand itself. We need and deserve a stronger commitment by our health professionals to our health and wellbeing.
There are huge strides being made in the research and treatment of Pompe, and this must be embraced by New Zealand, anything less is just negligent. Doctors and specialists must also work with patients and patient groups to find out what is needed, what is expected, and what is best for each individual. This Pompe Model is working worldwide, but certainly not in NZ at this time. This has to change right now. Doctors, please ask us, the patients, what we need, and in turn please provide us with the most up to date information there is in your efforts to help us. Working together can only make things better.
This opinion I hold was validated for me when I read a message in an “In Touch” magazine from Dr Richard Roxburgh referring to the NZ Neuromuscular Disease Registry.
“This will allow New Zealanders with neuromuscular conditions to go beyond being passive recipients of research. This is your registry; these are your clinicians and scientists. We require you to demand this of us and invite you to change the future of those with neuromuscular conditions”.
Thank you Dr Roxburgh, we will indeed! And I sincerely hope these are not empty words.
The following statement is from the father of a little girl with the infantile form of Pompe. It epitomises the feelings and the problems that many of us with Pompe disease have when looking for help with our health. Thank you Jeff for your kind permission to use this statement.
It is scary knowing the lack of true understanding and ignorance many physicians have outside an operating room or a prescription pad. Providing care 24 hours a day/7 days a week and actually delivering the interventions provides a depth of knowledge that can't be delivered by means of literature review, medical references, or attending rounds. Yet, most doctors are reluctant to accept this fact along with the findings and recommendations caregivers have to offer. Nearly every trip to an appointment at Cincinnati Childrens Hospital has left me feeling like a burden for being a parent who is well versed on my daughter’s condition, interventions, needs and has the ability to identify concerns. Without being an aggressive advocate for Addylen she would simply receive the status quo; be on vent support and receive an enzyme infusion every 2 weeks with the simple goal of slowing the deterioration of her health, with no effort of actually advancing the quality of her health. Obviously, that isn’t good enough for me, which led us to the wonderful group of people in Florida with the same goal of improving her condition. If you ever find yourself or a dependent in a battle against a disease, know that your willingness to question everything, seek answers and advocate (often ruffling feathers) for the best care are as instrumental or more so in the outcome than the healthcare providers themselves. Do not let anyone's ego interfere with you directing them when appropriate, and realize you may discover knowledge they have not been presented with despite what title they may have.
Jeff Reeder