MPS VI
Alberta Toddler Awaiting Funding For Life Sustaining Treatment
ALBERTA TODDLER AWAITING FUNDING FOR LIFE-SUSTAINING TREATMENT
St. Albert Toddler Diagnosed With Ultra-Rare Condition; Treatment Already Being Funded In Numerous Provinces
Alberta Health is currently considering an application for exceptional funding of an expensive life-sustaining treatment required by an Alberta toddler. Three year-old Aleena Sadownyk was recently diagnosed with MPS VI, and requires the life-sustaining treatment immediately in order to halt further progression of her devastating disease. Alberta Health has already denied funding for the treatment through the Alberta Rare Diseases Funding Program. They are now reviewing a second application through the Short Term Exceptional Drug Therapy (STEDT) program. While Aleena needs to begin treatment immediately, there has been no timeline set for a decision from Alberta Health.
Aleena suffers from a rare enzyme deficiency called MPS VI (also known as Maroteaux-Lamy Syndrome). Sufferers of MPS VI lack an enzyme in their blood that breaks down cellular waste in the body called glycosaminoglycan (GAG). These GAGs build up in the bones, tissues, organs, and muscles of affected individuals and lead to many devastating symptoms including heart and airway disease, corneal clouding, stiffening of the joints, shortened stature, and premature death. To date, there are 9 children suffering from the disease in Canada and roughly 1,100 worldwide.
While there is no known cure for MPS VI, a treatment does exist. Naglazyme is an Enzyme-Replacement Therapy (ERT) designed to provide patients with a synthetic version of the enzyme they are lacking by infusing small doses into the patient’s bloodstream on a weekly basis. Produced by Biomarin, the treatment for this orphan disease can range from $300,000 per year for a small individual to $1 million per year for a young adult. Due to the lack of an orphan drug policy in Canada, Naglazyme is only available to Canadian patients through the Federal Government’s Special Access Program (SAP). It is being used for patients in Ontario, British Columbia, Saskatchewan, and Quebec through the SAP and is funded by the Provincial governments respectively. Currently, Naglazyme has been approved in numerous countries worldwide, including the United States, the European Union, and Australia.
In Canada, there are numerous precedents for the life-sustaining treatment to be funded. The first approved case took place in Ontario where the parents of 9 year-old Isaac McFadyen, residents of Campbellford, Ontario, successfully lobbied the Government to fund the expensive Enzyme Replacement Therapy for him when he was diagnosed in 2006. After a very public campaign to secure funding, Isaac has been receiving his weekly infusions at The Hospital For Sick Children in Toronto for 7 years. Since then, numerous other provinces have used the precedent set by the McFadyen case and have approved the same treatment for their patients, most recently in 2012 in Saskatchewan and 2011 in Ontario.
Prior to starting treatment, Isaac suffered from severe compression of his spinal cord that required the removal of a piece of his skull and a portion of his vertebrae. In addition, Isaac endured numerous other surgeries to treat complications of the advancing disease in his body. Since beginning his weekly infusions, Isaac’s liver and spleen have reduced back down to a normal size, his rate of growth has increased, his heart function has improved, and his heart valve disease has stabilized. Furthermore, Isaac has had no further progression of his bone and joint disease, airway disease, and compression of his spinal cord.
Naturally, the Sadownyk family has been devastated by the diagnosis of their daughter, Aleena. Laura Sadownyk, Aleena’s mother, expressed her fears about the length of time the government is taking to render its decision. “It’s very agonizing to wait patiently, especially after hearing the experts in this field talk about early diagnosis and treatment being the best way to prevent the onset of a lot of the effects of this disease.”
McFadyen also notes how important it is to get children affected with MPS VI started on weekly infusions at a young age, and is also frustrated by the process put in place to review rare disease funding in the province. “We know that this treatment can slow down or even halt the disease progression in individuals so it’s very important to begin treatment as soon as possible after diagnosis. Aleena has already been approved by the Special Access Program to receive the treatment she so desperately needs. The only thing stopping her from beginning that treatment is the lack of funding by the Province.” Adds Sadownyk, “It’s heartbreaking that the fate of our daughter rests in the hands of bureaucrats.”
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For more information about this topic, or to schedule an interview to discuss, please call Andrew at 613-328-9136 or email Andrew at mcfadyena@me.com.
More Family Team Raises Funds For The Isaac Foundation
The Wellington Advertiser – June 14, 2013
Journey for Jasper – The More family team travelled to Ottawa to participate in a 5km race to raise funds for The Isaac Foundation. From left: front, MPS VI patients Isaac McFadyen and Jasper More; centre, Brad Craven, Ellen Buck-McFadyen, Gabe McFadyen, Spencer Dyce, Clayton More, Troy Dyce, Quinn Dyce, Andrew Craven, Daphnie More, Pam More; back, Erica Dyce, Russel Dyce, Jordy Dyce, Wayne Dyce, Dennis Craven, Darren More. submitted photoPALMERSTON
The More family, including four-year old Jasper, and a team of dedicated family and friends travelled to Ottawa to participate in the annual race weekend on May 25.
A hard working team of 24 individuals collected sponsorships and took part in the 5km event, one of the many race events held that weekend in the city. They were raising money for The Isaac Foundation, a charity dedicated to funding medical research into MPS VI, an extremely rare and devastating disease that Jasper was diagnosed with in 2011.
Since the diagnosis, the family has joined forces with The Isaac Foundation to co-ordinate events and raise money in hopes of finding better treatments and ultimately a cure for the condition. The foundation is currently funding two research projects that are leading to some promising data.
Together the team was able to raise over $14,000 in preparation for their walk. The More family team, known as “Journey for Jasper” was amazed at the support the community had to offer and thanked all their team members for their dedication to participate. They also thanked those who so willingly donated to the cause. Every dollar collected goes directly to research.
The next event the family is planning is a huge yard and bake sale and barbecue on June 29 from 8am to 2pm at the Lawrence Park pavilion in Palmerston.
The family is accepting donations of items to be sold from now until the date of the event and hopes the community will come out to support The Isaac Foundation and their quest for a cure. If you wish to get involved please contact Pam or Darren at 519-343-5923 or pam@theisaacfoundation.com
Drug Company’s Decision Gives Trent Hills Father Hope
Experts will review research data on rare disease
“That’s incredible news for our families and our kids,” Mr. McFadyen said. “We’re pretty pleased.”
The elementary school teacher has been relentless in trying to persuade the pharmaceutical company to undertake a clinical trial of an anti-inflammatory drug it makes to treat a bladder condition.
Research involving rats funded by Mr. McFadyen’s Isaac Foundation indicates the medication could also benefit people with MPS, a group of disorders caused by an enzyme deficiency. Its symptoms vary but in the case of his eight-year-old son, MPS IV has stunted his growth, restricted his mobility and affected his breathing.
Mr. McFadyen received word of Johnson and Johnson’s decision from the company’s chief medical officer for its pharmaceuticals division, Dr. Amrit Ray, last Saturday. They talked several times over the phone and are to meet in person in a couple of weeks.
Isaac “was pretty excited to hear the news,” he said.
Mr. McFadyen said “almost every MPS specialist in the world … the who’s who” of the profession, will sit on the panel. They will review the research data and recommend if a clinical trial is warranted.
He’s “very confident” they will but should they decide against it, “that’s also in the best interests of our kids. I would never want to move forward with something that’s unsafe or not going to help.”
Mr. McFadyen said a public advocacy campaign he mounted recently resulted in “hundreds and hundreds of people sending e-mails” to Johnson and Johnson in support of his efforts.
Drug Company's Decision Gives Trent Hills Father Hope
Experts will review research data on rare disease
“That’s incredible news for our families and our kids,” Mr. McFadyen said. “We’re pretty pleased.”
The elementary school teacher has been relentless in trying to persuade the pharmaceutical company to undertake a clinical trial of an anti-inflammatory drug it makes to treat a bladder condition.
Research involving rats funded by Mr. McFadyen’s Isaac Foundation indicates the medication could also benefit people with MPS, a group of disorders caused by an enzyme deficiency. Its symptoms vary but in the case of his eight-year-old son, MPS IV has stunted his growth, restricted his mobility and affected his breathing.
Mr. McFadyen received word of Johnson and Johnson’s decision from the company’s chief medical officer for its pharmaceuticals division, Dr. Amrit Ray, last Saturday. They talked several times over the phone and are to meet in person in a couple of weeks.
Isaac “was pretty excited to hear the news,” he said.
Mr. McFadyen said “almost every MPS specialist in the world … the who’s who” of the profession, will sit on the panel. They will review the research data and recommend if a clinical trial is warranted.
He’s “very confident” they will but should they decide against it, “that’s also in the best interests of our kids. I would never want to move forward with something that’s unsafe or not going to help.”
Mr. McFadyen said a public advocacy campaign he mounted recently resulted in “hundreds and hundreds of people sending e-mails” to Johnson and Johnson in support of his efforts.
Virtual Zeal Rare Disease Caregivers Carry A Powerful Voice In Social Media
Figure 2: Isaac McFadyen (front) who suffers from MPS VI, flanked by his family including his father and advocate Andrew McFadyen (right). Image courtesy of The ISAAC Foundation.
According to Mr. McFadyen, his efforts were rebuffed several times until finally in February 2012, he began a social media campaign, including a website not so subtly titled “ShameonJNJ.com”, Twitter and e-mail barrage, and Facebook community to encourage Janssen / Johnson &, Johnson to reconsider its decision. The campaign culminated around February 28, Rare Disease Day, with several Janssen executives receiving hundreds of e-mails from impassioned parents and supporters of MPS families.
This article highlights how rare disease patients and caregivers can harness the power of social media to support or challenge pharmaceutical companies. The equivalent of a modern day megaphone, telephone, and printing press combined, social media showcases its power in no more passionate…
Melissa Hogan – SavingCase
This article explores the voice of rare disease patients and caregivers in social media and the power they wield to support or challenge the pharmaceutical companies that serve them.
The equivalent of a modern day megaphone, telephone, and printing press combined, social media showcases its power in no more passionate an arena than in rare disease.
While some think of Facebook as a fun pastime, in private rooms or sometimes publicly, rare disease sufferers and their caregivers are offering diagnoses and treatment advice, discussing side effects, and advising on every other aspect of life with a chronic or rare condition. While some follow celebrities on Twitter, those affected by rare disease might use Twitter to make sure their views are heard by pharma and their governments alike.
On the heels of Rare Disease Day, you’d be remiss not to know that rare disease advocates are often proud of their status as ‘zebras’. “If you hear hoofbeats, think horses, not zebras” is the oft-quoted tenet of medical diagnosis, the assumption being that often the simplest explanation, rather than a rare or exotic disease, is usually the best.
Zeal is not just a pack of zebras
It is that perspective that has made rare disease groups stand up and proudly claim the title of zebras, often displaying stuffed zebras at their events. But when zebras become a pack, as they often do on social media, they become a zeal, a title that is not only categorically appropriate, but descriptively appropriate as well.
In addition to describing a pack of zebras, zeal is defined as “great energy or enthusiasm in pursuit of a cause or an objective.” More than almost any other online group, those affected by rare disease approach their cause of support, education, medical care, and advocacy with great energy and enthusiasm. In describing them and others like them as the “alpha geeks” of health care, internet geologist Susannah Fox notes: “They are in the crucible. They ‘roll their own’ by creating communities of health information exchange where none had existed.”
“On the heels of Rare Disease Day, you’d be remiss not to know that rare disease advocates are often proud of their status as ‘zebras’.”
Feeling the zeal
Not only can rare disease patients utilize social media in their diagnosis, support, and treatment efforts within their population, one should be cognizant of both the benefits patients can confer in raising awareness and getting expensive treatments reimbursed, but also the damage they can inflict via the democratizing medium of social media. An example of both can be found in the efforts of Canadian-based The ISAAC Foundation and its founder, Andrew McFadyen, a parent of a child with the rare disease Mucopolysaccharidosis (MPS) VI.
To date, Mr. McFadyen’s social media efforts have succeeded in obtaining reimbursement of high priced enzyme replacement therapies for several patients, including his own son Isaac, by their Canadian provinces after the provinces first declined or delayed reimbursement. While pharma companies are surely lobbying for reimbursement of their treatments, sometimes only the efforts of the patients they serve are viewed with collective sympathy.
In 2012, for example, the family of a young girl with MPS VI, Violet Revet, had been awaiting for approximately six months for word on reimbursement for the drug Naglazyme® by the Saskatchewan, Canada health ministry. Without an answer, and watching the disease progress in their daughter, the parents went to Mr. McFadyen for help. A Twitter campaign caught the attention of Premier Brad Wall who responded and the treatment was approved within days. The effect was as clear as the Premier’s statement: Twitter “democratizes things.”
“While pharma companies are surely lobbying for reimbursement of their treatments, sometimes only the efforts of the patients they serve are viewed with collective sympathy.”
Amplifying the voice of reason
While pharma can benefit from the efforts of patient advocates, they can be the target of such efforts as well, such as Mr. McFadyen’s latest endeavor, which I was able to view from the inside out.
Over the last several years, scientists began studying the use of a Janssen FDA-approved drug for interstitial cystitis called Elmiron® for the bone and joint problems that plague children with MPS. The ISAAC Foundation was one financial supporter of those studies. Data from small animal studies were completed in 2012 and presented at several conferences. This precipitated Mr. McFadyen’s conversations with Janssen itself to explore the research further and possibly support human trials.
“…it is clear that their behaviors and efforts cannot be ignored.”
On March 1, Johnson &, Johnson changed its Twitter handles that had been receiving some of the barrage, from @JNJComm and @JNJStories to the new @JNJCares, @JNJParents, and @JNJNews. Janssen also quickly began organizing a medical advisory board to both bring Janssen up to speed on a disease with which it was unfamiliar (Mucopolysaccharidosis) and to consider the scientific evidence and what next steps to take.
Some might disagree with the public pressure of social media tactics like those employed by Mr. McFadyen and his supporters, calling it public bullying. When asked what he thinks of those who might say that using such tactics make him a bully, Mr. McFadyen replied:
This is not being a bully. I’m just one man with a firm belief in the rights of those with rare disease to have treatments just like those with cancer or heart disease. One might instead call a large pharmaceutical company or a government a bully when they make decisions without considering who they affect. With social media, we simply help amplify the voice of reason.
Whether studying, interacting, advertising to, benefitting from, or even suffering from the behaviors of rare disease sufferers on social media, it is clear that their behaviors and efforts cannot be ignored.
Related articles
Angry Parents Force J&,J To Do Damage Control – pharmalot
When Rare Just Isn’t Enough: The Case of Elmiron – SavingCase.com
References
1. http://susannahfox.com/2011/07/06/alpha-geeks-in-health-care/.
2. http://www.newstalk980.com/story/saskatchewan-girl-waiting-help-rare-disease/67994
3. http://www2.canada.com/saskatoonstarphoenix/news/story.html?id=6e79808f-1adf-45de-92ba-589a8517e2d1
About the author:
Melissa Hogan is a lawyer and strategic consultant by profession, but since her youngest son Case’s diagnosis with MPS II in 2009, she has also applied her experience to become an advocate, author, and speaker on behalf of rare disease families. She writes about advocacy, medical research, pharma, clinical trials, therapies, social media and special education on SavingCase.com, a blog that is now read in over 100 countries. She also uses other social media strategies such as Twitter, Facebook, Pinterest, YouTube, and LinkedIn and serves on the Advisory Board for the Mayo Clinic Center for Social Media.
She is also the author of the e-book Calmer: Medical Events with Cognitively Impaired Children (2012) which seeks to share strategies for preventing medical trauma in children with chronic medical conditions.
For more information, visit www.savingcase.com. Melissa can be reached via Twitter @savingcase or by e-mail at melissa@savingcase.com.
Angry Parents Force J&J To Do Damage Control
There is nothing like a bit of pressure from an angry mom or dad to generate heat. And thanks to the modern wonders of the Internet, an Ontario schoolteacher has succeeded in forcing Johnson & Johnson to scramble to contain a mushrooming controversy. At issue: a months-long refusal by the health care giant to support further research involving one of its own drugs for a debilitating disease.The uproar emerged two weeks ago. Andrew McFadyen, whose eight-year-old son suffers from MPS, a group of rare genetic disorders caused by the absence or malfunctioning of lysosomal enzymes, grew frustrated with J&J and turned to the Internet to publicize his quest. For more than a year, he had hoped J&J would agree to work with researchers at the Mt. Sinai School of Medicine who found that a J&J drug called Elmiron may offer some hope.
His primary contact at Mt. Sinai is Calogera Simonaro, an associate professor in the Department of Genetics and Genomic Sciences, who recently co-authored a paper showing various improvements in rats given Elmiron, a J&J drug that is approved for treating interstitial cystitis, which is also known as painful bladder syndrome. The two met a few years ago when Simonaro applied for a grant from the foundation that McFadyen created to further MPS research and help his son, Isaac (see photo above).
“She met with (J&J representatives) last spring to present her data to show how the drug worked and she reported back to me that they weren’t interested,” says McFadyen, who hoped J&J would back additional studies, such as testing in larger animals. “Essentially, we were put off. The discussions were not going anywhere. Our researchers and their medical team finally held a teleconference last November, but then, there was no follow up.”
“We spent nearly a year trying to convince J&J that they should (support the MPS research at Mt. Sinai and clinical research using Elmiron). It could save the healthcare industry lots and lots of money. Right now, it can cost $500,000 to $1 million a year for enzyme replacement therapy, which is an imperfect situation,” he says. “But most important, it might increase the quality of life for the children and save a lot of lives.”
Simonaro declined to comment, other than to offer a statement in which she said “we are in discussions with potential partners who have an interest in testing (Elmiron) for MPS in a formal clinical trial setting so that the therapy can be approved and available for use by all patients.” Mt. Sinai, by the way, is obtaining intellectual property rights to use the drug for MPS treatment, according to sources.
There are actually several forms of MPS, which can cause a variety of symptoms, including mental retardation, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a shortened life span. The disease occurs in about one in every 25,000 births, according to theInternational MPS Network.
In other words, this is a rare disease and Fadyen has openly expressed concerns that J&J was not interested in making an investment that called for pursuing years worth of costly research for a treatment for a small patient population, even though orphan drugs are increasingly commanding price tags of $250,000 or more per year for each patient (read this and this).
So last month, McFadyen reached out once again to J&J and received a reply from Steve Silber of the R&D team at Janssen, the J&J unit that sells Elmiron. Silber offered to make the drug available to McFadyen’s son on a compassionate use basis and to work with physicians on a so-called investigator-initiated study (read his letter here). McFadyen responded two ways – he wrote a harsh response that accused J&J of stalling tactics and he created a web site calledshameonjnj.com.
The web site quickly attracted attention not only among those with MPS and their family members, but people who were upset that J&J appeared unwilling to extend its largesse to others. As McFadyen viewed it, J&J was offering only his son compassionate access, which he declined to accept because he believed the health care giant should make Elmiron available to anyone who might benefit. And since J&J released its letter publicly, he placed that and his own reply on the new web site.
“From the very beginning, we have approached Johnson & Johnson about working toward such a study and, time and time again, we were ignored, rebuffed and put off,” he responded to Silber. “Families dealing with this disease are incredibly vulnerable and being caught in the middle of weighing the risks vs. rewards of putting our children on this treatment off label without adequate safety and efficacy data.”
By last week, this very public exchange, which prompted angry parents to Tweet links to the web site and post on a Facebook page as well, was on the verge of giving J&J (JNJ) yet another image headache. The health care giant, you may recall, has suffered a series of embarrassing gaffes over the past three years – manufacturing problems that led to the recall of countless over-the-counter items such as Tylenol and Motrin; courtroom setbacks over Risperdal marketing (seethis and this) and a scandal over the safety of hip implant replacements.
And so, J&J late last week began a counterattack. In response to the sudden burst of negative publicity, Jannsen had its chief medical officer, Amrit Ray, respond to McFadyen in yet another letter. And this time, he made a point of writing that compassionate access would be available to any child and reiterated the offer to support an investigator-initiated study with any physician would be interested in doing so. Ray also maintained that J&J was convening a group of experts to explore the possiblities for supporting MPS research with Elmiron.
“We’re trying to get in the right place to where we can get the right data. It’s not one of the areas where we have a lot of experience,” Ray told us. “There has never been any data to indicate it would help patients.. but we’re eager to understand the data… and we’re certainly open to hearing a proposal. In this case, we would like to get some additional expertise to assess any proposal” from a physician willing to administer the drug. However, he disputed some of the chronology that McFadyen offered about miscues last year for substantive discussions.
Initially, McFadyen responded with skepticism and continued to express concern that experimental usage of the drug poses risks and that J&J should be willing to commit to supporting a regular clincical trial. By the start of this week, though, he had held several telephone conversations with Ray and now tells us he is willing to give J&J a chance to work with families. In fact, he is considering pulling down the shameonjnj web site. “I think the web site achieved its goal,” he says.
“Does this mean that a clinical trial is imminent? The answer is no, we aren’t there yet. But this does mean that a true review of Elmiron by Janssen will be thoroughly conducted by the some of the best minds in the field of MPS, from all over the world,” McFadyen wrote on the Isaac Foundation web site (read here). “We look forward to monitoring the progress of those discussions as we seek to find the best treatment options possible for all of our kids suffering from MPS.”
Whether J&J follows through, of course, remains to be seen. The drugmaker is not under any obligation to fund additional research, although the resources needed to explore the possibilities – with the help of scientific experts who can ballpark the odds of success – are relatively modest. For now, though, J&J has scored a win. In a hurly burly world where just about everything can – and often does – go viral quickly, the health care giant has managed to diffuse a potential crisis. And unless J&J commits yet another blunder and angers MPS families again, this is a rare accomplishment when considering the recent spate of scandals, gaffes and setbacks on so many fronts.
Angry Parents Force J&J To Do Damage Control
There is nothing like a bit of pressure from an angry mom or dad to generate heat. And thanks to the modern wonders of the Internet, an Ontario schoolteacher has succeeded in forcing Johnson & Johnson to scramble to contain a mushrooming controversy. At issue: a months-long refusal by the health care giant to support further research involving one of its own drugs for a debilitating disease.The uproar emerged two weeks ago. Andrew McFadyen, whose eight-year-old son suffers from MPS, a group of rare genetic disorders caused by the absence or malfunctioning of lysosomal enzymes, grew frustrated with J&J and turned to the Internet to publicize his quest. For more than a year, he had hoped J&J would agree to work with researchers at the Mt. Sinai School of Medicine who found that a J&J drug called Elmiron may offer some hope.
His primary contact at Mt. Sinai is Calogera Simonaro, an associate professor in the Department of Genetics and Genomic Sciences, who recently co-authored a paper showing various improvements in rats given Elmiron, a J&J drug that is approved for treating interstitial cystitis, which is also known as painful bladder syndrome. The two met a few years ago when Simonaro applied for a grant from the foundation that McFadyen created to further MPS research and help his son, Isaac (see photo above).
“She met with (J&J representatives) last spring to present her data to show how the drug worked and she reported back to me that they weren’t interested,” says McFadyen, who hoped J&J would back additional studies, such as testing in larger animals. “Essentially, we were put off. The discussions were not going anywhere. Our researchers and their medical team finally held a teleconference last November, but then, there was no follow up.”
“We spent nearly a year trying to convince J&J that they should (support the MPS research at Mt. Sinai and clinical research using Elmiron). It could save the healthcare industry lots and lots of money. Right now, it can cost $500,000 to $1 million a year for enzyme replacement therapy, which is an imperfect situation,” he says. “But most important, it might increase the quality of life for the children and save a lot of lives.”
Simonaro declined to comment, other than to offer a statement in which she said “we are in discussions with potential partners who have an interest in testing (Elmiron) for MPS in a formal clinical trial setting so that the therapy can be approved and available for use by all patients.” Mt. Sinai, by the way, is obtaining intellectual property rights to use the drug for MPS treatment, according to sources.
There are actually several forms of MPS, which can cause a variety of symptoms, including mental retardation, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a shortened life span. The disease occurs in about one in every 25,000 births, according to theInternational MPS Network.
In other words, this is a rare disease and Fadyen has openly expressed concerns that J&J was not interested in making an investment that called for pursuing years worth of costly research for a treatment for a small patient population, even though orphan drugs are increasingly commanding price tags of $250,000 or more per year for each patient (read this and this).
So last month, McFadyen reached out once again to J&J and received a reply from Steve Silber of the R&D team at Janssen, the J&J unit that sells Elmiron. Silber offered to make the drug available to McFadyen’s son on a compassionate use basis and to work with physicians on a so-called investigator-initiated study (read his letter here). McFadyen responded two ways – he wrote a harsh response that accused J&J of stalling tactics and he created a web site calledshameonjnj.com.
The web site quickly attracted attention not only among those with MPS and their family members, but people who were upset that J&J appeared unwilling to extend its largesse to others. As McFadyen viewed it, J&J was offering only his son compassionate access, which he declined to accept because he believed the health care giant should make Elmiron available to anyone who might benefit. And since J&J released its letter publicly, he placed that and his own reply on the new web site.
“From the very beginning, we have approached Johnson & Johnson about working toward such a study and, time and time again, we were ignored, rebuffed and put off,” he responded to Silber. “Families dealing with this disease are incredibly vulnerable and being caught in the middle of weighing the risks vs. rewards of putting our children on this treatment off label without adequate safety and efficacy data.”
By last week, this very public exchange, which prompted angry parents to Tweet links to the web site and post on a Facebook page as well, was on the verge of giving J&J (JNJ) yet another image headache. The health care giant, you may recall, has suffered a series of embarrassing gaffes over the past three years – manufacturing problems that led to the recall of countless over-the-counter items such as Tylenol and Motrin; courtroom setbacks over Risperdal marketing (seethis and this) and a scandal over the safety of hip implant replacements.
And so, J&J late last week began a counterattack. In response to the sudden burst of negative publicity, Jannsen had its chief medical officer, Amrit Ray, respond to McFadyen in yet another letter. And this time, he made a point of writing that compassionate access would be available to any child and reiterated the offer to support an investigator-initiated study with any physician would be interested in doing so. Ray also maintained that J&J was convening a group of experts to explore the possiblities for supporting MPS research with Elmiron.
“We’re trying to get in the right place to where we can get the right data. It’s not one of the areas where we have a lot of experience,” Ray told us. “There has never been any data to indicate it would help patients.. but we’re eager to understand the data… and we’re certainly open to hearing a proposal. In this case, we would like to get some additional expertise to assess any proposal” from a physician willing to administer the drug. However, he disputed some of the chronology that McFadyen offered about miscues last year for substantive discussions.
Initially, McFadyen responded with skepticism and continued to express concern that experimental usage of the drug poses risks and that J&J should be willing to commit to supporting a regular clincical trial. By the start of this week, though, he had held several telephone conversations with Ray and now tells us he is willing to give J&J a chance to work with families. In fact, he is considering pulling down the shameonjnj web site. “I think the web site achieved its goal,” he says.
“Does this mean that a clinical trial is imminent? The answer is no, we aren’t there yet. But this does mean that a true review of Elmiron by Janssen will be thoroughly conducted by the some of the best minds in the field of MPS, from all over the world,” McFadyen wrote on the Isaac Foundation web site (read here). “We look forward to monitoring the progress of those discussions as we seek to find the best treatment options possible for all of our kids suffering from MPS.”
Whether J&J follows through, of course, remains to be seen. The drugmaker is not under any obligation to fund additional research, although the resources needed to explore the possibilities – with the help of scientific experts who can ballpark the odds of success – are relatively modest. For now, though, J&J has scored a win. In a hurly burly world where just about everything can – and often does – go viral quickly, the health care giant has managed to diffuse a potential crisis. And unless J&J commits yet another blunder and angers MPS families again, this is a rare accomplishment when considering the recent spate of scandals, gaffes and setbacks on so many fronts.
Trent Hills Father Pushing For Cure For His Son
Million dollars needed to fund clinical trial
Trent Hills father pushing for a cure for his son
John Campbell / The Independent
Now he has to convince the drug manufacturer that makes it what he says is true.
Isaac suffers from MPS VI, a rare disease caused by an enzyme deficiency. Research with rats indicates a medication used to treat bladder inflammation could reverse its symptoms, which include stunted growth, stiff joints, heart and eye problems.
A human clinical trial is required to prove the anti-inflammatory oral drug is safe and effective when used to treat MPS VI.
Mr. McFadyen has been urging its manufacturer, Johnson and Johnson, to conduct the trial. He was encouraged when the company said it would make a decision soon, following a conference call last November involving the researcher who discovered the groundbreaking treatment and medical researchers at the pharmaceutical giant.
When he hadn’t received word by mid-January, he sent Johnson and Johnson a note “letting them know time is a luxury our kids can’t afford,” referring to the thousands of children around the world who have MPS in various forms.
Johnson and Johnson said it is looking at how it “can be helpful.”
In a statement issued through spokeswoman Suzanne Frost, the company said: “We empathize with the McFadyen family and all families who face rare diseases.
“A senior staff member in our research and development organization has assembled a team to fully evaluate this situation and determine if and how we can be helpful. He is a physician with extensive experience in drug development for a variety of diseases.”
The company said it gives “careful consideration to many requests for assistance each year. Unfortunately, we are not able to help in every situation.”
Isaac can’t close his hands very well anymore or lift his arms above his head, and his bones are starting to put pressure on his lungs and internal organs.
He recently asked his father about “the new pill” and told him, “‘I just really want to know what it’s like to be like everybody else,'” Mr. McFadyen said. “That was heartbreaking.'”
It was “the push” Mr. McFadyen said he needed to redouble his efforts to raise $1 million for the clinical trial and to get Johnson and Johnson behind Project One Million.
“I can’t live every day just with hope, I need to move forward and see if we can’t get them onboard by any means that we have,” he said. “I’m hopeful they’ll come through.”
Family Day Concert To Combat Bullying
CAMPBELLFORD – Children’s entertainer Andrew “Too Tall” Queen is getting ready for his fourth annual Family Day concert. The first fundraisers were in support of the Kennedy Park Revitalization and the last two years they have been raising funds for the Isaac Foundation.
Andrew McFadyen from Campbellford is the father of eight-year old Isaac, who has a rare enzyme deficiency disease called MPS VI (Maroteaux Lamy Syndrome). He started the Isaac Foundation to support research into ground-breaking treatments, potential cures and also to increase public awareness. There are approximately 10 cases in Canada and 1,100 worldwide. Symptoms of the disease include: stiffening of joints, spinal cord compression, stunted growth, heart and airway disease and a shortened life span. There is no cure at the moment but there is treatment called Naglazyme. It is an Enzyme Replacement Therapy that is designed to provide patients with a synthetic version of the enzyme they are lacking. It is a very expensive and is only available to Canadian patients through the federal government’s Special Access Program.
McFadyen said “We’re touched that Andrew and Karen (his wife) have decided to support our organization again this year,” said McFadyen. “For us to find a cure for Isaac, it’s going to take help from many different people. To have the support of our community really goes a long way to helping us reach our dream of finding a cure.”
Last year’s concert raised around $1,000, a number Queen hopes to surpass this year. The theme for this year’s concert is “Celebrate Friendship and Stand Tall.” The anti-bullying themed performance is really close to Queen’s heart as he remembers being teased as a child. Now as a parent, he can share his own experiences about bullying. Queen recently met fellow teacher and author Heather Rankin who wrote the book All It Takes is One Friend, which is illustrated by students at Earl Prentice Public School in Marmora. “Heather’s book really resonated with me and I shared it with my wife (Karen Stille). A couple of weeks later she had a beautiful new song in the works,” said Queen.
The songwriting duo was very happy with the song and sucessfully submitted it for a recording grant with FACTOR (Foundation Assisting Canadian Talent On Recordings). The song, a duet, is called It Just Takes One. Local singer Janet Jeffery rounds out the recording with her sweet and soulful vocals. Queen and Stille plan to release the single in the spring to coincide with the International Day of Pink on April 10.
“The message of the song is that each of us has the power to stop bullying by standing up and being a friend to someone in trouble,” said Queen. “When bystanders get involved, bullying usually stops within seconds.”
Family Day is Monday, Feb. 18 and the show will begin at 2 p.m. at the Aron Theatre in Campbellford. Queen and Stille will be joined on stage by Luke Mercier on fiddle and Tim Hadley on double bass. Special guests will include Janet Jeffery and, for the first time, a children’s chorus singing backup vocals. Everyone is encouraged to wear pink and/or purple for the event.
Tickets are now available at the Aron Theatre, Kerr’s Corner Books and the Grindhouse Café. Advance tickets are recommended and cost $5 per person or $7 at the door. All proceeds will go to the Isaac Foundation in support of Project One Million. For more information, call 705-632-1616 or visit www.andrewqueen.ca and www.theisaacfoundation.com
The Agonizing Fight for Isaac: The Hope and the Hurdles
Andrew McFadyen lives with the agony of knowing that a ground-breaking treatment for his son’s debilitating disease may be just out of reach.
His son Isaac was born with MPS VI, an extremely rare metabolic disorder. At age 2, Isaac was featured in a Globe and Mail series that led to the Ontario government’s decision to fund Naglazyme, the only available treatment for his disease, which costs an annual $300,000 to $1-million a patient.
But despite receiving weekly injections of the drug, Isaac, now 8, is far from leading a normal life. He is more than a head shorter than other boys his age, and has stopped growing. His hands are clawing up and he is losing mobility in his spine, limbs and joints. He will soon be a candidate for corneal transplants and is at high risk for heart disease and a shortened life.
There is hope. Researchers at Mount Sinai Hospital in New York have come up with an experimental treatment for MPS VI. In a study published January in the online journal PLoS One, rats with the disease showed remarkable improvement in mobility and other indicators after taking pentosan polysulfate, an anti-inflammatory drug that costs about $7 a pill.
McFadyen helped fund the study as head of the Isaac Foundation, an organization he runs in addition to his job as a schoolteacher in Kingston, Ont. “We fully believe this treatment will work wonders,” he says.
But in the world of rare diseases, the battles never end.
Experimental treatments that work in rats are often ineffective in humans. Researchers do not know whether the anti-inflammatory drug would interfere with Naglazyme in children who depend on it to stay alive. Testing the drug in children with MPS VI would require an adequate number of patients to convince regulators that the treatment is effective, but only nine children in Canada have Isaac’s disease. To recruit enough patients, a human trial would require international co-operation and approval from a variety of health agencies and ethics boards.
The biggest hurdle, however, would be to convince a pharmaceutical company to make a multimillion-dollar investment in research that may have meagre financial return.
Nevertheless, McFadyen is convinced the drug-approval process can be streamlined if he can just get the pharmaceutical industry on board. He notes that pentosan polysulfate has already been proven safe in humans. Johnson & Johnson holds the patent for the drug under the brand name Elmiron, which was approved decades ago as a treatment for interstitial cystitis (an inflammation of the bladder).
McFadyen has spent the past six months lobbying Johnson & Johnson to fund clinical trials in patients with MPS VI. So far, the company has made no commitments. “They promote themselves as being humanitarian driven,” McFadyen says, “and here they are, sitting on a product that is having dramatic, earth-shattering results in the lab.”
Julian Raiman, a specialist in MPS diseases at the Hospital for Sick Children in Toronto, confirms the findings from the rat studies are promising.
He says the current treatment, Naglazyme (and other forms of enzyme replacement therapy), may decrease the rate of decline in many MPS patients but does not treat the inflammation of the musculoskeletal system associated with MPS disorders. The rat study suggests the anti-inflammatory drug may prove effective for various forms of MPS and other lysosomal storage diseases. The question, Raiman points out, is “can that be mirrored in humans?”
Only clinical trials can tell.
But Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, says she doubts Johnson & Johnson “will ever put up money for this trial.”
Later this year, Canada will adopt a regulatory framework to spur new treatments for orphan diseases, she notes. But even so, it would take a multimillion-dollar investment and at least six years to have Elmiron approved for a new indication, she says. Meanwhile, the company’s patent on the drug is running out.
Johnson & Johnson declined an interview request but provided a statement: “A senior staff member in our research-and-development organization has assembled a team to fully evaluate this situation and determine if and how we can be helpful,” it says in part. The statement adds, “Unfortunately, we are not able to help in every situation.”
The company’s annual earnings dropped 27 per cent in 2011 to $9.7-billion, but 2012 saw that number climb to $10.9-billion.
Deb Purcell, whose eight-year-old son Trey has MPS II, says it would “unethical” for Johnson & Johnson not to fund a clinical trial. Purcell, who lives in Vancouver, says she has heard parents in the MPS community considering giving their children Elmiron despite the unknown risks. “There are a lot of desperate families out there.”
McFadyen says he fears that if Johnson & Johnson does not test Elmiron as a potential treatment for MPS, competing drug companies will reformulate the inexpensive oral medication as an injection drug that will hit the market many years from now, at an exorbitant price. It wouldn’t be the first time the pharmaceutical industry has profited from rare diseases, he adds.
“Everyone seems to forget that the lives of kids are hanging in the balance,” he says, “and no dollars can ever bring them back.”
A primer on MPS disorders
MPS VI is an extremely rare genetic disorder that affects an estimated 1,100 people in developed countries worldwide. People born with MPS VI (which stands for mucopolysaccharidosis VI) tend to have stunted growth, irregular facial features, restricted movement and breathing problems. Many require heart-valve surgery.
MPS VI shares similarities with other MPS disorders. MPS patients lack a specific enzyme needed to break down long chains of sugar carbohydrates, which build up in the body’s cells and damage multiple organs. One in 25,000 babies is born with an MPS disease.
The MPS disorders, in turn, are part of a larger group of nearly 50 lysosomal storage disorders. Together, LSDs are estimated to affect about 1 in 7,700 births.
ADRIANA BARTON
The Globe and Mail