Foundation Calls For Commitment of Timely and Accessible Outcome for Families

Mt. Sinai Takes Steps To Develop Potential Treatment for MPS I Patients

Foundation Calls For Commitment of Timely and Accessible Outcome for Families 

Isaac Foundation Logo - Red and Blue - Hi-Res copy

On this International MPS Awareness Day, The Icahn School of Medicine at Mt. Sinai announced a partnership agreement with bene pharmaChem to conduct clinical studies on the use of pentosan polysulfate (PPS) in patients suffering from MPS I disease.  With this announcement, The Isaac Foundation is calling on Mt. Sinai and bene pharmaChem to immediately commit to ensuring that such studies take place in a timely fashion and that any marketed treatment is made readily available, accessible, and affordable for children and adult MPS sufferers alike.

Sufferers of MPS 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.

PPS has been shown to reduce the chronic inflammation associated with the majority of MPS cases; inflammation that leads to many devastating physical symptoms for sufferers.  The major research on PPS was completed by Dr. Cologera Simonaro at Mt. Sinai University and supported in part by grants from The Isaac Foundation for MPS Treatment and Research.

The Isaac Foundation has taken an active role in ensuring an in-depth and proper study be conducted on the potential use of PPS as an adjunct therapy for patients suffering from all MPS diseases and has led the advocacy efforts to bring pharmaceutical giant Johnson & Johnson on board to help with such study.  As a direct result of these advocacy efforts, Johnson & Johnson created an advisory panel consisting of the top MPS clinicians and researchers in North America.  This panel is set to meet on May 20th with an aim to look at the data compiled by Dr. Simonaro and thoroughly discuss the potential impact of PPS on the patient community worldwide.

With today’s announcement by Mt. Sinai, Andrew McFadyen, the Executive Director of The Isaac Foundation, wants to ensure that the best interests of MPS sufferers remain at the forefront of any discussion and advancement of PPS as a treatment option.  McFadyen states, “We’re being very cautious about today’s news for a number of reasons.  All along, we have felt the best path forward was through a collaborative and very scientific approach to the current data, especially given the fact that there is already an FDA approved medication, albeit for a different indication, and it is among the least invasive administrations, oral administration.  We received assurances from Johnson & Johnson that their commitment to the study of PPS would always be patient focused, and all decisions made moving forward would be based on a patient-centered model.  Essentially, they committed to moving forward based on best science for our kids and without a marketing and profit-taking strategy.  With this announcement from Mt. Sinai today, we’re calling on them to publicly commit to the same goals.”

In the United States, under the Orphan Drug Act, new treatments for rare diseases receive years of market exclusivity, which leads to the marketing of some of the most expensive drugs on the planet.  McFadyen wants to ensure this doesn’t become the case for any marketed PPS treatment: “While it’s fantastic to see movement on the clinical trial front for these treatments, it won’t do patients any good if the development is lengthy, the administration is burdensome, and the medication is approved and marketed at an unaffordable price point. Reformulation of approved drugs via changes in administration or dosing accompanied by exponential price increases has been seen before. Those are the circumstances we were trying to avoid in seeking to work with Johnson & Johnson and their already approved drug Elmiron®. On just the price point issue alone, for an adjunct therapy (MPS I, II, and VI already have approved high dollar therapies), in Canada, it could come down to fighting Provincial governments to approve yet another expensive treatment, while in the United States it will be up to families to fight with their insurance providers.”

McFadyen sums up his request simply.  “The lives of our kids should never hinge on dollars and cents.  This is why we are calling on Mt. Sinai to commit, in the same manner that Johnson & Johnson did, to ensuring any marketed treatment for our patients is accessible and affordable.  If moving forward is truly and solely patient focused, I’m sure Mt. Sinai would be happy to make such a commitment for our kids.”

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For more information about this topic, or to talk with The Isaac Foundation, please call Andrew at 613-328-9136 or email Andrew at

Johnson and Johnson Update


Numerous times over the weekend, and again late this afternoon, I had the opportunity to have lengthy discussions with Dr. Amrit Ray, the Chief Medical Officer of Pharmaceuticals at Johnson & Johnson. Those discussions proved very fruitful, and I am pleased to report my sincere belief that Janssen Pharmaceuticals is engaged in moving forward in a very real and serious manner with respect to the proper study of Elmiron as it relates to MPS patients.

Janssen has committed to forming a medical advisory panel, and plans to meet with these experts in the very near future. Their aim will be to review current data so they may better understand whether Elmiron might be a candidate for further research in the search for a safe and effective treatment to support children with MPS. This commitment was made and has been followed through on in very short order. I am happy to report that some of the leading experts in the world who specialize in MPS diseases, have already signed on to participate in Johnson & Johnson’s medical advisory panel. In short – this is fantastic news for our kids.

The Isaac Foundation has been communicating with Johnson and Johnson (Janssen Pharmaceuticals) for the better part of 8 months in our ongoing effort to ensure that such a review could become a reality for our children. And while these past 8 months have proved frustrating and stressful, the past few days have restored our true hope that the data presented on Elmiron may lead to a clinical trial in our children in the very near future.

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. 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.

It is important to note that all of your voices have been heard, and we can’t thank you enough for standing up for what you believe in – for standing up for our children. Two short weeks ago, we were at a dead-end with respect to further study of this drug by Johnson and Johnson. Two short weeks ago, hopes were dashed that progress could be made moving forward. But you let your voices be heard, and asked for Johnson & Johnson to live up to it’s Credo Values – values that commit their “first priority is to the doctors, nurses and patients, to the mothers and fathers…”

Working together, your voices united to remind them of those values. After speaking with Dr. Ray late this evening, it is my firm belief that those values will be upheld and that Johnson & Johnson will do everything in its power to put our children first.

Please take a moment to let Johnson & Johnson know how you feel about these latest developments. You can click on the link below to leave them your thoughts, and comment here too, please!

And to leave a message to some of the advocacy groups that spent countless hours working for our kids, please visit their sites below. They did it all – and always had our kids’ best interest at heart.

The Agonizing Fight for Isaac: The Hope and the Hurdles

isaac10lf4Andrew 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.



The Globe and Mail