Saskatoon family awaits answer on treatment for crippling disease

Three children all suffer from genetic enzyme deficiency that could lead to early death
CBC News Posted: Sep 15, 2015 5:30 AM CT Last Updated: Sep 15, 2015 6:43 AM CT

A family in Saskatoon is waiting and hoping for the solution to a triple heartbreak. Three of the five children suffer from a crippling genetic disease that could kill them.

Muhammad Abdullah, 12, Khadija Amir, 10 and Sara Amir, 8 all have a rare enzyme deficiency called Morquio A Syndrome (also called MPS IV type A).

“Until the age of three to four nobody can judge that there’s anything wrong with them actually,” their father, Muhammad Amir Akhter said. “After that the symptoms appear, and almost every part of the body is affected.”

Without the missing enzyme, cellular waste builds up in the bones, tissues, organs and muscles.

The condition is stunting the children’s growth, twisting their joints, affecting their eyesight and hearing, and making it tough for them to breathe. Two of them use wheelchairs at school.

It’s so rare, it only appears in an estimated one out of every 200,000 to 300,000 children.

Hope placed in costly synthetic enzyme

There is no cure. But a synthetic enzyme called Vimizim could slow or even halt the progression of their disease, and help them live longer.

An advocacy group called the Isaac Foundation said Health Canada approved Vimizim more than a year ago.

Now Akhter and his wife Shazia Amir are waiting to find out if the province will pay the cost, which could be in the hundreds of thousands of dollars each year.

“It’s really hard to wait for the decision,” Akhter said. “You know we are anxiously looking forward to see every day morning, we are looking for any positive response from the government side to get that too, to get started that replacement therapy.”

Health ministry considering compassionate coverage

He said they applied seven months ago. However, Saskatchewan’s Ministry of Health said it only got complete information from the children’s doctor late last month.

It also said the national Common Drug Review made a “Do Not List” recommendation for Vimizim for clinical reasons.

However, the ministry is considering compassionate coverage on a case-by-case basis.

In the case of Akhter’s children, the ministry has sent their requests to an out-of-province specialist for review and advice.

If they are turned down, Akhter said he will consider moving the family to another province that is willing to pay for their treatment. The Isaac Foundation said Ontario and Quebec have reimbursed patients for Vimizim.

FOR IMMEDIATE RELEASE – SASKATOON SIBLINGS AWAIT FUNDING FOR LIFE-SAVING TREATMENT

Children Diagnosed With Ultra-Rare Condition; Treatment Already Being Funded In Ontario and Quebec

(Sept. 14, 2015) The Saskatchewan Ministry of Health is currently considering an application for exceptional funding of a life-sustaining treatment required by three siblings from Saskatoon. 8 year-old Sara Amir, along with her siblings Khadija, 10 and Muhammad, 12 have been diagnosed with Morquio Syndrome, and all three require the life-sustaining treatment immediately in order to halt further progression of this devastating disease. The Saskatchewan Ministry of Health received their application to begin treatment with Vimizim, an enzyme replacement therapy approved by Health Canada in July 2014, seven months ago. A review of the application has just been initiated and a decision is expected in the coming weeks.

The children suffer from a rare enzyme deficiency called MPS IVA (also known as Morquio A Syndrome). Sufferers of Morquio Syndrome 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, impaired mobility, shortened stature, and premature death.

While there is no known cure for Morquio Syndrome, a treatment does exist. Vimizim 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. The treatment slows down or halts the progression of the disease in patients, improves endurance, walking distance, breathing problems, and provides other benefits to sufferers that dramatically improve their quality and length of life. International experts and a Canadian Panel of Genetics Specialists have all recommended Vimizim as the front-line treatment for Morquio Syndrome. It was approved by Health Canada in July 2014, and has been reimbursed for use by patients in Ontario and Quebec. Recently, the National Institute for Health and Care Excellence (NICE) recommended reimbursement for all patients suffering from Morquio Syndrome throughout the UK.

Andrew McFadyen, Executive Director of The Isaac Foundation, an advocacy, research, and family support organization that specializes in MPS related diseases, is urging Health Minister Dustin Duncan and Premier Brad Wall to expedite their decision so the children can get the immediate help they need. Since the application was submitted in March, McFadyen has met with Minister Duncan twice to present all of the expert opinion and Canadian and International data that exists regarding the treatment. “Minister Duncan has been privy to all opinions and guidance from the best medical minds across the globe. All of them have recommended this treatment for these kids and I’m confident that a positive decision will be returned in a speedy fashion.”

Though hopeful of a positive outcome for the family, McFadyen can’t help but feel frustrated by the length of time it’s taken to render a decision. “The Minister has had this file for over 7 months, and the initial request for therapy was submitted 19 months ago. Saskatchewan already pays for every other available treatment for MPS Diseases – MPS I, MPS II, MPS VI. This treatment does the exact same thing – saves lives. With the UK and the US already ensuring access to this treatment, there is ample evidence available to help them with their decision. We’ve given them everything they need – it’s time to take action and save these kids.”

Jamie Myrah, Executive Director of the Canadian MPS Society, a national patient association that serves those affected by MPS and related lysosomal diseases, couldn’t agree more. “The Canadian Expert Panel and the International Guidelines for treating Morquio A Syndrome both call for treatment to begin as soon as possible to stave off the devastating effects of this disease. With every day that passes, the chance that irreversible symptoms will appear increases. I am hopeful that the Saskatchewan government won’t allow bureaucracy to have a negative impact of the lives of these children and am therefore confident that a positive decision will be returned soon.”

Myrah and McFadyen both note how impactful the treatment has been for patients already receiving therapy in Canada and in most other developed countries throughout the world. Myrah states, “We are seeing kids improve dramatically because of this treatment – kids’ internal organs reducing back down to a normal size, rates of growth increasing, heart function improved, walking distance increased and the use of mobility aids reduced. Until recently, only supportive care that treats the symptoms of the disease was available to patients, including medication, multiple surgeries, and ongoing occupational and physical therapy. By delaying access to the first and only pharmaceutical treatment option available, governments are leaving patients dependent on supportive therapies that do not address the underlying cause of this severely debilitating disorder. We know this works and we know it changes lives.”

McFadyen adds “We have a video of a 17 year old girl prior to starting treatment and she can’t walk more than 10 steps without having to stop. She’s in agony and it’s heartbreaking to see. After 12 weeks on therapy, she’s happy and walking long distances normally. I’m hopeful we can ensure the same opportunity is given to the Akhter children. It’s the role of government to protect and ensure fair and equitable access to Health Care for all Canadians –regardless of whether they are suffering from a rare disease or not – and we’re calling on this government to take action and save the lives of these children now. They can’t afford to wait.”

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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.

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NICE draft guidance conditionally recommends elosulfase alfa (Vimizim) for treatment of very rare life-limiting genetic disorder

In further draft guidance as part of its Highly Specialised Technologies Programme, NICE has provisionally recommended Elosulfase alfa (Vimizin, BioMarin Pharma) for the treatment of a very rare inherited lysosomal storage disease, if specific conditions are met.

Elosulfase alfa treats mucopolysaccharidosis type IVa (also known as MPS IVa and Morquio A syndrome), an extremely rare – it affects around 88 people in England – but life-limiting disease. People born with the disease lack an enzyme – N-acetylgalactosamine-6-sulfatase – that breaks down large sugar molecules (glycosaminoglycans) the body’s cells can’t use. The resulting accumulation of glycosaminoglycans in the cells of tissues and organs causes a wide range of symptoms that typically appear in early childhood and worsen over time. These include joint and skeletal abnormalities, hearing and vision loss, heart valve disease, pain, fatigue, and progressive loss of endurance leading to increasing dependence on wheelchairs.

MPS IVa leads to reduced life expectancy – the average life expectancy in people with this condition is about 25 years – primarily because of respiratory failure and heart problems (63% and 15% of deaths respectively).

Elosulfase alfa is an enzyme replacement therapy consisting of the N-acetylgalactosamine-6-sulfatase enzyme. It replaces the enzyme lacking in people with MPS IVa.

Commenting on the draft guidance, Professor Carole Longson, Director of the Health Technology Evaluation Centre at NICE, said: “MPS IVa is a serious condition that severely affects both life expectancy and quality of life. We are therefore pleased to be able to provisionally recommend elosulfase alfa as a treatment option for people with this condition.

“After considering the comments received as part of the consultation on the previous draft guidance, as well as the testimony of patient and clinical experts at its recent meeting, the independent Evaluation Committee felt that, although elosulfase alfa improved some aspects of health compromised by the disease, and that health and quality of life improved significantly in some patients after treatment, the magnitude of overall long-term benefit offered by elosulfase alfa was uncertain.

 “The drug is very expensive – the average cost per year for elosulfase alfa is £394,680 per patient based on the list price; although a confidential discount has been offered by the company as part of a patient access scheme. Overall, although the Committee was satisfied that there was sufficient evidence that some patients did well on elosulfase alfa, further exploration of its benefits and costs in routine clinical practice were needed.

“The Committee concluded that the company, clinical and patient experts and NHS England should make arrangements, as part of a managed access agreement, to generate evidence on the use of elosulfase alfa for treating MPS IVa through research and collection of ‘real-world’ data directly relevant to patients in the UK, including continued support of the MPS IVa registry. The Committee also felt that a protocol for starting and stopping treatment with the drug for clinical reasons should be developed.”

Before elosulfase alfa became available there was no treatment for the underlying disease. Because the condition is so rare and the symptoms so diverse, there is no standard treatment or pathway of care. Management may include surgery for skeletal problems, respiratory support, drugs to manage heart disease, dental and eye care, pain relief, and hearing aids and ventilating tubes to manage deafness and middle ear effusions.

NICE has not yet issued final guidance to the NHS; these decisions may change after consultation. Consultees, including the company, healthcare professionals, patient/carer organisations and members of the public are now able to comment on the preliminary recommendations which are available for public consultation until midday on 23 September. Comments received during this consultation will be fully considered by the Committee at its next meeting in October. 

Ends

For more information call the NICE press office on 0300 323 0142 or out of hours on 07775 583 813.

Notes to Editors

About the draft guidance
  1. The draft guidance on elosulfase alfa will be available on the NICE websitefrom 00:01, 2 September 2015. Embargoed copies of the draft guidance are available from the NICE press office on request.
  2. The draft guidance states:

1.1 Elosulfase alfa is recommended within its marketing authorisation, as an option for treating mucopolysaccharidosis type IVa (MPS IVa) only in the context of a managed access agreement, and provided that the company makes elosulfase alfa  available with the discount agreed in the patient access scheme.

1.2 The Committee recommends that the managed access agreement must include, as a minimum:

  • A protocol that sets out the clinical criteria for starting and stopping treatment with elosulfase alfa.
  • Assurance from the company that it will collaborate with relevant patient organisations and NHS England to collect the data set out in Section 5.7 in the UK and continue to support the MPS IVa registry. The data will be used by NICE to inform a review no more than 5 years after publication of the guidance.
  • Agreement between the company and NHS England to set the total costs of elosulfase alfa during data collection, which is in addition to the discount in the patient access scheme, to manage financial risk.
  • Agreement between the company and NHS England that ensures patients started on elosulfase alfa during the managed access agreement should be able to continue treatment until they and their NHS clinicians consider it appropriate to stop.

About elosulfase alfa

  1. Elosulfase alfa (Vimizim, BioMarin) is a recombinant form of the human N‑acetylgalactosamine‑6‑sulfatase enzyme. It is intended to replace the enzyme lacking in people with mucopolysaccharidosis type IVa (MPS IVa). Elosulfase alfa has a marketing authorisation in the UK for treating MPS IVa in people of all ages. It is given by intravenous infusion, over 4 hours, once a week. The recommended dosage is 2 mg/kg body weight each week, and is anticipated to continue lifelong.
  2. Elosulfase alfa is available in 5 ml vials containing 5 mg of elosulfase alfa, at a net list price of £750 per vial (excluding VAT). NICE estimates that the average cost per year for elosulfase alfa is £394,680 per patient (based on the recommended dosage of 2 mg/kg/week and an average body weight of 25.3 kg). It is estimated that up to 77 people may want to have treatment with elosulfase alfa; the cost of elosulfase alfa could amount to £30 million per year for treating this many people.
  3. The company has proposed a patient access scheme, in which elosulfase alfa would be provided at a discounted cost; the discount is commercial in confidence.

About NICE

The National Institute for Health and Care Excellence (NICE) is the independent body responsible for driving improvement and excellence in the health and social care system. We develop guidance, standards and information on high-quality health and social care. We also advise on ways to promote healthy living and prevent ill health.

Our aim is to help practitioners deliver the best possible care and give people the most effective treatments, which are based on the most up-to-date evidence and provide value for money, in order to reduce inequalities and variation.

Our products and resources are produced for the NHS, local authorities, care providers, charities, and anyone who has a responsibility for commissioning or providing healthcare, public health or social care services.

To find out more about what we do, visit our website:www.nice.org.uk and follow us on Twitter: @NICEComms.

Petition – Quebec Funding for Vimizim

Hi Everyone,

Sorry for the delay in posting, I’ve been on the road non-stop meeting with patients and families, and working hard to ensure that reimbursement for treatments for rare diseases is forthcoming for everyone that needs it through this country.

I wanted to share a petition, with hopes you can drop in to sign. It only takes a moment, and the voice you add in that moment can make an incredible difference.

This is a french petition, asking the government of Quebec to fund access to Vimizim for patients with MPS IV. Below is a rough translation for English speaking visitors:

Why it matters

VIMIZIM is a drug that already allows multiple people with Morquio syndrome to live a full life with dignity. INESS has refused reimbursement of the drug, which is too expensive for people to access without help. In Quebec, there are many families in need of this treatment in order to participate fully in society.  Furthermore, administered at a young age , this treatment can drastically change the life of a child, or even save his life.

Please visit and sign the petition here!

Thanks in advance,

A.

BREAKING NEWS! TREATMENT APPROVED IN ONTARIO!

TREATMENT APPROVED! ONTARIO CHILD FIRST TO RECEIVE PROVINCIAL FUNDING/REIMBURSEMENT FOR VIMIZIM!

We have some very exciting news to share. A few months ago, we told you about little Ayub and our quest to have his treatment approved by the Ontario Government.

I’m thrilled to announce that Ayub will be the first person in Canada to receive full reimbursement for VIMIZIM, a new therapy approved by Health Canada in July and the first and only front-line treatment for Morquio A Syndrome (MPS IVA). This will greatly impact Ayub’s quality of life, and I’m proud to have played a small role in ensuring approval was forthcoming for him.

I’ll post some updates once treatment begins, and will continue working and advocating for the rest of the patients across Canada who need access to this therapy.

New Diagnosis in Ontario

IMG_20140911_133205This beautiful little boy, Ayub (almost 3 years-old) was just diagnosed with MPS IVA (Morquio A Syndrome) today in Ontario. There is #HOPE for him because the treatment he needs has been approved by Health Canada. The only thing preventing him from beginning treatment ASAP is, once again, the issue of Provincial Reimbursement by the Ontario government.

We will be working hard to help Ontario gather the information needed so they can make the right decision for Ayub and his family, and we will do whatever we can to ensure that treatment begins ASAP!

Meeting With Heather Forsyth

Just a quick update…

I’m in Calgary meeting with Wildrose MLA Heather Forsyth.  Heather is the official opposition Health Critic, and one of (of not THE) best Health Critic in Canadian politics.  Heather works to do what’s best for Albertans, and has advocated for our kids suffering from rare diseases for a long time.

Last year, Heather was instrumental to ensuring that Aleena Sadownyk, a little girl from Alberta, received funding for her enzyme replacement therapy (ERT).  Without Heather, I truly believe that Aleena would still be fighting for treatment today.

Heather and I have met numerous times regarding Morquio A Syndrome and the recently approved treatment (ERT through VIMIZIM).  She believes, like us, that reimbursement for this treatment should be approved immediately.

In Alberta, there are 5 cases of Morquio A Syndrome.   With Heather’s help, it is my hope that all of these patients requiring treatment can begin as soon as possible.

Heather and I will stay in touch, and she’ll continue to play a big role in advocating for our patients.  I’m grateful to have her support, and I’m proud to call her a friend.

I’m heading to Edmonton on Monday to meet with PC MLA Stephen Kahn and the head of Pharmaceutical Funding and Guidance in Alberta.   I’ll update more as soon as I can.

 

New Website Launched!

It’s official – we’ve launched!

With the approval of VIMIZIM in Canada, the first enzyme replacement therapy available for Morquio A syndrome, we’ve received many questions from across the country.  Most prevalent among them is “What’s next?”

After speaking with many families, we thought it would be helpful to put together a website with as much information as possible about Morquio A syndrome in Canada, including information about gaining access to treatment throughout the country.

As many of you know, VIMIZIM was approved by Health Canada in early July, 2014.  That approval provided hope for families that they could finally access a treatment for their disease.  Clinical trial results are incredibly promising, and patients need to have access to that therapy as soon as possible.

Read more

CONTACT US AND SHARE YOUR STORY!

We want to hear from you! Send us your story so we can share it with the world. Every person and family battling Morquio A Syndrome has a unique story to tell - one of bravery, resilience, and perseverance. We'll share all stories online here and on our social media feeds!