New LSDP Guideline for MPS-II patients (access to treatment)

28/05/2014 23:12







In May 2013 I wrote about our fight to get our son Christian reinstated on the Australian Life Saving Program (article is provided below). I talked about the unfair and unjust way in which patients with MPS-II was being discriminated against by having treatment withheld on the basis of neurological involvement.
I stated that through our own research my husband and I assessed that the Idursulfase Elaprase treatment for MPS-II guideline was potentially in breach of the Australian Disability Discrimination Act 1992 (the Act) and that was later supported by legal advice we received. We wrote to the then Health Minister Tanya Plibersek requesting she intervene with her department and reinstate our son’s treatment immediately. We made it clear we would stop at nothing to see the Guideline changed so that no other family would suffer the pain we had to endure for 16 months.
The Minister reinstated our son’s treatment and pointed to 'new and emerging evidences' about the benefits of Elaprase for MPS-II patients. The fact is, that in speaking with various metabolic doctors and biopharmaceutical companies, no one can identify the “new evidence” that Elaprase prolongs life. One would actually think that this was the very reason Elaprase was listed on the LSDP in the first place. But also that patients and doctors for years had known it prolonged life.
Whilst for legal reasons we understand the Minister and her Department would never admit liability by acknowledging that a government program was in breach of the Act. We strongly consider that information we provided to the Health Minister and our request for an immediate review was the catalyst for the recent changes to the LSDP Guideline.

We are very pleased to advise that on 14 May 2014 the LSDP revised the Guideline for MPS-II and patients can now access treatment even if they have neurological involvement (an upcoming review of the whole program is expected in the next 12 months)  

A brief summary about the New Guidelines is provided below and for further information visit the LSDP website.


Treatment of MPS II through the LSDP

Australian Government subsidised drug treatment is available

for eligible patients with a confirmed diagnosis of MPS II.

Evidence based decision making underpins access to medicines

made available through the LSDP, as with those subsidised

through the Pharmaceutical Benefits Scheme.

In all the published clinical trials on the efficacy of Enzyme

Replacement Therapy (ERT) of patients with Hunter disease, the

vast majority of patients had the attenuated form of the disease in

which central nervous system involvement was absent or minimal.

The efficacy of ERT in the severe form of Hunter disease has not

been examined systematically. The authors of the Phase II/III trial

concluded that “Patients with the severe form of MPS II treated

with idursulfase would be expected to have somatic stabilization,

but the overall benefit will have to be evaluated depending (on)

the somatic disease burden and rate of progression of the CNS


ERT does not cross the blood-brain barrier and there is no

evidence to support and no expectation that the neuropathic

features will be improved by ERT2,3.

It is often difficult to distinguish between the severe and

attenuated forms of MPS II early in life. Unlike MPS I, there is

no biochemical test that can aid in this distinction. Mutation

analysis may be helpful in this distinction but, in some instances,

it is necessary to wait until the child is older before the severity

becomes clear4.

As the evidence supporting the use of idursulfase in patients with

laboratory proven MPS II without neuropathic involvement was

last updated in 2007, a current review of the evidence is being

undertaken because of new and emerging evidence that treatment

with idursulfase is likely to improve all patients airways, lung

function and range of movement of joints, and therefore the

therapy may prolong their life.

Whilst the review of the evidence is being undertaken, all MPS II

patients, regardless of the severity of their disease, can access

idursulfase through the LSDP if they meet other eligibility



Article below written by Michelle Dierkx in 2013 about the difficulties in accessing Elaprase in Australia 

Hunter Syndrome or MPS-II is a genetic condition which is widely published as having two forms of the disease, 1) The severe form with central nervous system involvement (CNS) and; 2) the attenuated form (attenuated where there is no brain involvement). My question is could the disease be somewhat like Autism where there is wider spectrum i.e. mild, moderate and severe? 

Perhaps the definition should be broadened as my personal experience of hunter syndrome has taught me that no two cases regarding CNS involvements are the same. I will explain further. I am aware that most publications on the disease state that symptoms vary greatly but I believe this is referring to the clinical symptoms. Unfortunately governments are all too happy to category patients into particular groups and discriminate against providing treatment. 

In countries such as Australia if patients are considered to have the severe form of the condition treatment is withheld. Sixteen months ago our son Christian was condemned to an early death sentence when the Australian government removed him from the Lifesaving Drug Program sighting central nervous system (CNS deterioration). We fought for the next year and half and six weeks ago Christian’s treatment was reinstated.

Putting things in perspective, not only had Christian not deteriorated but there should not have been a government program which discriminates against him on the basis of his neurological condition. This we believe to be breaching the Discrimination Disability Act in Australia. 

Even though Elaprase’s manufacturer Shire and its Australian supplier Genzyme recommended that all patients be given access to Elaprase regardless of CNS involvement and had previously raised the issue of discrimination against people with CNS involvement their concerns went unnoticed. And I know there are some that would argue that they are making such recommendation because they want to make more money; but what is a life worth? Without Elaprase most if not all MPS-II patients would be condemned to an early death. 

It is important to understand that whilst treatment is withheld because of CNS involvement, hunter syndrome patients do not die from brain impairment, they die from numerous health complications i.e. severe and chronic lung infections, joint stiffness, and over their lives suffered in severe pain with issues associated with the condition. 

Raising awareness and presenting facts about the issue is important to me not only because I have a child with the condition but I am a sister to three brothers that had the condition.

My brothers have all passed away as a direct result of MPS-II clinical symptoms, however it is important to note that they had no medical intervention, no therapy and Elaprase wasn’t around back in the 80s and 90s so they could not benefit. Yet they did well on their own. They all spoke, had what is considered to be normal intelligence, were toilet trained and could do work around the home. I believe if they had access to Elaprase in their time they would be here today. However, this is not a campaign for my brothers who have past; the point is to show the importance of Elaprase for those patients that would like access and it should therefore be available.

But with the current health policies around access if patients fail their developmental or IQ assessments they would be refused treatment. 

In Christian's case he failed his developmental assessment because he had a severe hearing loss that went undetected for a long time. 

He had grommets installed about 8 months after his hearing loss diagnosis which improved his hearing and it was like a light switch went on inside of him. His teachers reported instant improvements in his behaviours and learning. I started potty training him and was successful within weeks. 
Don’t get me wrong, I am not saying my child do not have any issues. At best Christian’s behaviour can be difficult and hard to manage but his understanding and knowledge of things are astounding. As Christian was diagnosed as having the same mutation as his uncles, I would argue that he does not have the severe form of MPS-IInand is considered to have normal intelligence. However this is hard to clearly identify at this stage.

As someone with so much experience with the disease, I believe all patients should be able to access Elaprase and that's why we fought a successful campaign for Christian. We also decided to add our support to another family that was refused access twice by the health department. We are pleased to announce that they now have been given access to treatment.

What is the next step?

We are working on getting Idulsulfase Intrathecal clinical trial to commence in Australia. This is where treatment is given through the spinal cord to cross the blood brain barrier. I am aware that there are other possibilities that other families are exploring such as bone marrow transplant. However, I am not in favour a transplant at this because I don’t believe there is enough published data to support its effectiveness for MPS-II patients. However the choice is up to parents.

But for me the most favourable option at this stage is Idursulfase Intrathecal IT Trial. I do understand that for patients to qualify or to take part in any clinical trial they need to be getting Elaprase intravenously prior and the longer a patient has to wait to start treatment the harder it is for them to qualify for future studies. 

I am also conscious that conducting a trial in Australia is difficult because there are so few patients. But as I speak to metabolic doctors across the country, there biggest hindrance or concern in commencing a trial is the availability of infrastructure and human resources. However I am determine to push along and deal with those issues as they arrived.   

Obviously, I understand the difficulties but it not good enough as Christian and others like him do not have time to wait. And as I write Christian’s story I am only too acutely aware of the many patients around the world that has been condemned to an early death sentence. My hope is, as people become more aware of this rare disease there will be further pressure applied to governments to change policy and provide more funding for this disease.