WA RESEARCH STEPS TOWARDS CURE FOR DUCHENNE MUSCULAR DYSTROPHY

Thursday 27 August 2009

Acting Health Minister Troy Buswell today congratulated the Muscular Dystrophy Association of WA and Professors Steve Wilton and Sue Fletcher for their success in developing internationally significant research on the path to finding a cure for the most common and severe form of Muscular Dystrophy.

Professor Steve Wilton and his team, based at the Australian Neuromuscular Research Institute (ANRI), have developed a new treatment involving the intramuscular injection of an antisense molecule, a ‘genetic bandaid’ that restores, is safe and effective at increasing the production of dystrophin, the absence of which causes Duchenne Muscular Dystrophy (DMD).

This treatment (‘genetic bandaid’), developed in Perth through the support of the Muscular Dystrophy Association of WA (MDA WA), could benefit a significant proportion of patients with DMD, and has been acknowledged today through a study published in The Lancet Neurology. The Lancet Neurology is the leading specialist neurology journal in the world.

Research partners include the MDA WA, ANRI, University of Western Australia and the MDEX consortium, headed by Professor Francesco Muntoni in the United Kingdom. Vital support has also been received through funding provided by the Western Australian State Government’s Medical Health Research Infrastructure Fund, MDA of USA and the National Institutes of Health USA.

“I commend the vision of the Muscular Dystrophy Association of WA and its long standing support of Western Australian research”, Mr Buswell said.

“It is findings like this, discovered and developed here in Perth, that have international benefits for those diagnosed with Duchenne Muscular Dystrophy and broader neurological disorders. It is a wonderful achievement for Western Australian science.”

“As Chief Scientist of Western Australia, I congratulate Professor Steve Wilton and Professor Sue Fletcher for their pioneering work that has contributed significantly to a report published today in the prestigious journal The Lancet Neurology,” said Professor Lyn Beazley.
“It is extremely heartening to see the research moving towards a cure for DMD, as the result of a UK-based study using human subjects. As a result of the positive outcome of the proof-of-concept study, a clinical trial has been initiated using patients with DMD. The results emphasise the quality of medical research in Western Australia. The research offers the longer term potential to treat other genetic diseases and is a major achievement for Western Australian medical research.”

Professor Steve Wilton, who is also President of the Australasian Gene Therapy Society, added “There is currently no treatment available to individuals diagnosed with Duchenne Muscular Dystrophy, although promising results have been achieved with antisense oligonucleotides.”

“This is really a new form of personalised molecular by-pass surgery and the compound in these first trials will only treat about 13% of DMD cases. With support from MDA WA and MDA of USA, the NIH and the Western Australian State Government we are developing these genetic bandaids to treat DMD boys with different mutations. We are looking at applying this type of therapy to many other neuromuscular conditions for which there are no treatments.”

To support MDA WA in its vision to find a cure for Muscular Dystrophy, please phone (08) 9382 2700 or visit www.mdawa.asn.au for further information.
CONTACTS:

Renae Rutherford
Muscular Dystrophy Association of WA
tel 0438 780 313
email mda@cyllene.uwa.edu.au

Professor Steve Wilton
Australian Neuromuscular Research Institute
tel0417 982 365
email swilton@cyllene.uwa.edu.au

About Muscular Dystrophy Association of WA
The ultimate objective of the Muscular Dystrophy Association of WA (MDA WA) is to find a cure for Muscular Dystrophy and its related conditions, and to make life better for those who have it. The MDA WA fundraises for research into neuromuscular diseases and to provide support for the WA neuromuscular disease community.

The success of the MDA WA over the past 40 years is a direct result of the vision and passion of Professor Byron Kakulas. His strong interest in neuromuscular diseases, in particular muscular dystrophy, has resulted in MDA WA striving to provide those affected by muscular dystrophy and allied neuromuscular conditions with an improved quality of life to enable them to participate fully in their community without prejudice or discrimination.

MDA WA has been a pioneer in the recognition of new clinical entities, accurate diagnosis and prevention. It is estimated, based on the number of cases prevented over the past 40 years due to MDA WA initiatives and research, more than $64 million has been saved and human suffering obviated. The underlying cause of many neuromuscular disorders has been identified and findings published internationally. From the outset, patients and families have been provided with clinical and diagnostic services, support through counselling, and it has been a priority of the MDA WA for the latest scientific advances to be provided to the local community.

About the Australian Neuromuscular Research Institute

The Australian Neuromuscular Research Institute (ANRI), established in 1982 with the support of the Telethon Trust and Western Australian State Government, represents the laboratory arm of MDA WA. The primary aim of the ANRI is to maximise realistic and practical benefits to patients by integrating basic scientific research with ongoing health care and medical training in a sympathetic and supportive environment.

ANRI was the first comprehensive facility with the most modern recombinant DNA C2 C3 laboratory in Australia, comprising of 3,000 square metres of laboratories for research in neuromuscular diseases. Today the ANRI carefully integrates laboratory science, clinical research, drug trials and clinical practices to advance the health of patients with neuromuscular or neurological disorders such as Muscular Dystrophy.

Since the establishment of the ANRI, a tremendous number of scientific advances have been made. The optimism generated by the discovery that muscle could completely regenerate, a phenomenon discovered in the Rottnest Island Quokka, is now being fulfilled with research on the threshold of a curative treatment developed by ANRI scientists in the era of molecular (DNA) technology.


About the MDEX Consortium

The MDEX Consortium led by Professor Francesco Muntoni, is a multidisciplinary enterprise to promote translational research into muscular dystrophies, and is formed by the clinical groups of Professor Francesco Muntoni (UCL Institute of Child Health) and Professor Kate Bushby and Professor Volker Straub (Newcastle University), and scientists from Imperial College London (Professor Dominic Wells), UCL Institute of Child Health (Dr. Jennifer Morgan), Royal Holloway University of London (Professor George Dickson), Oxford
University (Dr. Matthew Wood) and University of Western Australia (Professor Steve Wilton).

In addition, the charities Muscular Dystrophy Campaign (MDC), Action Duchenne and Duchenne Family Support Group also participate in the Consortium. 

letter to little sis

(I hope you don't get eaten by sharks either Fifi!)

The Muscular Dystrophy Association of WA Helps to Save Lives

Our Daily Journey Through The Unchartered Territory of Rare Disease

Rigid Spine Muscular Dystrophy 

Our Current Medical Care Issues:

Since moving back to the US, we have had to make difficult decisions based on the cost-of-care, that has compromised both their short-term and long-term health.  Due to the inflated health insurance premiums we were paying – premiums that provided less than 5% of their daily healthcare needs - coupled with the providers expensive deductibles, co-pays and ‘out of pocket’ fees, major stress and worry for our future has compounded the worry already felt in a home that has two children with a rare disorder.  The compromises we have had to make in the last year may have saved money initially, but ultimately cost more down the road.  For example:  My three-year-old daughter was able to get the RSV shots last winter because of the high risk of respiratory failure the virus posed to her.  Unfortunately, we had to literally turn the deliveryman away at the door upon discovering the cost was $3,300 for three shots.  Her deductable was almost as high, so even with insurance and having the shots ‘approved’, we would have had to pay the full amount ourselves.  My stomach churned at the thought of having to turn the shots down, as my son almost died of RSV when he was three.  Several weeks later, she was admitted to intensive care with Respiratory Failure and was ventilated for two and a half weeks.  The cost was almost her life, and a $100,000 hospital bill.

Our Previous Medical Care Issues:

There is no roadmap for the family or physicians with rare illnesses.

We very quickly became the doctor and nurse to our children.  We have to fight for the care they need and suggest possible treatments because the doctors just don’t know what to do and what to expect.  As young, new parents, our days saw us writing the book on RSMD.   Figuring the disease out, alone, the hard way.  Imagine the worry of seeing a beautiful baby waste away without a clue as to why; Seeing his file put in the too-hard-basket; Living in a dark cloud of fear and worry because there are no answers why and no clue what was to come.

Multiple hospitalisations, traumatic resuscitations and ventilations - our lives became something we could never have imagined.  These beautiful children, with amazing talents and personalities, typical in every possible way other than their bodies refusal to work properly.

It took five years to find a diagnosis and even then, there were no research papers, doctors or specialists that could tell us that our children will most likely die before their prime, or will develop crippling scoliosis as they grow needing multiple spinal surgeries before they even hit their teens.  There are no roadmaps for us or for our doctors.  We have had to write it, map it out, from hard, sometimes near-death experience; through trial and error.   And more recently, through meeting a family who had all four children with the same disease.  I understand that this is the way of rare diseases.  But it is very difficult to live through.

My Hopes For The Future

I used to wonder if my children would be able to marry, have children, lead relatively normal lives as adults.  Even the doctor who knew most about this disease in the world couldn’t answer these questions for me.  I know now.  I know that they may not live long enough, or have the independence, or the strength.  They will hope for it and wish for it though, just like we all do.

I don’t think about this anymore.  Now my thoughts are consumed with how on earth we are going to pay the next hospital bill.  I fret over how we are supposed to pay for their tube-feed supplies when it costs more per day to feed them than the average middle class salary earns.  

I wish I didn’t have to think about this side of things, but it is the reality for us at the moment.  I would like to be thinking about loving them, caring for them, keeping them as healthy and as strong as possible.  I resent the amount of time trying to get them the healthcare they need had been taking me away from them.  I wish for less worry in life, for continued research about this disease and the gene affected and I wish to see them grow up happy and content in their own skins.

Jasmine xox

Muscular Dystrophy Trials Succeed

An international team of researchers including West Australian molecular geneticist Steve Wilton has been recognised for its success in treating boys suffering the devastating muscle-wasting disease Duchenne's muscular dystrophy (DMD). 

The groundbreaking research has been published in the international journal, Lancet Neurology.

DMD is a relentlessly progressive and incurable muscle wasting disorder, and one of the most common serious genetic disorders to affect children around the world. Each year, at least three boys born in Perth will have the disease.

Approximately one in every 3,500 boys worldwide is afflicted with Duchenne's muscular dystrophy, with one third of cases presenting with no prior family history of disease. DMD is a devastating and incurable muscle-wasting disease associated with specific errors in the gene that encodes dystrophin, a protein that plays a key structural role in muscle fibre function and stability.

Symptoms usually appear in boys before the age of six years. At this age, affected boys have difficulty in keeping up with their peers, may appear clumsy and fall easily.  By age 10, boys have difficulty walking, and are confined to a wheelchair by age 12. Eventually, all muscles are affected and patients experience increased difficulty in breathing.

The muscle wasting is relentlessly progressive and death usually occurs before the age of 25. There is currently no effective treatment for DMD, but for the first time in decades, there are a range of promising therapies under development.

Professor Wilton, Head of Molecular Genetic Therapies Group at the UWA Centre for Neuromuscular and Neurological Disorders, said researchers had spent years on pre-clinical work in their quest to find a cure for muscular dystrophy.

This treatment involves the intramuscular injection of an antisense molecule to restore the production of the protein dystrophin, the absence of which causes DMD. 

Professor Wilton said clinical trials in the UK, using a compound developed in Perth for the treatment of DMD, had yielded exciting results.

"It has taken time but we've had success in these human trials in the first attempt. While the trial was not designed to cure anyone, we have shown safety and demonstrated unequivocal proof-of-concept that this form of treatment can work on human DMD muscle. We feel as though we may be able to give hope to some of those families who have been affected by this terrible disease," he said.

"While it is unlikely that we can reverse the effects of the disease in advanced cases, we are much more confident that this 'exon skipping' treatment may reduce the progression of the disease, improve muscle function and quality of life. These results have been so encouraging that the second trials, to deliver the compound throughout the body and aim for therapeutic improvement, started months ago in the United Kingdom."

Earlier this year Professor Wilton and his UWA colleague Research Professor Sue Fletcher were awarded more than $1.2 million in US funding for research into the treatment of the disease.

Professor Dame Kay Davies, a world expert on DMD and Professor of Anatomy at the University of Oxford, has described Professor Wilton's research as "the most important work into a treatment for DMD in the world at the moment."

UWA has also signed an exclusive worldwide licence agreement with US-based bio-pharmaceutical company AVI BioPharma in November last year to a patent related to the treatment of DMD.

Professors Wilton and Fletcher's work on the innovative use of antisense technology to restore dystrophin expression in DMD was showcased in the 5 December 2008 edition of the prestigious international journal Science. 

(Source: University of Western Australia: Lancet Neurology: September 2009)

Cure Congenital Muscular Dystrophy

Cure CMD is a nonprofit 501 (c) 3 advocacy group launched in summer 2008 by 3 parents whose children have CMD.  Cure CMD’s mission is to target research dollars to accelerate the fight towards finding therapies and one day a cure. Each donation to support Cure CMD’s efforts is tax deductible.

 

You can help support Cure CMD today by:

• Join Cure CMD on facebook as a cause. Get 10 friends to join you. We want to build a cause community of 5,000 by December.

• Place Cure CMD on your facebook page as a profile.

• Use Good Search to do internet searches. Go to www.goodsearch.com, choose Cure CMD in charity box. Each internet search gives Cure CMD a penny.

• Be a benefactor for the CMD Family conference in August, $10 donation through Cure CMD website (check or paypal).

• Go to www.curecmd.org to read our stories

 

Your support will allow Cure CMD to reach its 2009 goals:

1. a CMD international patient registry

2. the first Cure CMD research grant for 50K

3. partial funding for first scientific CMD conference, “Therapeutic Targets in the CMDs”, Emory, July 2009

4. funding for CMD Family and Affected Person conference, August 2009, Children’s Hospital of Philadelphia. The conference focus is on advocacy, networking and scientific discoveries to may slow disease progression. This conference presents the first opportunity for many child and adults with CMD to meet someone else with the disease.

 

To help us fund the CMD Family and Affected Person conference:

1. Send us 2-3 vendors that you can contact for funding in your area.  A vendor how-to packet has been put together to make this easy for you. Vendors have been very responsive as they are looking for cost effective ways to expand their market in down economy.

2. Contact friends and family. Be a benefactor ($10 with mention in conference brochure) or sponsor an individual at the conference ($100). 

 

If you have questions or would like a benefactor form and/or vendor packet, contact Trish and Lucinda at info@curecmd.com

 

Thank you for your support,

 

The Cure CMD team

Doing Well....

Isis picked up my camera yesterday and here is the world through his eyes - the eyes of a seven year old... Phoenix was so excited to wake up to her beloved big brother taking a photo of her!

Phoenix is almost entirely recovered from her recent RSV and two week hospital stay. Although, her heart is working a little too hard to help her breathe which is a new concern that I wasn't expecting. We also got our hospital bill - $67,000 - I laughed. It was kindof an evil eye-twitchy laugh, but, better that than a big cry!

Intensive Care, Week Two Update

Dear Family and Friends,

Getting an EKG yesterday

Just a quick update for those who have been asking after Phoenix and for family so far away in Australia...

Phoenix is entering her second week in Intensive Care at Primary Children's Hospital in Salt Lake City today.

She has RSV - Respiratory Syncytial Virus - this is a major cause of respiratory illness in young children. RSV causes infection of the lungs and breathing passages. In adults, it may only produce symptoms of a common cold, such as a stuffy or runny nose, sore throat, mild headache, cough, fever, and a general feeling of being ill (as Candice well knows, having caught it from Phoenix). But RSV infections can lead to other more serious illnesses in premature babies and kids with diseases that affect the lungs, heart, or immune system, like Phoenix and Isis. It quite literally almost killed Isis when he was Phoenix's age.

"Dummy Mummy!!"

RSV is highly contagious, and can be spread through droplets containing the virus when a person coughs or sneezes. The virus can also live on surfaces such as countertops or doorknobs, and on hands and clothing. RSV can be easily spread when a person touches an object or surface contaminated with the virus. The infection can spread rapidly through schools and child-care centers. Infants often get it when older kids carry the virus home from school and pass it to them. Almost all kids are infected with RSV at least once by the time they are 2 years old. 

It is pretty difficult to shield the children perfectly from respiratory virus's, because many are so easy to catch.

With breathing support, Phoenix is more alert

Phoenix has bronchiolitis and pneumonia. She was admitted with respiratory failure. Her oxygen levels were dangerously low when I brought her here and her carbon dioxide and pH were completely out of whack. Her body was beginning to shut down - her heart was working overtime at 180+ beats per minute and she was almost completely unresponsive. 

Phoenix is on full respiratory support that pushes air and oxygen into her lungs - one step down from a ventilator. A bi-pap with oxygen when she sleeps or gets tired, and high-flow prongs with oxygen and air while she is awake - the prongs are progress in the right direction and provide a little less support. has made progress in baby steps, but suffered a set back yesterday when a technician accidently bumped her breathing machine off. Within a few minutes, her oxygen levels desaturated to 51%, she turned blue and grew very lethargic very quickly. It took her all night to recover from that. She will be in here for a while yet.

I was able to talk to the Christensens doctor two days ago - the Christensens are the family who had all four of their children with RSMD. Their doctor has had 27 years experience with this family and Rigid Spine now and it was nice to chat with him. He recommended that we keep an eye on their hearts, particularly the right side that gives blood to the lungs. So Phoenix had an EKG and Echo Cardiogram yesterday.

This morning we discovered that her heart is enlarged, particularly the right side and parts of the aorta, from working so hard helping her breathe for so long. Her increased scoliosis has obviously been having more of an impact on her breathing than we realized. We have to keep a close eye on this. This news was surprising to me because none of the research we had read ever suggested heart difficulties with RSMD. Other muscular dystrophies certainly do... but anyways, it was a bit of a surprise to learn this morning. The last cardiology appointment for the children showed nothing out of the ordinary, so yes, I was surprised by these results. Mind you, Phoenix's scoliosis hadn't begun at their last cardiology appointment.

"I don't like the cough assist machine anymore. I don't like suctioning either.... just let me watch The Little Mermaid and leave me be..."

Phoenix's scoliosis began when she was one. I was sooooo sad the day I noticed it, because she was SO SO SO little and the curve was very noticable. Isis' scoliosis began at four years of age and I guess I was expecting something similar with Phoenix. Phoenix's is already so much more severe than Isis' and I see spinal surgery in the very near future for her... Which makes me very nervous. Surgery has a high mortality rate, especially for little ones with very little blood to lose and muscular dystrophy.

So yes, I get very sad and very worried, even though it looks like I am fine on the outside - I am usually not :) Phoenix has reacted very badly to both anesthetics she has had in the past and I have always quietly thought that we would lose her during spinal surgery. I never imagine she would need surgery so young.

Nick and his family are looking after Isis at home in Logan, to hopefully prevent him catching RSV. He misses Phoenix and me. I am here by Phoenix's bedside morning and night.

I am sorry my news isn't super-good. But I wanted to keep you up to date, especially my family in Australia who can't be here with us now. I miss you guys so much and I love you xoxox

It's a Matter of Soul

"The issue of universal coverage is not a matter of economics. Little more than 1% of GDP assigned to health could cover it all. It's a matter of soul." 

- Uwe Reinhardt

Single-Payer National Health Insurance - what is it?

Single-payer national health insurance is a system in which a single public or quasi-public agency organizes health financing, but delivery of care remains largely private.

Currently, the U.S. health care system is outrageously expensive, yet inadequate. Despite spending more than twice as much as the rest of the industrialized nations ($7,129 per capita), the United States performs poorly in comparison on major health indicators such as life expectancy, infant mortality and immunization rates. Moreover, the other advanced nations provide comprehensive coverage to their entire populations, while the U.S. leaves 47 million completely uninsured and millions more inadequately covered.

The reason we spend more and get less than the rest of the world is because we have a patchwork system of for-profit payers. Private insurers necessarily waste health dollars on things that have nothing to do with care: overhead, underwriting, billing, sales and marketing departments as well as huge profits and exorbitant executive pay. Doctors and hospitals must maintain costly administrative staffs to deal with the bureaucracy. Combined, this needless administration consumes one-third (31 percent) of Americans’ health dollars.

Single-payer financing is the only way to recapture this wasted money. The potential savings on paperwork, more than $350 billion per year, are enough to provide comprehensive coverage to everyone without paying any more than we already do.

Under a single-payer system, all Americans would be covered for all medically necessary services, including: doctor, hospital, long-term care, mental health, dental, vision, prescription drug and medical supply costs. Patients would regain free choice of doctor and hospital, and doctors would regain autonomy over patient care.

Physicians would be paid fee-for-service according to a negotiated formulary or receive salary from a hospital or nonprofit HMO / group practice. Hospitals would receive a global budget for operating expenses. Health facilities and expensive equipment purchases would be managed by regional health planning boards.

A single-payer system would be financed by eliminating private insurers and recapturing their administrative waste. Modest new taxes would replace premiums and out-of-pocket payments currently paid by individuals and business. Costs would be controlled through negotiated fees, global budgeting and bulk purchasing.

http://www.pnhp.org/facts/single_payer_resources.php
Physicians For A National Health Program