Who has had world-first clinical trials for Duchenne muscular dystrophy treatment?
[about below articles of ScienceNETWORK WESTERN AUSTRRALIA]
World-first clinical trials for Duchenne muscular
Written by Gina Ravenscroft Monday, 15 August 2011 15:41
A WA pioneered therapy for the devastating genetic muscle disease Duchenne muscular dystrophy (DMD) has shown great promise in world-first clinical trials.
DMD is a severely disabling and progressive neuromuscular disease that affects about one in 3,500 boys and causes premature death
The disease – caused by mutations in the dystrophin gene – results in the dystrophin protein not being made. This protein is involved in protecting muscle fibres from damage.
When dystrophin is missing the muscle becomes easily damaged resulting in inflammation and muscle death and causing progressive muscle weakness.
A method, developed by Professors Steve Wilton and Sue Fletcher of the Australian Neuromuscular Research Institute and The University of Western Australia, enables production of a semi-functional dystrophin protein.
In the study published recently in the medical journal Lancet, DMD patients were treated with intravenous delivery of the gene modifying molecule antisense oligomer which becomes a molecular band-aid to skip over the defective part of the dystrophin gene. This process is termed exon skipping.
Prof Wilton says this is the first study to deliver a therapy systemically to DMD boys.
Systemic delivery is crucial for treating skeletal muscle diseases due to the distribution of skeletal muscle across the body and it’s large proportion of the body mass. Because of this, an effective treatment would need to reach all muscles in the body.
“The study is a first to deliver a therapy systemically to Duchenne boys and conclusively shows restoration of dystrophin in boys whose [gene] mutations would be overcome by skipping [the defective segment of the gene]. We’ve shown that even at relatively high doses this treatment is well tolerated,” Wilton says.
Related to DMD but a milder form of the disease is Becker muscular dystrophy (BMD).
BMD results in a shorter but partially functioning form of the dystrophin protein being produced. This is as opposed to DMD which produces no functional form of the protein.
Often remaining mobile until age 16, some BMD patients may be diagnosed in their 60’s and some are able to walk till late adulthood. This could allow restoration of part of a defective dystrophin gene to be a therapy for boys with DMD.
Prof Wilton says that while a few studies to date have treated DMD boys using various therapies with the aim of restoring production of the dystrophin protein, none have been able to demonstrate such significant levels of dystrophin after only a short term of treatment.
“This study is extremely encouraging and must now be extended.”
Comments (7)
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written by shuokat khan, August 15, 2011
My friend's son is 11 and last year he become wheelchair bound and he is getting weaker and weaker day by day, so studies like this may have a hope for boys like him and his parents as well. I wish and pray that our scientists and doctors find a way for treatment of DMD so we dont lose our young boys
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written by Amanda Petroski, August 21, 2011
It is very encouraging to see studies that aim at treatment for DMD. My cousins were both diagnosed they are now in their late teens and early twenties. There are many that do not know the extent of this disease, it is awesome to see that there is still an interest in making the lives of families with DMD diagnosis better.
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written by George Brown, August 22, 2011
Having known a number of young boys with this disease, through friends and work at PMH, it is great to see some headway being made in the reduction of the amount gross of gross motor disability.
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written by Prof. Dr S V S Verma, ARS Retd., September 08, 2011
Dear Prof.Wilton and Prof.Fletcher,
With my heart,I wish to snetch this opportunity to congratulate yourselves on the sincere efforts put in towards presenting to the world a long-awaited therapy that hopefully proves dependable in extending a meaningful life to millions of disable boys unfortunately suffering with the dreaded disease DMD.And,in the process,the therapy will bring in respite to their parents/other family members too.
Sir,like many on the globe,I am also facing the agony in that my gr.son Sidharth has been diagnosed DMD three yrs ago. We are indeed hoping against the time for some respite,and that appears to have come through your efforts.Wish the drug is produced in quantities and reach soon all those affected.
With sincere appreciations for your efforts and best regards,
SVS Verma
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written by Prof. Dr S V S Verma, ARS Retd., September 09, 2011
Congrats Prof.Wilton,Pof.Fletcher and all the team members for inventing a ray of hope to preventing and curing DMD in our boys the world over.The next step is commercial production of the compound urgently for making available to the desperate/needy.
With best regards,
SVSVerma
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written by jesal c patel, December 01, 2011
My son aryan who will be three years old on 19 th december 2011 was diagnoised with dmd his exon 44 is missing and right now i have no clue on whome should we contact regarding his medication
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written by Sonsu kim, January 29, 2012
I'm not a doctor, but one of Korean Buddhist monk, who established WMDROC/World Muscular Dystrophy Removing-Out Center(http://wmdroc.blogspot.com/), because I'have already cured DMD since 1994 and have had experience to cure some types of progressive MD stop, reverse, cure with using my Giwon yin-yang five elements acupuncture way which has been created by myself. I guess that genetic disorder is only belong to a symptom of theses diseases and not belong to a generating cause of MD. Most MD generated from the abnormal roles of organs in human body.
I have post on my blog "How to cure MD", and how can I cure various MD, if anybody interest it concerning with MD, Please check up it.
Comments