,

PORTRAIT OF DUCHENNE – REPURPOSING EXISTING DRUGS FOR DMD

Steve J. Winder, PhD

Professor of Molecular Cell Biology, Director of Postgraduate Teaching, Director of External Relations, Department of Biomedical Science, The University of Sheffield, United Kingdom

In this sixth interview of our series “Portrait of Duchenne”, La Fondation La Force talks with Steve Winder, Professor of Molecular Cell Biology, Director of Postgraduate Teaching, Director of External Relations, Department of Biomedical Science, The University of Sheffield, United Kingdom. He has been working on aspects of Duchenne muscular dystrophy (DMD) for more than 20 years. He has worked on this project for the last 3 or 4 years.

 

Why repurpose existing drugs for DMD?

Developing a brand-new drug takes an enormous amount of time, money and effort. Delays and barriers mean that translation of a promising molecule into an approved drug often takes more than 14 years. It is crucial to advance strategies to reduce this time frame, decrease costs and improve success rates. Drug repurposing or re-positioning is one such strategy. This is what Steve Winder and his team of researchers are exploring; in this case, cancer drugs that affect muscle and which may be useful in the treatment of DMD.

 

In the video, Professor Steve Winder answers our questions about repurposing existing drugs for DMD

 

  • Can you explain the process of drug repurposing?

Ok, so repurposing is taking a drug that’s already been approved for clinical use in one disease and working out whether it’s suitable and effective to use in another disease. A good example would be something like aspirin, which you take for headaches because it’s a painkiller, but these days a lot of people also take the aspirin to prevent heart attacks, because it thins the blood. So, the drug has a primary effect, but it also has what I would call a side effect. And sometimes these side effects can be really useful. So, this is what we are trying to do with a series of drugs that might be useful in treating Duchenne muscular dystrophy. So, in this case, it’s cancer drugs, but they have other effects in the muscle, which may be useful for the treatment of Duchenne muscular dystrophy.

 

  • What drugs are you repurposing in your current research?

So, these drugs that we’re working with are a group of anti-cancer drugs that are mostly used to treat chronic myeloid leukemias, which are genetically based leukemias that occur reasonably common. And, the advantage of these drugs is, because the disease, as its name says, is chronic myeloid leukemia, the disease is long-lasting, so the drugs are given for long periods of time, So, they’ve been designed to be well-tolerated or the ones that are in clinical use are well-tolerated and can be given for, you know, 10s of, well, there are examples, certainly, of people being given these drugs for 10s of years. So, from that point of view, if you were going to treat a boy with DMD, it would probably be a life-long treatment, so they need to be well-tolerated, low side effects, and so on. So, these drugs would be particularly suited to that.

 

  • What effect could this approach have for DMD?

So, these drugs are inhibitors of signaling processes in the muscle that are altered when dystrophin is absent. The drug is not going to reverse the disease. If it were to work 100%, it would stop the disease from getting any worse. That’s the best it could do. But if you started treatment early, then obviously, you would preserve most of the muscles for the boys. And they act on inhibiting signaling pathways that are turned on aberrantly in the muscular dystrophy process. So it’s targeting things directly in the muscle that are altered as a consequence of the loss of dystrophin in the muscle tissue.

 

  • How long before this type of treatment is available?

We need to satisfy ourselves in the preclinical stages. So this is working with animal models of the disease, such as the MDX mice that have a mutation in the dystrophin gene, the same as boys with Duchenne muscular dystrophy. But the drugs that we’re testing (must) work as we expect them to work and actually have some benefit in the mouse before we then have the confidence to actually go forward and use them in boys with Duchenne muscular dystrophy in a proper clinical trial.

 

  • How do you envision the future for people with DMD?

In the last 5 years, even in the last 2 years, there’s just been an explosion of new potential treatments for Duchenne: some of which people have been working on for a very long time and others which have really just almost come out of nowhere. So, I think, in terms of potential treatments for Duchenne, they, I think, are looking really, really, really positive. I mean, when I originally started work on this, the prospects for treatment seemed completely bleak and no hope 20 years ago, but now, there’s all sorts of things, different approaches. I am confident, in the next few years, we’ll see real benefits to lots of boys with Duchenne.

 

 

Interesting links

About The University of Sheffield

About drug repurposing for DMD

 

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 Acknowledgements

We thank Action Duchenne, who received us with open arms to conduct a series of interviews.

More information about next event: conference 2017

 

 

 

PORTRAIT OF DUCHENNE – GENE THERAPY AND EXON SKIPPING

Professor George Dickson

 

Professor of Molecular Cell Biology, Royal Holloway University of London

In the third interview of our series “Portrait of Duchenne”, La Fondation La Force talks with George Dickson, Professor of Molecular Cell Biology at the Royal Holloway University of London. He has spent most of his career studying neuromuscular disease and muscle cell biology, contributing to, the first cloning of an intact dystrophin gene, the discovery of the role of cell adhesion molecules in muscle stem cell fusion, the first identification of utrophin and the first description of exon skipping in Duchenne muscular dystrophy (DMD).

Our journey at La Fondation La Force travels the road of discovery with families, researchers, pharmaceutical companies and more. Our mission is finding the best new experimental treatments and the most promising research for children and adults with Duchenne muscular dystrophy (DMD). In November 2016, we went to the 14th Action Duchenne International Conference in London, UK, to meet with the international DMD community on your behalf.  We hope this series of interviews will bring hope and inspiration to Canadian families.

Developing new treatments for DMD

For the past decade, Dr. Dickson’s team has been involved in developing exon-skipping drugs, specifically for exons 53, 45 and 46. They did not work on developing the exon 51-skipping drug eteplirsen  (Exondys 51™; Sarepta Therapeutics Inc.), which is approved for use in the USA, but did contribute to early clinical trials in the UK.  They also work in parallel on developing gene therapy tools called recombinant dystrophin genes.

 

 

In the video, Professor George Dickson answers our questions about gene therapy & exon-skipping drugs.

 

1— Can you explain the basis of gene therapy?

R: It’s really very simple. Many genetic conditions are caused by the damage and, basically, the absence of particular genes. In DMD, it’s the dystrophin gene. Perhaps one way of treating those conditions – one very simple, one obvious way – would be to replace the missing gene with a version which has been created – a functional version that’s been created in the laboratory. That is basically the aim of gene therapy.

 

2— Which treatments are you working on in your laboratory?

R: In the case of Duchenne, we’ve been involved for maybe 10 years now in developing some of these exon-skipping drugs, not exon 51, not the eteplirsen, which has now been approved, but some of the others that are coming through behind for exon 53 and 45 and 46. We have reagents that we’ve developed that are in clinical trial. And, at the same time, we’ve worked on developing the gene therapy tools for DMD– which are called recombinant dystrophin genes, the largest genes that allows us to plan ahead for clinical trial.

 

3— When do you think the damaged DMD gene could be replaced?

R: It’s difficult to say. The honest truth is we have the genes. They are lab-based genes. We have systems to deliver the genes, and we know that the gene therapy is very active in experimental models and perhaps animal models of DMD. Now we have to scale up the process and run clinical trials of that technique in patients with Duchenne muscular dystrophy. Those clinical trials, for example, if they began right now, and we are planning to start very soon with those trials, maybe within the next 12 months, but if they began right now, they probably would take 2 or perhaps 3 years to complete and get the final results from them. So 3 years to test the product and then perhaps another year or 2 years to get official authorization for the new drug, the new medicine, to be used in patients. So in honesty, we are looking 2,3 years, perhaps 5 years ahead. But hopefully the gene therapies will be tested in patients with Duchenne muscular dystrophy well before, that perhaps, within 18 months I would say.

 

4— What is exon skipping?

R: Well, to try and explain it simply: the way the cell works with genes, the gene is actually separated into a number of fragments. You can imagine this like a linear jigsaw puzzle, and these fragments have to be joined together to produce the proper gene product. If there is a change in one of the fragments, which affects the way the gene works, which causes, shall we say, Duchenne muscular dystrophy or other genetic diseases, one potential way is to persuade or induce the muscle tissue to ignore the damaged fragment and join together fragments on either side. Now, a jigsaw puzzle, as you can imagine, if you don’t fit the right pieces together, will not work, so exon skipping is designed to try and ensure that the fragments that are brought together in the gene, avoiding mutation, are functionally active and, basically, that involves a medicinal product, which is a very small piece of nucleic acid, which masks the damaged jigsaw puzzle piece and allows others to come together in a functional way.

 

5— How do you envision the future for people with DMD?

R: My dream, I suppose you would call it that, what I feel we’re all working towards, is a situation, like in many diseases, where a combination of three of four medicines will allow Duchenne to become a disease which perhaps isn’t cured – cured is a difficult word in medicine – but what happens mostly in medicine is that conditions are managed to improve very, very much the quality of life of patients with the illness, with Duchenne muscular dystrophy. So a combination of drugs available to pediatricians to treat boys with Duchenne muscular dystrophy and produce a very significant improvement in their disease and in their quality of life. That would be fantastic, already.

 

 

 

Up next:

Our next portrait: Ellen Welch, group leader biology at PTC Therapeutics talks about ataluren (Translarna™).

To receive the next interview in our series “Portrait of Duchenne”, please subscribe to our newsletter.

 

Acknowledgements

 

We thank the Action Duchenne UK team, who received us with open arms and gave us access to all key speakers at their conference. Because of their generosity, we can spread this hopeful information to the Canadian DMD community.

 

To know more about the Action Duchenne conference:

Logo-Action-Duchenne

 

Special Thanks to Daniel K Cooper and Allain Lagadic

 

Joining forces to contribute to Canadian research projects

Being on the receiving end of a diagnosis of Duchenne Muscular Dystrophy is a very difficult event for parents. Marie-Catherine Du Berger, creator of La Force Foundation knows something about it. The creation of the foundation allowed her to become an “actor” instead of being a spectator of her son Anakin’s illness. Contributing to Canadian research for Duchenne muscular dystrophy has been an integral part of La Force’s mission since the very beginning. Hope lies in science and new treatments.

For their part, Jean-Philippe Morand and his wife, Mélany Ouellet, a Quebec City region family, got on their pedals to get involved and bring their contribution to the DMD community. Their son Victor was initially diagnosed with Becker’s muscular dystrophy. Subsequently, this became DMD, the most severe form of muscular dystrophy. This meant going through two traumas instead of one.

Last Fall, for the fourth consecutive year, the Morand-Ouellet clan organized the Dystrospin. This is a spinning marathon where some participants pedal for up to 10 consecutive hours. In October 2016, Dystrospin partnered with the La Force Foundation to donate more than $12,000 to two Quebec-based researchers: Dr. Jérôme Frenette (OPG) and Dr. Jacques Tremblay (CRISPR/Cas 9). Victor will also get a high-performance “Team Hoyt” wheelchair, which he’ll be able to use to take part in sports. In addition, Jean-Philippe Morand intends to participate in other sports challenges with his son, in order to raise awareness about Duchenne muscular dystrophy.

6K-JFrenette-2017-LR6K-JTremblay-LR

Living with Duchenne muscular dystrophy is a difficult thing. Nevertheless, this contribution to two research projects by families is proof that all difficult situations can lead to positive actions. It’s a gesture of love and courage to hand over this sum, with Victor and Anakin as their inspiration. We hope to bring hope to all families with children with DMD. There is strength in unity: together we can make a big difference.

 

For more information about research project :

PROJECT 1 –Osteoprotegerin (OPG)

Team Centre Hospitalier Universitaire de Québec  about osteoprotegerin (OPG). (read more)

PROJECT 2 – CRISPR/Cas9 (Read more)

Team Jacques Tremblay for «Correction du gène de la dystrophie avec la technologie CRISPR/Cas9». 

 

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To make a donation

PORTRAIT OF DUCHENNE – Gene replacement therapy

In the first interview of our series “Portrait of Duchenne”, La Fondation La Force talks with Dr. Jeffrey Chamberlain, a geneticist at the University of Washington, Seattle, about adenovirus-associated (AAV) micro-dystrophin gene replacement therapy.

Our journey at Fondation La Force travels the road of discovery with parents and friends to find new experimental treatments and the most promising research for children and adults with Duchenne muscular dystrophy (DMD). In November 2016, we went to the 14th Action Duchenne International Conference in London, UK, to meet with the international DMD community on your behalf. We interviewed leading researchers, pharmaceutical company representatives, other foundations, families, children and more! Our new series of blogs about these encounters will bring new hope and inspiration.

 Why start with gene replacement therapy?

This promising therapy is not far from clinical trials. If all goes well, treatment of the first patient will probably begin in the coming year. It directly treats the cause of Duchenne muscular dystrophy (DMD) – a lack of dystrophin in muscle cells. A synthetic form of the dystrophin gene will be injected into the bloodstream and delivered to muscles by an adenoviral delivery system. If it works, muscles will begin to produce the missing dystrophin protein. One single treatment may last for 10 or 15 years, predicts Dr. Chamberlain, but the duration of potential benefits are still unknown.

 

In the video, Dr. Chamberlain answers our questions about gene replacement therapy:

  • What’s the idea behind gene replacement therapy?

The idea behind gene replacement therapies is to develop a synthetic or more of a “normal” version of the dystrophin gene and find a way to deliver it back into the muscles to replace the defective dystrophin gene.”

  • How do you deliver the synthetic gene into the body?

The idea is to make this synthetic gene, put it into a small delivery vehicle, inject it right into the bloodstream and then it just, all by itself, leaks out of the bloodstream and goes to the muscles and starts making the missing protein.”

  • How long will one treatment last?

“The other thing we don’t know is how long this therapy will last for. Our study so far suggested it’s a fairly long-lasting treatment, but it is something that might need to be replaced in 10 or 15 years. By ‘replace’, I mean to do a repeat administration.”

  • What’s the name of this process?

The miniaturized gene that we’ve developed, we call a micro-dystrophin, because it’s so much smaller than the dystrophin. The delivery vehicle is referred to as AAV, which is the name of the virus that it was made from, and together… we usually just refer to it as a systemic vector gene delivery system.”

  • Can gene replacement therapy cure DMD?

“The gene replacement technology will fix the muscles that are there, but an older patient that’s lost a lot of muscles will probably only make a partial recovery, so that’s why I say it’s a little short of a cure.”

  •  What’s the timeline for treatment?

The timing is a little hard to predict, because it depends on a lot of regulatory approval and, you know, getting everything in place and showing the safety, but a lot of that has been done, and Solid GT, I know, is hoping to apply to begin a human trial very soon and, if everything goes well, the first patients will be treated in the next year.”

  • Are you excited about the next steps in development?

“We have something that we think is going to be effective, and we’re very excited to put it to the test.”

 

Who is Dr. Jeffrey Chamberlain?

Dr. Jeffrey Chamberlain has worked on gene replacement therapy for 25 years.

  • He is Professor, Dept. of Neurology, Medicine and Biochemistry, McCaw Endowed Chair in Muscular Dystrophy, University of Washington, Seattle, Washington, USA
  • Author of Duchenne Muscular Dystrophy: Advances in Therapeutics (Neurological Disease and Therapy)
  • Director of the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, Seattle, Washington, USA
  • Scientific Advisory Board member, Solid GT, subsidiary of Solid Biosciences, a Cambridge, MA-based life-science company committed to DMD research

 

Up next:

To receive the next interview in our series “Portrait of Duchenne”, please subscribe to our newsletter.

Our next portrait: Utrophin with Michelle Avery of Summit Therapeutics

 

Acknowledgements

We thank the Action Duchenne UK team, who received us with open arms and gave us access to all key speakers at their conference. Because of their generosity, we can spread this hopeful information to the Canadian DMD community.

 

To know more about the Action Duchenne conference :

Logo-Action-Duchenne

 

Special Thanks to Daniel K Cooper and Alain Lagadic

, ,

Utrophin production might be a good option for people with DMD

Utrophin could potentially replace dystrophin. In people with Duchenne muscular dystrophy (DMD), dystrophin does not function properly. Numerous media outlets have recently reported many exciting developments in the search for new treatments for Duchenne muscular dystrophy (DMD). Science, medicine, and technology are uniting to create significant results. This article is the first in a new series to shed light on promising, experimental treatment options. This first article will feature utrophin production.

What is utrophin?

The human body naturally produces utrophin, a protein, when a muscle is first forming or when a muscle is repairingAs a muscle matures, dystrophin replaces utrophin. However, in people with Duchenne muscular dystrophy (DMD), dystrophin does not function properly.

Utrophin is functionally and structurally similar to dystrophin. Preclinical trials that have stimulated sustained utrophin production have shown that it could potentially replace dystrophin in people with Duchenne muscular dystrophy (DMD). The replacement of dysfunctional dystrophin with functional utrophin might have a highly positive impact on muscle performance.

Summit Therapeutics believes that utrophin may slow or even stop the progression of DMD.

More information: PPMD  –  Wikipedia  – NCBI

What is ezutromid?

Ezutromid is an utrophin modulator.

It is an orally administered, small molecule, experimental drug, in development by Summit Therapeutics.

More information

How does it work?

Ezutromid stimulates the body to sustain production of utrophin.

This experimental therapy has the potential to work in people with all genetic profiles of Duchenne muscular dystrophy (DMD). Given that it doesn’t depend on a specific genetic profile, this treatment may be suitable for 100% of people with DMD.

Clinical Trial

Summit Therapeutics just announced that the first patients have been enrolled into trial sites in the US into PhaseOut DMD. Summit Therapeutics will be making updates about additional US sites and contact details to the clinicaltrials.gov record (https://clinicaltrials.gov/ct2/show/NCT02858362). As a reminder, PhaseOut DMD is a 48-week, open-label (meaning all participants receive ezutromid) Phase 2 trial, is ongoing in the UK and the US. Enrolment of approximately 40 patients continues, and they expect to complete trial enrolment in the second quarter of 2017.

For more information about PhaseOut DMD clinical trial of ezutromid: Utrophin Trials   –  Clinical trials

What’s the regulatory status of ezutromid?

Ezutromid is an experimental drug candidate in Phase 2 clinical trialThe U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have granted Orphan Drug designation to ezutromid. Orphan drugs receive a number of benefits, including additional regulatory support and a period of market exclusivity after marketing approval. In addition, the FDA has granted ezutromid both Fast Track and Rare Pediatric Disease designations.

Recently, Summit Therapeutics Plc applied to the MHRA and FDA regulatory authorities to proceed with the planned extension of PhaseOut DMD for patients currently enrolled in the trial. The extension phase is expected to last until ezutromid either receives marketing approval in relevant countries or its development is discontinued.

In addition to PhaseOut DMD, they plan to conduct a randomised, placebo-controlled trial designed with the potential to support accelerated and conditional approvals for ezutromid in the US and Europe. It is anticipated that this trial would start after positive interim data from PhaseOut DMD.

Summit to Extend Ongoing PhaseOut DMD Clinical Trial of Ezutromid in Patients with DMD: Press Release 

How is ezutromid administered?

Ezutromid is given orally, as a liquid.

Muscular Dystrophy News

A word from the manufacturer

“The Rare Pediatric Disease designation builds upon the Fast Track and Orphan Drug designations, which the FDA has already awarded to ezutromid, recognizing a significant unmet medical need in the treatment of DMD,” says Glyn Edwards, Chief Executive Officer of Summit.

“We plan to leverage these regulatory advantages in the continued clinical development of ezutromid, which is currently in Phase 2 clinical trial called PhaseOut DMD, to bring ezutromid to patients in need as quickly as possible.”

For more information about ezutromid click here

 

To learn more about new treatments you can subscribe to our newsletter here

 

 

The approval process for new drugs

When you’re suffering from a fatal (orphan) disease for which there is no cure, such as Duchenne muscular dystrophy, each year, month, day, hour and second that separates you from a potential treatment is VITAL.

Nowadays, in an era when science and technology are advancing at the speed of light, new forms of treatment for Duchenne muscular dystrophy, about to be approved represent real hope. However, these new forms of treatment must go through an approval process that takes between 2 and 4 years before becoming available to patients.

When rare diseases are involved, patients should absolutely be involved in this process so that it occurs as quickly as possible and that the medication is reimbursed by all provinces across Canada.

Here is a brief overview of the process.

PHASE 1 – OBTAINING THE PHARMACEUTICAL COMPANY MARKETING NUMBER

  • TIMELINE: 1 – 2 YEARS

  • OPTION FOR THE PATIENT:

The patient can access treatment before the end of the process through a special access program, but the treatment is not reimbursed.
See:
http://www.hc-sc.gc.ca/dhp-mps/acces/drugs-drogues/index-eng.php

In Canada, Health Canada is responsible for authorizing the use of a drug. What follows is the process that pharmaceutical companies sponsoring the development of a new drug must adhere to:

Step 1> The developer of the drug submits an application to Health Canada in order to obtain permission to conduct clinical trials in Canada.

Step 2> If the review of clinical trials shows that the drug has a potential therapeutic value that surpasses the risks associated with taking the drug, the pharmaceutical company may choose to submit a New Drug Submission to the HPFB (Health Products and Food Branch) of Health Canada.

Step 3> Submission of a “New drug submission” to the Branch, who performs a thorough review of the information submitted.

Step 4> If findings reveal that the benefits outweigh the risks, the Branch issues a Notice of Compliance and a Drug Identification Number (DIN) which allows the company to market the drug in Canada.

 

PHASE 2 – PROCESS LEADING TO THE REIMBURSEMENT OF TREATMENT

(After obtaining the “DIN” marketing number)

Let’s now look at how things work in the provinces and territories. First, it’s worth mentioning that each province and territory in Canada has a drug reimbursement system of its own.

Process for QUÉBEC

TIMELINE: ONE YEAR (approximately)

OPTION FOR PATIENTS:

One can make an exception request that provides for reimbursement of treatment on an individual basis.

In Québec, this process is governed by the INESSS (National Institute of excellence in health and social services).

Step 5> The pharmaceutical company files an application with the Institute (INESSS). Applications for registration of drugs are analyzed by INESSS professionals and by the Standing Scientific Committee. This application can be filed only after obtaining the (DIN).

Step 6> INESSS publishes a Notice to the Minister, that contains recommendations relating to the products evaluated by its department, and explains the reasons for product acceptance or rejection, in accordance with governing legislation.

Step 7> The RAMQ updates the list of insured drugs. The last update took place on February 8, 2016.

END OF PROCESS: TREATMENT NOW AVAILABLE TO PATIENTS

 

PHASE 2 – PAN-CANADIAN PROCESS

In the other provinces and territories, the process is governed by the Common Drug Review Program (CDR) and the Pan-Canadian Drug Purchasing Alliance – PCDPA

TIMELINE: 1 YEAR + … (slightly longer than in Québec)

Step 5> Submission to the CDR. Submissions are necessary for public reimbursement in Canada with any new drug. The CDR submissions affect all provincial reimbursement programs (except Quebec).

Step 6> The CDR conducts a rigorous and objective evaluation of the clinical and economic evidence, and makes recommendations to federal, provincial and territorial government public drug insurance plans, except Québec which administers its own review process (INESSS).

Step 7> After the drug review, the CDEC (Canadian Drug Expert Committee) may recommend the inclusion of a drug in the participating drug plans.

Step 8> The participating drug plans then make a final decision on the refund policy for this drug: each province and territory (except Quebec) chooses to reimburse patients or not for the drug.

END OF PROCESS

CRISPR-cas9 … Genetic engineering offers real hope of advancement

The year 2015 ended with the announcement of great news for the DMD community. Indeed, the scientific community has been voicing much enthusiasm at the discovery of a genetic engineering technique that will eventually help us with a wide array of things, such as protecting certain endangered species, stopping malaria and curing diseases …!

Genetic “cut and paste”

The event is of such scientific importance that Science magazine awarded the title of a scientific breakthrough of the year to the genetic engineering technology referred to as CRISPR/cas9. La Presse + published an interesting and informative article on the subject in its January 17, 2016, edition.

Derived from a bacterial defense mechanism, a new gene suppression and insertion technique is spreading like wildfire in laboratories everywhere. Thanks to its high targeting accuracy, CRISPR-cas9 is by far the most effective technique to correct DNA defects. It’s described as a “molecular kit” of sorts, a clever and complex toolkit that enables us to perform “cut and paste” operations in the DNA of living things.

This technology basically works as follows:

  1. The CRISPR component – a type of gene sequence found naturally in certain organisms, including viruses – is able to recognize a specific genome sequence, that is to say, go to the place where lies the defect responsible for the disease.
  2. The Cas9 component acts as a pair of scissors and can “cut” in the DNA at a specific location, i.e., where action must be taken.
  3. From here, one can either choose to remove a genetic mutation or insert a fix for the faulty gene.
  4. Using its normal DNA repair mechanisms, the cell will then naturally reattach the strands.

The latest results obtained in mice demonstrate the CRISPR method’s potential for correcting certain genetic abnormalities after birth.

An encouraging step in the fight against DMD

As we know, DMD is the result of an error in the “writing” of the gene responsible for producing dystrophin. In people suffering from Duchenne muscular dystrophy, the dystrophin gene has undergone a genetic mutation: the gene is badly written, the cellular machinery expected to read it cannot do it, and as a result, the protein is simply not produced.

Researchers have undertaken to use CRISPR/Cas9 to remove the mutated part of the gene. By erasing the illegible component blocking the genetic material’s decoding process and introducing a proper genetic sequence, researchers have restored production of dystrophin, which is essential to the proper functioning of the muscle.

In order to spread their molecular kit in all of the body’s cells of the researchers found a way to put it on board of viruses that have a particular attraction to muscle cells. They then injected this mixture into diseased mice. After a few weeks, the muscles of these rodents began synthesizing dystrophin, a substance they were previously unable to produce…

Cautiously excited…

As exciting as the news of this extraordinary discovery is, we are still far from our common goal: it must be kept in mind that testing has only been performed on mice at this time, and researchers warn that the real challenge will be to transpose this in humans and potentially have to deal with an immune response from the patient.

That being said, it will be extremely interesting to see where it takes us!

A few relevant link:

Passeur des sciences

Santé Le Figaro

Utsouthwestern

Santelog

YouthIndependant

Medical news Today

TVA Nouvelles