PTC Provides Update on Translarna™

PTC Provides Update on Translarna™ (ataluren) Application for Label Expansion

June 28, 2019 > Original press release <

PTC Therapeutics, Inc. announced that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has completed their review of a proposed indication extension of Translarna™ (ataluren) for the treatment of patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) who are non-ambulatory. While the CHMP adopted a negative opinion of the extension, PTC was informed by EMA representatives that the European Public Assessment Report (EPAR) would be updated to clarify that patients who start Translarna while ambulatory are not required to discontinue treatment after the loss of ambulation.


Translarna is currently indicated for ambulatory Duchenne patients who are over two years of age; the requested extension would have allowed for the inclusion of non-ambulatory patients in the label. PTC plans to seek a re-examination of the procedure within the next two weeks and expects the new examination to last approximately four months. 


Marcio Souza, Chief Operating Officer, PTC Therapeutics, Inc – “While we are disappointed with the current outcome of the label expansion procedure and its impact on non-ambulatory patients with nonsense mutation Duchenne Muscular Dystrophy, we are pleased that patients on Translarna can remain on treatment after the loss of ambulation. We remain committed to work with the CHMP to clarify the open questions and are confident we will be able to demonstrate the pulmonary benefit of Translarna in non-ambulatory patients.”


The clinical data supporting the extension is based on results supporting the positive impact in the Force Vital Capacity (FVC) parameters for patients treated with Translarna in study 019, a long-term, open-label study, and study 025 (STRIDE Registry) when compared to matched natural history controls. This is in addition to currently approved labelling stating that the pharmacokinetics (PK) and safety profiles are comparable between ambulatory and non-ambulatory nmDMD patients and that no dose adjustment is necessary when patients become non-ambulatory. The CHMP opined that the comparable PK might not ensure efficacy in non-ambulatory patients since muscle mass is reduced in this patient group. PTC and members of the scientific community expressed disagreement with this understanding during the oral explanation.

Translarna received the annual renewal of its conditional marketing authorization in June 2019 for nonsense mutation Duchenne muscular dystrophy patients who are ambulatory and two years and over. In addition, in connection with the June 2019 renewal, PTC’s specific obligation for the submission of the results of Study 041, an ongoing clinical trial of ataluren, has been extended to September 2022.


Translarna™ (ataluren) in Canada

Translarna™ (ataluren) has not received marketing authorization in Canada. This treatment must, first and foremost, be evaluated and approved for the Canadian market by Health Canada. To approve a drug, Health Canada must ensure that it meets certain safety, efficiency and quality requirements.

La Force Foundation hopes that Translarna™(ataluren) will be marketed in Canada as soon as possible so that all young patients can benefit.

More about Translarna (ataluren)

Pioneer in the DMD therapy > Watch the Vlog

PolarisDMD Welcomes European Sites!

27 global sites currently open for enrollment

Clinical trial sites in Europe are now open for enrollment in Bristol and Manchester, England; Munich and Hamburg, Germany; Dublin, Ireland; and Gothenburg, Sweden, with additional sites in Europe expected in the coming weeks.

This means that PolarisDMD is now active in 7 countries! The Phase 3 PolarisDMD clinical trial of edasalonexent in Duchenne is enrolling boys ages 4 to 7 (up to 8th birthday), regardless of mutation type, who have not been on steroids for the past six months.


GalaxyDMD, MoveDMD, PolarisDMD?

GalaxyDMD is a recently-launched, open-label extension study. It is designed to collect long-term data in boys taking edasalonexent as they get older and to provide the opportunity to stay on the drug while edasalonexent is in clinical development. All boys in Phase 2 MoveDMD trial will transition to GalaxyDMD once they complete their final visit in MoveDMD, which can often be performed at the same visit. When boys in Phase 3 PolarisDMD trial complete the 12-month trial, they will also have the opportunity to transition to GalaxyDMD. For greater convenience, now that additional sites are open for the Phase 3 PolarisDMD study, there is flexibility for boys who participated in Phase 2 MoveDMD trial to relocate to a site closer to home, if desired. And Catabasis is especially pleased to share that once boys from MoveDMD and PolarisDMD enter GalaxyDMD, their brothers’ ages 4 to 10 (up to 11th birthday) who meet the inclusion criteria are also able to participate in GalaxyDMD and receive edasalonexent! Site visits for GalaxyDMD are once every six months.


The primary outcome measurement in Phase 3 PolarisDMD trial (also called the “endpoint”) is the North Star Ambulatory Assessment (NSAA), which was designed to assess muscle function in ambulatory boys affected by Duchenne. The NSAA consists of 17 different measures similar to activities in daily life, such as standing on one leg or rising from a chair.

About Edasalonexent (CAT-1004)

Edasalonexent (CAT-1004) is an investigational oral small molecule that is being developed as a potential therapy for all patients affected by DMD, regardless of their underlying mutation. Edasalonexent inhibits NF-kB, which is a key link between loss of dystrophin and disease progression in DMD. NF-kB has a fundamental role in skeletal and cardiac muscle disease in DMD. We are currently enrolling our global Phase 3 PolarisDMD trial to evaluate the efficacy and safety of edasalonexent for registration purposes. In our MoveDMD Phase 2 trial and open-label extension, we observed that edasalonexent preserved muscle function and substantially slowed disease progression compared to rates of change in a control period, and significantly improved biomarkers of muscle health and inflammation. Edasalonexent continues to be dosed in the open-label extension of the MoveDMD trial. The FDA has granted “orphan drug,” fast track, and rare pediatric disease designations and the European Commission has given orphan medicinal product designation to edasalonexent for the treatment of DMD. For a summary of clinical results, please visit www.catabasis.com.

Watch this video recorded in November 2016, Dr. Joanne Donovan answers our questions about edasalonexent (CAT-1004)

Learn more about PolarisDMD clinical trial

About Catabasis

Their mission is to bring hope and life-changing therapies to patients and their families. Their lead program is edasalonexent, an NF-kB inhibitor in development for the treatment of Duchenne muscular dystrophy. Their global Phase 3 PolarisDMD trial is currently enrolling boys affected by Duchenne. For more information on edasalonexent and the Phase 3 PolarisDMD trial, please visit www.catabasis.com or www.twitter.com/catabasispharma.

Join Catabasis mailing list > http://www.catabasis.com/patients-families/for-further-information.php


Edasalonexent is an investigational drug that is not yet approved in any territory.


FibroGen receives orphan drug designation for Pamrevlumab

FibroGen Receives Orphan Drug Designation from the U.S. FDA For Pamrevlumab for the Treatment of Duchenne Muscular Dystrophy


FibroGen, Inc. a leading biopharmaceutical company discovering and developing a pipeline of first-in-class therapeutics, today announced that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation for the company’s anti-CTGF antibody, pamrevlumab, for the treatment of patients with Duchenne muscular dystrophy (DMD).

DMD is caused by the absence of the dystrophin protein, resulting in abnormal muscle structure and function and buildup of fibrosis in muscle, which diminishes mobility, pulmonary function, and cardiac function. Constant myofiber breakdown results in persistent activation of myofibroblasts and aberrant production of extracellular matrix (ECM) proteins, including collagens and fibronectin, leading to extensive fibrosis in skeletal muscles.

Pamrevlumab is a fully human monoclonal antibody that inhibits the activity of connective tissue growth factor, or CTGF, a critical mediator in the progression of fibrosis and related serious diseases.


Elias Kouchakji, M.D., Senior Vice President, Clinical Development and Drug Safety – “We are pleased to have received Orphan Drug Designation from the FDA for pamrevlumab in the treatment of DMD. There is a high unmet medical need for patients suffering from this debilitating disease needing a new treatment option. All 21 non-ambulatory DMD patients in our ongoing phase 2 study with pamrevlumab have completed the first 52 weeks of treatment. We are evaluating a number of clinical parameters in this study, including lung function, cardiac function, and upper extremity muscle function, and tissue fibrosis. We look forward to the continued development of this investigational therapeutic.” News release here.


About Pamrevlumab

Pamrevlumab is a first-in-class antibody developed by FibroGen to inhibit the activity of connective tissue growth factor (CTGF), a common factor in fibrotic and proliferative disorders characterized by persistent and excessive scarring that can lead to organ dysfunction and failure. Pamrevlumab is advancing towards Phase 3 clinical development for the treatment of idiopathic pulmonary fibrosis (IPF) and pancreatic cancer. Pamrevlumab has been granted Orphan Drug Designation in IPF, pancreatic cancer, and Duchenne muscular dystrophy (DMD). Pamrevlumab has also received Fast Track designation from the U.S. Food and Drug Administration for the treatment of patients with IPF and patients with locally advanced unresectable pancreatic cancer and is currently in a Phase 2 trial for DMD. Across all trials, pamrevlumab has consistently demonstrated excellent safety and tolerability profile to date. For information about pamrevlumab studies currently recruiting patients, please visit www.clinicaltrials.gov.

Pamrevlumab is being evaluated in ongoing Phase 2 clinical studies for the treatment of idiopathic pulmonary fibrosis, pancreatic cancer, and Duchenne muscular dystrophy.

About Orphan Drug Designation

Orphan Drug Designation program provides orphan status to drugs and biologics which are defined as those intended for the safe and effective treatment, diagnosis or prevention of rare diseases/disorders that affect fewer than 200,000 people in the U.S., or that affect more than 200,000 persons but are not expected to recover the costs of developing and marketing a treatment drug. This designation qualifies the sponsor for various development incentives of the Orphan Drug Act, including tax credits for qualified clinical testing, to advance the evaluation and development of products that demonstrate promise for the diagnosis and treatment of rare diseases or conditions. Orphan Drug Designation can also convey up to seven years of marketing exclusivity if the compound receives regulatory approval from the FDA.

Health Canada has quietly deleted from its website all references to a planned framework for rare-disease drugs that dates back to 2012 and was intended to improve the availability of such drugs in Canada.

Canada is one of the only developed countries without a regulatory framework for rare-disease drugs, also known as orphan drugs.


About FibroGen

FibroGen, Inc., headquartered in San Francisco, California, with subsidiary offices in Beijing and Shanghai, People’s Republic of China, is a leading biopharmaceutical company discovering and developing a pipeline of first-in-class therapeutics. For more information, please visit www.fibrogen.com.

Deepen a few words

CTGF, also known as CCN2 or connective tissue growth factor

CTGF has essential roles in many biological processes, including cell adhesion, migration, proliferation, angiogenesis, skeletal development, and tissue wound repair and is critically involved in fibrotic disease and several forms of cancers. A tissue is defined as the substance made up of cells of the same composition that all perform the same function. Connective tissue primarily serves to support and protect the other types of body tissues. They are located between the organs and constitute a considerable part of the body’s cellular tissue. They are primarily composed of cells, notably fibroblast cells that create another significant component of the body: collagen fibres, which ensure the resistant quality of connective tissue. This tissue also contains a substance called the extracellular matrix in which the cells rest.


Myofibroblasts differentiate, invade and repair injured tissues by secreting and organizing the extracellular matrix and by developing contractile forces. When tissues are damaged, tissue homeostasis must be re-established, and repair mechanisms have to rapidly provide harmonious mechanical tissue organization, a process primarily supported by (myo)fibroblasts.


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Phase 3 PolarisDMD trial of edasalonexent is now open for enrollment in Canada

Catabasis is enrolling boys ages 4 to 7 (up to 8th birthday), any mutation type, who have not been on steroids for at least the past six months.


What is Edasalonexent?

Edasalonexent (CAT-1004 is being developed as a potential foundational disease-modifying therapy for all patients affected by DMD, regardless of their underlying mutation. It is an investigational oral small molecule. Edasalonexent inhibits NF-kB, a protein that is activated by DMD and drives inflammation and fibrosis, muscle degeneration and suppresses muscle regeneration. By inhibiting NF-kB, edasalonexent has the potential to decrease inflammation and fibrosis, promote muscle regeneration, and slow disease progression. Edasalonexent was designed as a stand-alone therapy and may also enhance the efficacy of dystrophin targeted therapies.


Potential bone health benefits of edasalonexent

Why is bone health so important in Duchenne?

Boys with Duchenne are at an increased risk of bone fractures and should be monitored yearly to check for fractures. Early detection is critical. Strong bones are essential to help boys grow taller! Some therapies used to treat Duchenne have an additional negative impact on bone health and can increase the frequency of long bone and spine fractures.

Catabasis believes that edasalonexent has the potential to benefit bone health, which is why they are studying it in their Phase 3 PolarisDMD trial. Because edasalonexent is an NF-kB inhibitor, it has the potential to reduce inflammation and promote muscle regeneration, and that can strengthen bones. Catabasis will perform x-rays and body scans at the beginning and end of the study to check on bone health!


PolarisDMD in Canada

If you’d like to learn more, contact Catabasis at DMDtrials@catabasis.com. Catabasis is also sharing updates on edasalonexent @CatabasisPharma on Facebook, Twitter and Instagram if you are interested in the latest updates. Get the story behind the PolarisDMD experience! – Here


  • Children’s Hospital-London Health Sciences Centre, this site is expected to be enrolling soon
    • Principal Investigator: Craig Campbell
  • Children’s Hospital Eastern Ontario, this site is expected to be enrolling soon
    • Principal Investigator: Hugh McMillian


  • Alberta Children’s Hospital is actively recruiting
    • Principal Investigator: Jean Mah


  • Sainte-Justine Hospital, this site is expected to be enrolling soon
    • Principal Investigator: Cam-Tu Nguyen


Sources and for more information

More about Catabasis: www.catabasis.com

Portrait of Duchenne – edasalonexent cat-1004 – La Force DMD

Blog post La Force

More information about the Polaris DMD trial: Catabasis – Polaris DMD

Phase III Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy (PolarisDMD)



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Sarepta Therapeutics announces positive results from the ESSENCE study

Sarepta Therapeutics, Inc., a leader in precision genetic medicine for rare diseases, announced positive results from its interim analysis of muscle biopsy endpoints comparing casimersen treatment to placebo in the ESSENCE study.

ESSENCE is a global, randomized double-blind, placebo-controlled Phase 3 study evaluating the efficacy and safety of casimersen and golodirsen in patients amenable to skipping exons 45 or 53, respectively.

After soliciting feedback from the FDA, Sarepta conducted an interim analysis for levels of dystrophin protein expression in those patients who are amenable to exon 45 skipping to determine the potential for a New Drug Application (NDA) filing based on dystrophin as a surrogate endpoint. With these results, the Company intends to work toward submission of an NDA for casimersen in the middle of 2019. News release


“We are pleased to see that the anticipated exon skipping after treatment resulted in a statistically significant mean increase of dystrophin protein, as measured by western blot*.” -Professor Francesco Muntoni, University College London

“This is the third exon-skipping agent to have shown a statistically significant increase in dystrophin production, and reinforces our confidence in the exon-skipping approach for treating Duchenne patients with amenable mutations.” -Professor Francesco Muntoni, University College London

“The casimersen results and submission of our application for golodirsen earlier this year further validate our RNA* research engine. If golodirsen and casimersen are approved, nearly a third of the boys and young men living with DMD in the United States could benefit from our RNA therapies. We continue to advance toward our ultimate goal of profoundly improving the lives of as many patients around the world with DMD as possible.” -Doug Ingram, Sarepta Therapeutics’ president and chief executive officer


ESSENCE is a global Phase 3 study evaluating the efficacy and safety of casimersen and golodirsen in patients amenable to skipping exons 45 or 53, respectively. Golodirsen and casimersen rely on the same approach than Exondys 51.

Positive results

The interim analysis found a statistically significant increase in dystrophin production in casimersen-treated participants compared to baseline and placebo. Golodirsen and casimersen rely on the same approach than Exondys 51.

Submitting to the FDA

Based on positive results, the company intends to schedule a pre-NDA (New Drug Submission) meeting with FDA (Food and Drug Administration) US and plans to submit an NDA for casimersen in the middle of 2019.

Key findings from the interim analysis include:

  • Dystrophin protein increased to 1.736%. By comparison, treatment with Exondys 51 was shown to result in dystrophin levels of 0.93% of normal after 180 weeks.
  • A statistically significant difference in the mean change from baseline to week 48 in dystrophin protein was observed between the casimersen-treated arm compared to the placebo arm.
  • A statistically significant positive correlation between exon 45 skipping and dystrophin production was observed.
  • The study is ongoing and remains blinded to collect additional efficacy and safety data.

Sarepta exon skipping therapy

  • Exondys 51 > skipping exon 51 = 13% DMD patients
  • Golodirsen > skipping exon 53 = 8% DMD patients
  • Casimersen > skipping exon 45 = 8% DMD patients

For a better understanding

* The western blot is a widely used analytical technique in molecular biology, immunogenetics and other molecular biology disciplines to detect specific proteins in a sample of tissue homogenate or extract.

* Ribonucleic acid (RNA) is a polymeric molecule essential in various biological roles in coding, decoding, regulation and expression of genes. RNA and DNA are nucleic acids, and, along with lipids, proteins and carbohydrates, constitute the four major macromolecules essential for all known forms of life. Like DNA, RNA is assembled as a chain of nucleotides, but unlike DNA it is more often found in nature as a single-strand folded onto itself, rather than a paired double-strand.

Duchenne muscular dystrophy (DMD) is caused by a lack of dystrophin

Dystrophin is a protein found in muscle cells that, while present in minimal amounts, is crucial in strengthening and protecting muscle fibers. A devastating and incurable muscle-wasting disease, DMD is associated with specific errors in the gene that codes for dystrophin, a protein that plays a critical structural role in muscle fiber function. Progressive muscle weakness in the lower limb’s spreads to the arms, neck and other areas of the body. The condition is universally fatal, and death usually occurs before the age of 30 generally due to respiratory or cardiac failure.

RNA-targeted therapeutics are powerful tools

Humans have about 22,000 genes, which contain the blueprints for producing proteins that perform essential functions in the body.

Proteins are molecular workhorses involved in almost every function in our bodies, and defective proteins often result in disease. More specifically, some diseases may be caused by the over-production of one or more proteins, while other diseases are caused by protein deficiencies.

Proteins are produced in cells, where genes in the DNA are “transcribed” into RNA templates, which are then processed and “translated” into proteins by  the cellular machinery.

RNA-targeted therapeutics direct the cellular machinery involved in making proteins. These drugs can be designed to increase or decrease the production of a protein involved in a disease.

By working at the genetic level, RNA-targeted therapeutics are powerful tools with the potential to address diseases that otherwise could not be treated with traditional small molecule or biologic drugs.

Watch Sarepta video here

What is Exon Skipping

Mutations in the dystrophin gene are one cause of DMD. Most commonly, one or more exons (a portion of a gene) are missing, and the remaining exons don’t fit together correctly. (Think of a zipper that doesn’t work correctly, because teeth are missing.)

Because of this error, cells cannot make the dystrophin protein that muscles need to work properly. Without it, muscle cells become damaged and, over time, are replaced with scar tissue and fat.

To fix the broken genetic machinery, scientists are developing drugs that skip over parts that contain missing or defective exons. In this way, the machine can produce a less defective dystrophin protein, which may improve muscle function in children with exon mutations.

Sarepta investigational therapies in the ESSENCE study use a technique referred to as exon skipping. Skipping a specific exon next to the mutation is intended to allow the body to make a shortened form of the dystrophin protein.


Sarepta Therapeutics, Inc.

Clinical Trials

Biopharma Dive

Cure Duchenne



Idebenone for Duchenne muscular dystrophy

February 25, 2019

Santhera Pharmaceuticals announces results from the SYROS study.


The primary objective of this study was to evaluate the long-term evolution of the respiratory function in patients who maintained treatment with idebenone for up to 6 years compared to their preceding off-idebenone period.


Respiratory Function in DMD

In boys and men with DMD, weakness of respiratory muscles leads to a progressive decline in their ability to move air into/out of their lungs, leading to sleep disturbances and respiratory infections, especially when patients have lost their ability to walk. Studies estimate 55-90% of patients with DMD die from pulmonary complications.

Acute respiratory failure can occur due to:

  • Compromised respiratory dysfunction complicated by mucus plugging and further weakening of inspiratory/expiratory muscles
  • Repeated cases of pneumonia, hospitalizations and intubations

Decreased ability to cough leads to retained secretions and high risk of recurrent respiratory tract infections.


The result of this study, which is consistent with outcomes from the pivotal DELOS study, demonstrated that:

  • Switching to and maintaining long-term treatment with idebenone reduced the annual rate of decline in the forced vital capacity percent of predicted (FVC%p) by 50%. Forced Vital Capacity is one of the tests of lung function. FVC is a kind of forced expiration. (Which reflects the strength of the respiratory muscles)
  • The treatment effect was consistently maintained year-on-year for up to 6 years.
  • These findings are further supported by consistent reductions in the rate of both inspiratory and expiratory respiratory function loss over the same period.
  • Prolonged treatment with idebenone also reduced the risk of important patient-relevant outcomes, including bronchopulmonary adverse events and hospitalizations due to respiratory causes.


“We are very excited to see that the significant treatment effect with idebenone observed in our 52- week Phase III DELOS study is maintained over the long-term. The new findings are highly relevant for DMD patients in respiratory decline who have an urgent need for a therapy to modify the declining course of respiratory function decline and ultimately delay the need for assisted ventilation.” -Kristina Sjöblom Nygren, MD, Chief Medical Officer and Head of Development at Santhera.


About idebenone

Idebenone is a synthetic molecular formula similar to coenzyme Q10. Chemically, it is an organic compound of the family of quinones that can slow the loss of respiratory function.

Mitochondria are specialized structures in the human body that serve as batteries, powering various functions of the cell and the organism as a whole.

Mitochondria produce the energy necessary for the cell functioning through a process called “cellular respiration” which requires oxygen and provides energy. During cellular respiration, some toxic forms of oxygen (called oxygen free radicals) can be produced. These free radicals must be neutralized by other substances to avoid cellular damage.

Idebenone is expected to act as a neutralizer of these toxic forms of oxygen. Thus, idebenone is expected to have an antioxidant effect, and consequently prevent cellular damage.

Idebenone is optimized to dissolve in water and lipids and able to cross the mitochondrial membrane.

Idebenone is a medicine that is under investigation for the treatment of DMD. It has not yet been approved by the U.S. FDA, and the safety and efficacy continue to be evaluated in clinical trials.



Santhera’s Raxone® (idebenone) is authorized in the European Union, Norway, Iceland, Liechtenstein, Israel and Serbia for the treatment of Leber’s hereditary optic neuropathy (LHON) and is currently commercialized in more than 20 countries. For further information, please visit www.santhera.com. Raxone® is a trademark of Santhera Pharmaceuticals.

Santhera has been granted orphan drug designation for Raxone for the treatment of DMD in Europe and the US. The US Food and Drug Administration (FDA) has also granted rare pediatric disease designation and Fast Track designation for idebenone for the treatment of DMD. Furthermore, the UK’s Medicines and Healthcare Products Regulatory Agency (MHRA) designated idebenone as Promising Innovative Medicine (PIM) and as a suitable candidate for entry into Step II of the EAMS process.


About Santhera Pharmaceuticals

Santhera is a Swiss specialty pharmaceutical company focused on the development and commercialization of innovative medicines for rare and other diseases with high unmet medical needs. They are focusing on the development of treatments for neuro-ophthalmological, neuromuscular and pulmonary diseases that currently lack treatment options, such as Leber’s hereditary optic neuropathy (LHON), Duchenne muscular dystrophy (DMD), congenital muscular dystrophy (CMD) and cystic fibrosis (CF).



Santhera’s SYROS Study Shows Long-term Efficacy with Idebenone in Slowing Respiratory Function Loss in Patients with Duchenne Muscular Dystrophy





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New drug for DMD being reviewed by the FDA

Sarepta Announces FDA Acceptance of Golodirsen (SRP-4053) New Drug Application for Patients with Duchenne Muscular Dystrophy Amenable to Skipping Exon 53

Press release here: Sarepta.com


Sarepta Therapeutics, Inc. announced the Food and Drug Administration, Division of Neurology had accepted its New Drug Application (NDA) seeking accelerated approval for golodirsen (SRP-4053) and provided a regulatory action date of August 19, 2019. Golodirsen is a phosphordiamidate morpholino oligomer* engineered to treat those individuals with Duchenne muscular dystrophy (DMD) who have genetic mutations subject to skipping exon 53 of the dystrophin gene.

The company completed its NDA at the end of 2018 as part of a rolling submission and requested priority review, which was granted. The company previously received orphan drug designation for golodirsen.

The study demonstrated statistically significant results in favour of golodirsen on all biological endpoints.

*a phosphorodiamidate Morpholino oligomer (PMO), is a type of oligomer molecule (colloquially, an oligo) used in molecular biology to modify gene expression. 


Doug Ingram, president and chief executive officer, Sarepta: “If approved, golodirsen will serve up to another 8 percent of the Duchenne community, bringing us closer to helping as many Duchenne patients as possible.

We look forward to working with the FDA toward advancing this important therapy and rapidly bringing it to individuals with Duchenne who are amenable to exon 53 skipping.”


What is Golodirsen?

Golodirsen uses exon-skipping technology and works by binding to exon 53 of the dystrophin sequence to exclude, or skip, this part of the sequence. Exon skipping is intended to allow for the production of an internally truncated but functional dystrophin protein.

Positive results

Golodirsen showed potential to treat Duchenne muscular dystrophy (DMD) in a first clinical trial of DMD patients. Press release

Why do we need to skip an exon?

DMD is caused by specific errors (mutations) in the gene that codes for dystrophin. Dystrophin is a protein that plays a crucial role in the function of muscle cells and protects them from damage as muscles contract and relaxes. These mutations in the dystrophin gene lead to a lack of dystrophin protein in muscles. Without enough dystrophin, muscles gradually grow weaker until they can’t move at all, and eventually breathing and heart function are lost.

The condition is universally fatal. Death usually occurs before the age of 30 generally due to respiratory or cardiac failure.




Patient registry demonstrating Translarna™ slows DMD progression

Here’s the latest news from PTC Therapeutics about Translarna™ (ataluren). In a recent press release, PTC announces that Translarna™ (ataluren) slows disease progression in children with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation. Enjoy reading and thank you for sharing these articles within the DMD community.


Analysis of data to date shows Translarna Preserved Ambulation for up to 5 Years Compared to Natural History

The data show that children and adolescents receiving Translarna in the real-world setting are continuing to walk years longer than untreated children and are staying more physically able. A time-to-event analysis for loss of ambulation has shown that patients on Translarna had a median age of loss of ambulation of 16.5 years of age – up to 5 years later than seen with natural disease progression in untreated children. The data were presented as a late breaker at the 23rd International Annual Congress of the World Muscle Society in Argentina.


Stuart W. Peltz, Ph.D., CEO, PTC Therapeutics: “The results from the Registry data are critical because they further substantiate the results observed in our analyses of data from previous clinical trials studying Translarna in Duchenne. Delaying the loss of ambulation is critical to these patients, as it predicts the time to loss of pulmonary function and mortality.”


Dr. Eugenio Mercuri, Professor, Pediatric Neurology, Catholic University: “These initial data are very encouraging because they provide the first, real-world evidence for the impact of Translarna when used routinely, longer term. We are seeing children who have been exhibiting first clinical symptoms of Duchenne at approximately three years of age and yet are still able to walk years after they would normally be wheelchair-bound, which is what matters most to patients and their families.”


Filippo Buccella, an author of the study and Duchenne patient advocate: “Keeping a child with Duchenne walking for as long as possible is crucial not only to maintain independence, but to delay the rapid deterioration that usually follows loss of ambulation, including loss of the use of arms, which are essential for self-care, and respiratory and cardiac complications. As a father to a son with Duchenne, slowing the progression of this devastating disease is vital to maintaining the quality of life for the patient as well as the family.”


About Translarna ™ (ataluren)

Discovered and developed by PTC Therapeutics, Inc., Translarna ™ (ataluren) is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation. A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. The resulting disorder is determined by which protein cannot be expressed in its entirety and is no longer functional, such as dystrophin in Duchenne muscular dystrophy. Read more here.


Ataluren in Canada

At this moment, PTC Therapeutics has not applied for marketing approval with Health Canada, but it has started a conversation with the legislator.


What is a nonsense mutation?

DMD is a devastating disease that is caused by mutations in the dystrophin gene. The mutations vary in nature and account for the deletion, faulty replication, or duplication of parts of the genetic blueprint or code for protein manufacture. In other words, mutations in the dystrophin gene disrupt how protein factories in cells read its genetic code while making the dystrophin protein. The result is the absence of functional dystrophin protein in skeletal and cardiac muscles.

A change in a single base (point) of DNA can prematurely end the translation of a gene into a protein. About 10 % to 15 % of single-point mutations are nonsense mutations. They occur during the reading of messenger RNA (mRNA), which copies the genetic code during the manufacturing process, into protein.


About DMD

Duchenne muscular dystrophy (DMD) is a disease that exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.


More Links

PR NewsWire News Releases

Learn more about ataluren (Translarna™) at www.ptcbio.com

La Force VLOG Pioneers in DMD therapy

For specific updates about ataluren, you can consult and sign in on Duchenne and you




Deflazacort over prednisone/prednisolone?

Here’s the latest news from PTC Therapeutics about Deflazacort (EMFLAZA®). A publication of data in Muscle & Nerve comparing the efficacy and safety of deflazacort and prednisone/prednisolone from the placebo arm of the ACT DMD study has been published in Muscle & Nerve. Enjoy reading and thank you for sharing these articles within the DMD community.


The results demonstrated a clinically differentiated benefit of deflazacort over prednisone/prednisolone in slowing disease progression as measured using physical function endpoints and the time to delay loss of ambulation. Duchenne muscular dystrophy patients treated with deflazacort had notably less decline from baseline in 6-minute walk distance at Week 48 than those treated with prednisone/prednisolone.


Stuart W. Peltz, Ph.D. Chief Executive Officer of PTC Therapeutics, Inc. said:


“This publication supports the benefit of deflazacort in slowing the progression of Duchenne compared to other corticosteroids,”

“The data indicates that deflazacort should be the standard of care for all patients with Duchenne. The availability of deflazacort, a treatment that has the potential to alter the natural history of Duchenne, supports the need for early diagnosis in patients with this disease.”


What is Deflazacort

Deflazacort is a corticosteroid that works through receptors in the body to effectively inhibit inflammation.

Clinical studies demonstrated that Emflaza:

  • delayed the loss of muscle strength of Duchenne patients
  • improved the ability to accomplish tasks related to standing, climbing stairs, to run or walk 30 feet
  • Slowed the loss of muscle strength over time

More on Emflaza.com


Access Deflazacort in Canada

In Canada, eligible patients can ask to receive deflazacort through a Special Access Program (SAP). This Health Canada program enables doctors to prescribe a drug not approved for sale or distribution in Canada to patients with a severe or life-threatening disease that has no other viable treatment.  Special Access Programme


About PTC Therapeutics

PTC Therapeutics was one of the first pharmaceutical companies to develop a treatment for Duchenne muscular dystrophy (DMD). Developing ataluren (Translarna™), a treatment that works on a nonsense mutation in the dystrophin gene took 20 years. When PTC started its research, there was no North Star Ambulatory Assessment (NSAA), a mobility test that measures the results of treatment. The company began with a blank sheet. Its hard work and persistence encouraged other pharmaceutical companies to jump in and investigate new therapies for DMD. More at About PTC (vloglaforcedmd.com)



More interesting link

Ptc Therapeutics announces publication data demonstrating he Clinical Differentiated Benefit of Deflazacort: News Releases (ir.ptcbio.com)

Effects of Deflazacort Versus Prednisone on Bone Mass, Body Composition, and Lipid Profile: A Randomized, Double-Blind Study in Kidney Transplant Patients: Effects of Deflazacort Versus Prednisone (academic.oup.com)

A Comparison of the Effects of Deflazacort and Prednisone Versus Placebo on Timed Functional Tests in Boys with Duchenne Muscular Dystrophy: A Comparison of the Effects of Deflazacort (n.neurology.org)


Negative opinion for EXONDYS® in Europe


Here’s the latest news from Sarepta Therapeutics press release about EXONDYS® (eteplirsen). EXONDYS® (eteplirsen) is designed to treat patients with Duchenne muscular dystrophy (DMD) amenable to skipping exon 51 of the dystrophin gene. Enjoy reading and thank you for sharing these articles within the DMD community.


Sarepta receives negative CHMP opinion for EXONDYS® (eteplirsen) in Europe

Sarepta Therapeutics, Inc., announced that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) had adopted a negative opinion for EXONDYS® (eteplirsen).


Request for re-examination

Sarepta will request a re-examination of the opinion, which will result in the assignment of a new rapporteur and co-rapporteur. The company will also request a Scientific Advisory Group (SAG) on DMD to be called so that neuromuscular specialists experienced with working on treatments for these patients can provide expert guidance and insight into, among other things, the validity of the external controls used and the importance of certain functional endpoints, including, for instance, the relevance of meaningful slowing pulmonary decline in patients with this difficult to treat disease. The re-examination process is expected to be completed by year-end 2018.


EXONDYS® a treatment using the exon-skipping technique

This treatment uses a specific exon-skipping technique to jump over a portion of genetic machinery that produces a non-working, mutated form of dystrophin in children with DMD. It aims to restore the machinery’s ability to read genetic code, so it can produce a less mutated form of dystrophin that works in children with DMD.

The production of partly functional dystrophin may delay muscle destruction and extend mobility in children with this devastating, rare disease. More specifically, Exondys 51 (eteplirsen) triggers the skipping of exon 51, which occurs in 13% of children with DMD.


About DMD

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.


More interesting link:

Please visit: www.sarepta.com

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