Huge Improvement in the Differential Diagnosis of Diseases and More

The biotechnology industry is proving to be the most innovative and the most growing among Wall Street industries. Individual biotech companies’ achievements complement each other. Some are evolving the sequencing of genes and genetic analysis, while others are excelling in designing drugs based on the tremendous amount of facts they are getting on root causes of the diseases and the interaction of proteins. The biotech companies have largely improved their drug discovery, design and development, including clinical trial plans and strategies.

The improvement in many disciplines is ongoing. The results are tremendous achievements towards reaching better prognosis of diseases through advancing the diagnostic  and treatment procedures of chronic and acute debilitating and deadly illnesses. Remarkable improvements are being made in cancers known to have poor prognosis and viral infection such as hepatitis C and HIV/ AIDS infections, the most debilitating and deadly diseases.

While the best is yet to come, we have a lot of good news to report about improvements in the treatment of allergic and inflammatory diseases, asthma, COPD, cardiovascular diseases, neuromuscular diseases and other hereditary and genetic non-hereditary diseases and more.

In the NEWS

Thorough Diagnosis of Duchenne Muscular Dystrophy (DMD)

The news came from BioMarin Pharmaceutical’s (BMRN), which announced the introduction of kNOWyourDuchenne, program. A genetic test designed to identify specific genetic mutations leading to DMD. The program is intended to guide clinicians and caregivers to potential treatments for their DMD patients on a personalized basis. An independent lab director will be in charge of performing the test and interpreting the results.

Duchenne muscular dystrophy is severely debilitating childhood neuromuscular disease. The disease is caused by mutations in the dystrophin gene that results in the absence or defect of the dystrophin protein, which is important in connecting the cytoskeleton of muscle fibers to the extracellular matrix. As a result, patients progressively lose their muscle strength, often rendering them wheelchair-bound before the age of 12.  The disease could affect the respiratory and cardiac muscles and most patients die in early adulthood due to respiratory and cardiac failures. Because the Duchenne gene is found on the X-chromosome, it primarily affects boys.

DMD is, indeed, the most common fatal genetic disorder diagnosed in childhood, affecting the lives of approximately 1 in every 3,500 male births.

Every family with DMD has specific mutations, thus specific treatment that is unique to them. Currently, no genetic test results inform families or physicians of what potential treatments a child might be eligible for based on his mutation.

Through the kNOWyourDuchenne program, BioMarin will provide genetic interpretation and testing services to patients and families at no cost throughout the duration of the program. kNOWyourDuchenne is accessible to eligible Duchenne patients.

“It is important for children and their families with Duchenne muscular dystrophy to know their mutation in order to understand if they qualify for a clinical trial, or to know if they might be candidates for future treatments. Having access to an expert to interpret the genetic test results is critical to determine the most appropriate care,” said Patrick Pallansch, Vice President, Medical Affairs.

To access information about kNOWyourDuchenne and request access to genetic interpretation and testing services, go to or call 1-844-DUCHENNE (382-4366).

Prohost Impression

This test is, indeed, one of the forward steps towards diagnosing diseases on a personalized basis. Two DMD drugs are expected to be FDA approved very soon.

The first is BioMarin drug drisapersen, an exon skipping oligonucleotide, for which a marketing application has been submitted to FDA and EMA for patients with Duchenne muscular dystrophy (DMD) with mutations in the dystrophin gene that are amenable to treatment with exon 51 skipping.     

The second drug developed by Sarepta (SRPT) is called eteplirsen, which is also for DMD patients amenable to treatment with exon 51 skipping.     

Which one of the two drugs would demonstrate better efficacy will be confirmed when the drugs reach the market and are given to qualified patients thanks to the test provided by BioMarin.

Speculation at this time is premature, as eteplirsen is still in early trial on a few patients, while drisapersen Phase 2 trial fell short of replicating mid-phase trial results.

The presence of the BioMarin test, which will hopefully lead to the recruitment of the eligible patients will contribute to confirming which one of the two drugs is better than the other. The better will be the best seller.

We hope both drugs will demonstrate good results.

An important article about important news will be posted today at 3 PM under Today’s Highlights.

Do not miss it!

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