Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. It is a multi-systemic condition, affecting many parts of the body, which results in deterioration of the skeletal, heart, and lung muscles.
Duchenne is caused by a change in the dystrophin gene. Without dystrophin, muscles are not able to function or repair themselves properly. Becker muscular dystrophy, which is less severe than Duchenne, occurs when dystrophin is manufactured, but not in the normal form or amount.
Because the dystrophin gene is found on the X-chromosome, it primarily affects males, while females are typically carriers. However, some females can manifest varying ranges of physical symptoms of Duchenne and are therefore called “manifesting carriers”.
Many therapies in development and/or approved for Duchenne are “mutation-specific”, meaning they will only benefit individuals with certain mutations. You must know your mutation in order to participate in a clinical trial and to access any current or future mutation-specific therapies. If you’ve never had genetic testing or if you need repeat genetic testing, PPMD is able to provide free genetic testing to eligible individuals through our Decode Duchenne program.
What is the Program?
Decode Duchenne provides diagnostic testing for Duchenne and Becker muscular dystrophy. Decode Duchenne is a Collaborative partnership between Parent Project Muscular Dystrophy (PPMD), Sarepta Therapeutics and other industry partners, and Revvity Omics.
Since 2013, PPMD has been proud to offer free genetic testing, counseling support, and education through Decode Duchenne. Decode Duchenne offers free genetic testing to people in the Becker and Duchenne muscular dystrophy community who otherwise would be unable to access genetic testing. For asymptomatic carrier testing, please visit PPMD’s website and submit an application.
You can also access free genetic counseling support for Duchenne and Becker muscular dystrophy at PPMD at 888-520-8675 (option 1) or emailing [email protected].
For Health Care Professionals already familiar with Duchenne and Becker muscular dystrophy, feel free to use the links below to order a kit or submit a sample.
The Decode Duchenne program is for individuals with:
A known or suspected diagnosis of Duchenne or Becker muscular dystrophy* or an elevated CK level.
If you suspect Duchenne or Becker muscular dystrophy due to a positive family history, please call 888-520-8675 or email [email protected] to ensure appropriate testing is ordered. Decode Duchenne may be unable to provide payment for incorrectly ordered genetic tests.
*This portal is not appropriate for carrier testing. If you are interested in carrier testing for a patient, please click here.
Ship DBS card, test requisition form, and consent form as soon as test strip is fully dried to Revvity Omics.
Duchenne is a fatal genetic disorder that slowly robs people of their muscle strength. Parent Project Muscular Dystrophy (PPMD) is the largest most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne muscular dystrophy—our mission is to end Duchenne. We invest deeply in treatments for this generation of people affected by Duchenne and in research that will benefit future generations. We advocate in Washington, DC, and have secured hundreds of millions of dollars in funding. We demand optimal care, and we strengthen, unite and educate the global Duchenne community. Everything we do—and everything we have done since our founding in 1994—helps people with Duchenne live longer, stronger lives. We will not rest until every person has a treatment to end Duchenne. Go to www.ParentProjectMD.org for more information or to learn how you can support our efforts and help families affected by Duchenne. Follow PPMD on Facebook, Twitter, and YouTube.
EXONDYS 51® (eteplirsen) is an exon-skipping therapy developed by Sarepta Therapeutics for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation in the DMD gene amenable to exon 51 skipping. This therapy uses Sarepta’s proprietary phosphorodiamidate morpholino oligomer (PMO) chemistry to bind to exon 51 of dystrophin pre-mRNA, resulting in the exclusion of this exon during mRNA processing. By skipping exon 51, EXONDYS 51 allows for the production of an internally truncated but functional dystrophin protein, addressing the underlying genetic cause of DMD. Approved under the FDA’s accelerated approval pathway, EXONDYS 51 is administered as a once-weekly intravenous infusion and has shown a consistent safety and tolerability profile in clinical studies. However, continued approval is contingent upon verification of clinical benefit in confirmatory trials.
Sarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMDs), and we currently have more than 40 programs in various stages of development. Our vast pipeline is driven by our multi-platform Precision Genetic Medicine Engine in gene therapy, RNA and gene editing. For more information, please visit www.sarepta.com or follow us on LinkedIn, X (formerly Twitter), Instagram and Facebook.
