DuchenneConnect News, January/February 2018

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January/February 2018

DuchenneConnect Registry
 

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Free Genetic Testing

Families and providers: Decode Duchenne is an excellent resource for obtaining free genetic testing and counseling for individuals with a known or suspected diagnosis of Duchenne or Becker. The application process is quick and easy! We have partnered with a new lab in 2018, Perkin Elmer Genetics, to provide the most robust DMD Glossary Link gene testing available. And remember, PPMD's genetic counselors are an excellent resource when you have questions about genetic test results. This email address is being protected from spambots. You need JavaScript enabled to view it. or call: 888-520-8675

 


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Webinar Archive

Did you miss a recent PPMD webinar? Don't worry, the majority of webinars are recorded and archived so you can view them at your convenience. Check out the Webinar Archive to listen to the latest webinars presented by leaders in the Duchenne community. 

 



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News from the Registry...

Happy Heart Month!  

Your cardiac journey can help tell the story of heart health in Duchenne and increase the understanding of experts in the field. That's why we are asking you to update your Heart Module in DuchenneConnect. Login to your DuchenneConnect account, go to your Profile page and click on the Heart module. Either complete the survey for the first time, or select "Retake this survey" if you are updating information. Please take 5-10 minutes to complete this survey and you could win a prize this month, including a new iPad! Learn more about cardiac care by reading PPMD's new blog, From our Hearts to Yours

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Updated Care Guidelines 

PPMD is thrilled to announce that the Centers for Disease Control (CDC) has published updated Care Considerations for Duchenne in The Lancet Neurology. These articles are also available on the PPMD website. Since first being published in 2010, significant advances in Duchenne research and care made it evident that an update to these standards of care was long overdue. Later this spring, a family-friendly version of these standards of care will be released.  

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Your Data at Work

Did you know that the data you enter into your DuchenneConnect account is shared with a global neuromuscular registry? Certain mandatory data fields (all de-identified) are shared with the TREAT-NMD international neuromuscular registry. Combining data from patients around the world allows researchers to answer important questions using a large unified data set. Read the latest publication using data from DuchenneConnect and other  TREAT-NMD registries.

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Microdystrophin Gene Therapy

There are currently 3 microdystrophin gene therapy trials in the early stages of recruitment. All 3 trials require a single infusion of a viral Glossary Link vector (the adeno-associated virus, or AAV) to deliver a shorter version of the dystrophin gene. Learn more by reading PPMD's blog on gene therapy. You can also read PPMD's blog on the First Patient Dosed in a Microdystophin Gene Therapy Trial.
 

Italfarmaco's Givinostat

A phase 3 clinical trial of the investigational drug Givinostat is now recruiting in the USA, Canada and Europe. Givinostat is an HDAC inhibitor that has the potential to benefit all individuals with Duchenne regardless of their Glossary Link mutation. To participate you must be age 6 years or older, ambulatory and on a stable dose of corticosteroid. Listen to their recent webinar or learn more.
 
 

Santhera's SIDEROS

The SIDEROS trial is recruiting young men with Duchenne age 10 years or older, who are currently using steroids. This phase 3 trial is evaluating the efficacy of the investigational drug idebenone in delaying the loss of respiratory function in Duchenne. This study has >20 trial sites in the US and trial sites in many other countries. Learn more.
 
 

Don't Forget: Live Chat Hours!

DuchenneConnect offers online chat hours! One of our certified genetic counselors will be available during these times to answer your questions:

  • Tuesdays, 3-5pm EST
  • Thursdays, 11am-1pm EST

Simply login to your account during these hours to access the live chat feature. You can also contact us via phone or email:

  • 888-520-8675 or This email address is being protected from spambots. You need JavaScript enabled to view it. 

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