DuchenneConnect 2015 Annual Report

We are pleased to share with you the DuchenneConnect 2015 Annual Report. Read about our highlights and accomplishments in 2015, as well as our priorities for 2016.

If you have any questions or comments about the report, please email This e-mail address is being protected from spambots. You need JavaScript enabled to view it or call 888-520-8675.

Posted 8/1/2016

DuchenneConnect Awarded Funding for Phase II PCORnet

DuchenneConnect to Receive $1.4 Million Funding Award from PCORI

DuchenneConnect, led by PPMD, has been approved for a three year, $1.4 million funding award by PCORI – the Patient Centered Outcomes Research Institute! This funding award allows DuchenneConnect to continue our work as a member of PCORnet, the National Patient-Centered Clinical Research Network.  Our initial award for Phase I development of PCORnet began last year and will be ending this month, and our Phase II award will begin this fall.

Read the official press release here.

Click here to read PPMD's blog on this achievement.

Posted 8/12/2015

DuchenneConnect Data Published in PLoS Currents Muscular Dystrophy

Your Data at Work: Studying Loss of Walking Using DuchenneConnect

This summary was provided by Richard Wang, PhD, at UCLA’s Department of Human Genetics. Dr. Wang is a member of Dr. Stanley Nelson’s research team and one of their areas of interest is Duchenne muscular dystrophy. 

We are excited to share information from our article recently published in PLoS Currents Muscular Dystrophy: “Online Self-Report Data for Duchenne Muscular Dystrophy Confirms Natural History and Can Be Used to Assess for Therapeutic Benefits”. You can view the original article here but for this post, we’ll skip the technical jargon and highlight some of the interesting findings made possible by your participation in DuchenneConnect!


When trying to find treatments for any diseases, the gold standard is the “randomized controlled clinical trial”. The simplest type of randomized controlled trial would give a drug under development to half the participants and a placebo to the other half. The problem with this type of study in the Duchenne community is that it is difficult to get enough people for these studies and these studies are very expensive. A web based questionnaire, however, is relatively easy to do and much less expensive than a randomized controlled trial.

For our study, we used the DuchenneConnect registry to study factors that affect the age when someone loses ambulation. We chose to use the age at which boys and men with Duchenne require full time use of a wheelchair for several reasons. One, researchers have shown that this measurement is useful and robust. Two, parents and patients generally remember this date accurately and three, it is a simple measurement for helping to figure out the effects of medications and supplements.

The data

We used data collected from you through DuchenneConnect from 2007 until 2011. We did have some quality control measures in place to make sure we had high quality data. For instance, we removed profiles where the diagnosis was not Duchenne, the gender was female or not known, or the respondent came from a country where health care standards differed from the United States. (FYI, the reason we had to remove females and people with Becker was that their symptoms often look a bit different.  Don’t worry – we care a lot about the women and girls in DuchenneConnect and people with Becker in the Registry and we plan more studies in the future.)  In the end, we were left with data from 1057 men and boys (384 of whom currently use a wheelchair full time) to analyze. Figure 1 (in the journal article) illustrates the process we used to get our final group that we studied.

Comparison with Natural History Studies

In order to figure out if our data from DuchenneConnect was of high quality, we compared it with other natural history studies. Overall, our data from DuchenneConnect was very similar to three large databases (Dutch Leiden database, the UMD-DMD database and the MD STARnet cohort). For instance, the average age of Duchenne diagnosis hovered around 4 years old in all databases and the percentages of the types of genetic changes or mutations within the dystrophin gene (deletions, duplications, point mutations) were very similar across all groups. The age at loss of ambulation (Figure 2) also agrees with other studies.

Effect of Steroids

Many studies have shown that corticosteroids have a positive impact on boys with Duchenne. We wanted to see if we could replicate this result using our data set. Our reasoning was that if we can find the same result, then we can have more confidence in any other results we derive from DuchenneConnect. To do that, we looked at the 384 boys who use a wheelchair full time and split them in three groups: (1) those currently using steroids, (2) those never using steroids and (3) those who have used steroids in the past but have stopped. Then this information was plotted on a graph, see Figure 3A. From prior studies, we know that without steroids, most boys will start to use a wheelchair to get around beginning at the age 9-10. This is exactly what we find in the DuchenneConnect group. Boys never on steroids (green line) and boys who have been off steroids (brown line) both started using a wheelchair to get around full time at around age 10. Current steroid users started using a wheelchair full time at a later age, roughly 3 years. At this point, we did a statistical test to support our intuition and found that the differences between the groups were in fact significant. Putting all this together, we have found the same benefit of steroids as other randomized controlled trials!

It’s very exciting to see that we can replicate such a finding using nothing other than a web based survey where you volunteer to give your information. In fact, if we did not already know steroids were beneficial, we could have discovered that fact using the DuchenneConnect method.

Deflazacort versus Prednisone

As most of you are aware, the most commonly prescribed steroids are prednisone and deflazacort. Roughly 58% of the DuchenneConnect population uses deflazacort. When we compared prednisone users versus deflazacort users, we see that deflazacort seems to prolong ambulation by about one year (Figure 3B).

We also compared dosing strategies. The way people take steroids can vary quite a bit: daily, every other day, 10 days on and 10 days off, etc. To simplify, we created two groups: (1) daily users and (2) less-than-daily.  Looking at Figure 3D, we see a possible trend where deflazacort may be more effective when given daily (solid line). However we did not find that the different groups were statistically different from each other.  One explanation may be that our sample size is too small. We only have about 30 individuals on less-than-daily deflazacort. As more individuals participate in the registry, we can hopefully figure out whether daily versus less-than-daily makes a difference.

Clearly there are limitations to using registry data instead of doing a clinical trial. We can only observe information as it comes to us instead of designing the study exactly as we would like. Also, our questions may be lacking. For example, we did not ask everyone what dose of steroids they take (but DuchenneConnect is adding this question to the registry now). Having more detailed information such as the dose would give us an idea about what works and what doesn’t, and would open up new questions such as side effects of medications. The good news is that we might be able to obtain this information just by asking the participants, which is something not always possible with traditional trials.

The Use of Supplements

Guidelines for treatment of Duchenne leave some unanswered questions. We have some guidelines for steroids, but are there any other supplements that might make a difference? This is an exciting question we can begin to tackle with DuchenneConnect. Physicians and parents give different supplements based on their own line of reasoning (for example, calcium helps with bone strength) but the value of this type of data becomes powerful when we look across a larger group like the one in DuchenneConnect.

We looked at all supplements used by at least 20 individuals in the registry and compared them with the probability of walking until 13 years old. We compared boys on steroids alone vs. boys on steroids plus a supplement. For example, we looked at steroid-only boys versus steroids plus vitamin D users. To our surprise, vitamin D and Coenzyme Q10 were significantly associated with a delay in the use of a wheelchair full time (Table 2). This would give support to the idea that vitamin D and Coenzyme Q10 are effective in prolonging walking ability. Like any good bunch of scientists, however, we are aware that other factors may be at play here and we are missing some information. For example, we didn’t ask about dose or frequency of the supplements. But this finding certainly qualifies for follow up research.

Why this is exciting

One of the challenges for rare diseases like Duchenne comes from getting big enough numbers of participants for research and clinical studies. Randomized controlled trials are the gold standard for any sort of research or clinical trial but they are expensive, geographically limited and require several years to complete.

DuchenneConnect is an alternative model. In just five years, the Registry has collected the largest group of people with Duchenne and Becker muscular dystrophy to date. And that group has provided a lot of data! The hope is that this web survey model can provide a rapid turnaround from question to answer through a close partnership between patients, clinicians and researchers.

Using nothing more than a survey and patient reported data from a large number of individuals, we showed that we can replicate results from focused randomized controlled trials on the benefit of steroids. We have also found new insights, such as the increased benefit of deflazacort compared to prednisone, and the possible beneficial roles for vitamin D and Coenzyme Q10.

As the DuchenneConnect registry continues to grow, we expect to be able to better answer questions that are important to patients, their families and clinicians. Currently, we estimate 10% - 15% of the US Duchenne population is registered in DuchenneConnect, leaving an enormous potential for growth. Continued participation as well as new enrollment will hopefully allow us to further explore the role of different potential therapies.

Posted 11/25/2014

DuchenneConnect Awarded Funding from PCORI

Official Press Release:  

DuchenneConnect Approved for Funding Award from Patient-Centered Outcomes Research Institute to Become Integral Part of New National Clinical Research Network

Hackensack, NJ – February 19, 2014 – DuchenneConnect, a program of Parent Project Muscular Dystrophy (PPMD), is thrilled to announce receiving a funding award of $970,000 by the Patient-Centered Outcomes Research Institute (PCORI) to take part in developing a health data network.  DuchenneConnect will be part of PCORnet: the National Patient-Centered Clinical Research Network. The DuchenneConnect network is one of 29 networks that were approved for PCORnet.  The formation of the new national PCORnet resource aims to boost the efficiency of health research. This is especially exciting for rare disorders like Duchenne and Becker muscular dystrophy, where health data networks may provide a pathway to faster, more effective clinical research to answer questions important to the Duchenne and Becker muscular dystrophy community.  

DuchenneConnect is an established patient-report registry for Duchenne and Becker muscular dystrophies.  With seven years of experience collecting longitudinal patient-report data that is utilized by industry, clinicians, and academic researchers for advances in Duchenne and Becker muscular dystrophy, DuchenneConnect has been a model for rare-disease registries. The DuchenneConnect team is led by Principal Investigator Holly Peay, MS CGC, Vice President of Education and Outreach for PPMD; and Project Director Ann Martin, MS CGC, DuchenneConnect Curator. The DuchenneConnect project benefits from key collaborations with W. Andrew Faucett, MS CGC, and F. Daniel Davis, PhD at Geisinger Health Systems; Stanley Nelson, MD, Nancy Halnon, MD and Richard Wang, PhD at UCLA; and Kyle Brown and Jud Rhode at PatientCrossroads.

The PCORnet project comes with anticipated benefits for the DuchenneConnect community, and for the nation. 

Nationwide benefits:  PCORI envisions PCORnet to be a secure, national data network that improves the speed, efficiency, and use of patient-centered comparative effectiveness research (CER).  By integrating data available in the 29 individual networks, PCORnet aims to provide access to a large amount of diverse, nationally representative health information that can support a range of study designs.  It will reduce the time and effort needed to launch new studies and focus research on questions and outcomes especially useful to patients and those who care for them.

DuchenneConnect benefits:  Ms. Peay is excited about what this award means for DuchenneConnect: “I’m so proud of what we have accomplished with DuchenneConnect in the last six years, but we are ready to take this registry to the next level.  With the funding from this award and with our great collaborators at UCLA, Geisinger, and PatientCrossroads, we are excited to enter our next period of growth with a focus on improving the registry experience, increasing our enrollment, exploring information needs of our community, and working to address those needs through collaborative research that is efficient and cost-effective.  We are extremely enthusiastic about maturing the registry with input and support from the PCORnet partners, while concurrently sharing our experiences (and ultimately data sets) with the Network partners.  Many of DuchenneConnect's achievements through this program will become available to other disease registries under the PatientCrossroads model, thereby extending the reach of PCORnet to a broader range of patient networks.”

PCORnet will join together networks operated by both patient communities and health systems and will require patients' and other stakeholders' involvement in all aspects of the collection and use of the data.  By enabling researchers and patients, clinicians, and other end-users of study results to interact directly and jointly determine research priorities, such as the selection specific studies to support, PCORnet aims to advance the shift in clinical research from investigator-driven to patient-centered studies.

DuchenneConnect was selected through a review process in which patients, caregivers, and other stakeholders joined scientists to evaluate the proposals.  Applications were assessed for the capacity of their network to collect complete, comprehensive clinical data; how well they will engage patients and other stakeholders; and their ability to maintain data security and patient privacy among other criteria.

All awards are approved pending completion of a business and programmatic review by PCORI staff and issuance of a formal award contract.

PCORI has awarded a total of $464.4 million since it began funding CER in 2012. For more information about PCORI funding, visit  For more information about PCORnet, visit  To learn more about DuchenneConnect, visit


About Parent Project Muscular Dystrophy

Duchenne is a fatal genetic disorder that slowly robs young men 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 young men 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 boys with Duchenne live longer, stronger lives. We will not rest until every young man has a treatment to end Duchenne. Go to for more information or to learn how you can support our efforts and help families affected by Duchenne.


About DuchenneConnect

Early in 2007, a group of thought leaders in the Duchenne muscular dystrophy community began discussing the need for a new kind of resource that would connect and serve the needs of the entire community. What they envisioned was a central hub that would bring together those living with the disease, along with their families, friends and caregivers, to connect them with medical research, clinical care, clinical trials and each other. At the same time, it would also be a resource for researchers and industries with an interest in Duchenne, allowing access to aggregated, de-identified information provided by patients and their families—information that could prove vital to advances in care and treatment. This resource, a breakthrough multidirectional information portal for Duchenne and Becker muscular dystrophy, would help connect these stakeholders, while providing them with resources never before available in one place. Today, the result of this endeavor is DuchenneConnect, a robust and cutting-edge website and registry.



The Patient-Centered Outcomes Research Institute (PCORI) is an independent, non-profit organization authorized by Congress in 2010. Its mission is to fund research that will provide patients, their caregivers and clinicians with the evidence-based information needed to make better-informed health care decisions. PCORI is committed to continuously seeking input from a broad range of stakeholders to guide its work. More information is available at

Decode Duchenne: A Genetic Testing Program for Duchenne and Becker

Decode Duchenne provides free genetic testing, interpretation and counseling to people with Duchenne or Becker muscular dystrophy.  Please click here to learn more.

You may also call 888-520-8675, option 1, or email This e-mail address is being protected from spambots. You need JavaScript enabled to view it .

Thank you for your interest in Decode Duchenne!


First DuchenneConnect Registry Publication

We are excited to announce the first publication of DuchenneConnect data. The article “DuchenneConnect Registry Report” was published on PLoS (Public Library of Science) Currents: Muscular Dystrophy on March 5, 2012. This comprehensive article reviews the history of the registry and provides an overview of the registry data from the start of the registry in 2007 through June, 2011. The report includes demographic data, ambulation status, corticosteroid use, genetic mutation, family history, and cardiac and pulmonary status. Click here to read this important article.

Clinical Trial News

To read the latest updates on actively recruiting clinical trials, please click here to read the Clinical Trials News on the main DuchenneConnect site.  Or you can visit and click the tab for Clinical Trials. 

The DuchenneConnect Direct Access Webinar Series

PPMD's Direct Access Webinar Series allows you direct access to key figures in the fight to end Duchenne. Whether it's a researcher offering updates on a developing therapy, or industry providing clinical trial information, this series will be your resource to find out what is going on in the community from the people making it happen.

Please click here to learn about upcoming webinars or to listen to archived webinars.  Or you can visit the main DuchenneConnect site at and click on the tab for Webinars.