An Overview of Your Impact in Action

We are less than a week away from PPMD’s Annual Connect Conference, where researchers and industry from around the world will provide our community with the latest updates on current and potential Duchenne therapies.

As we gear up for what promise to be incredibly informative and busy days in Chicago, I thought it would be a great time to look at the breadth and scope of PPMD’s research approach and investment over the course of our history. This isn’t just about our investment in dollars – which is significant and has led to hundreds of millions in leveraged investments from the federal government – but this is about our investment behind the scenes, identifying the most innovative approaches to Duchenne treatments, identifying the roadblocks that bottleneck potential therapies in a crowded therapeutic pipeline, and convening the right players when needed to accomplish this.

PPMD’s Continually Evolving Approach

PPMD, over the years, has funded many potential therapies with the goal of advancing them into human clinical trials. We see value in investing in all stages of the therapeutic pipeline:

  • Early discovery/ basic research
  • Preclinical
  • Clinical

But our work doesn’t end there. As we enter a new age of Duchenne and a post-approval landscape, PPMD is also focused on how therapies are delivered and accessed.

In the early days, most of our investments were at the beginning of this translational process. If you look at the numbers of compounds that have made it into clinical trials, it is astounding. For a rare disease like Duchenne, our pipeline is full of promising potential therapies because of how this community has come together to spur development in the space.

We need to know more, though. For PPMD, it’s about innovation – discovering and supporting the next big thing. Our most recent example is the Gene Transfer Initiative announced this year, which invests in both gene transfer and CRISPR/Cas9 technologies as a potential treatment to slow the progression of Duchenne. As demonstrated by this Initiative, we don’t place our bets on one horse. We invest in multiple projects and multiple researchers, to spur innovation by creating competition. PPMD’s strategy has always been to look ahead and fill in the gaps. We figure out what is missing from the pipeline and how we can help science move as efficiently and safely as possible.

Behind-the-Scenes of Clinical Trials

We have several “behind-the-scenes” projects that we have funded as part of our strategy – projects we believe are necessary to ensure our translational investments have the greatest chance of success. Some of these efforts are early stage, but PPMD believes in the potential each project offers in our goal to bring safe and effective therapies to families as quickly as possible.



One project is the Duchenne Regulatory Science Consortium (D-RSC), housed at the Critical Path Institute. You may have read my previous blogs outlining the importance of this consortium, which recently held its annual meeting. The goal is to create a disease progression model that will describe how the Duchenne progresses in subgroups of patients defined by clinical variables, with the initial goal of informing trial inclusion criteria and endpoint selection. If the model is formally endorsed by regulatory authorities as is anticipated, the model will be made broadly available and will accelerate drug development.

One of D-RSC’s first milestones was to develop a Therapeutic Area Users Guide (DMD-TAUG) that took every element of disease progression and the clinical tests used to measure those elements, and standardize them. For example, the 6-Minute Walk Test: the way the test is performed has to be defined, and then every possible outcome of that test has to be mapped.

The DMD-TAUG is complete and the first draft is out for review, as is part of the process for all TAUGs for all disease areas. If you are so inclined, take a look. We hope that this standardization of data language and format will be of benefit to everyone in the Duchenne community, not just the DRSC project. It is a way for all data owners and users to exchange and use the data.

DRSC is now working on developing the disease progression model. For the model to be useful in developing clinical trial protocols, it needs to be able to predict which patients are likely to change in specific endpoints in a statistically meaningful way over a period of less than a couple of years, so as to inform inclusion criteria and size and length of a trial. It needs to be able to predict clinically meaningful changes in the patients, in order to be of use in regulatory decisions. It also needs to be supported by high quality data. These are high bars, but ones we think are doable and necessary.

Inflammation & Immune Response in Duchenne


In January, PPMD organized a Critical Path Innovation Meeting with the FDA focused on "Inflammation and Immune Response in Duchenne." The goal of the meeting was to begin to explore the role that inflammation plays in Duchenne and how might we measure it. Discussion focused on questions regarding:

  • the impact of animal (canine and mouse) vs. human data
  • the correct choice of animal models for studies
  • the role of inflammation in promoting disease
  • the role of immune suppression in modulating disease progression
  • challenges for how to administer candidate drugs to achieve beneficial effects
  • the potential need for different treatments over time
  • the potential for combination therapies
  • the role of autoimmunity

Biomarkers were discussed in terms of differences resulting from age and stage of disease, variability of biopsied muscle site, use of less invasive techniques and tissue for biomarker analyses, the need for robust validation of novel biomarkers, and challenges of differentiating steroid myopathy from underlying disease.

Also discussed was the concept that there may not be a single level of treatment that is consistent throughout the stages of disease or even within an individual with Duchenne. It may be important to tailor therapeutic options. This 90-minute meeting helped identify the need for a longer, invitation only meeting that will take place before the Annual Connect Conference, to further discuss what we know, and don’t know, about the role of inflammation and immune response in Duchenne. As I look at the agenda for this upcoming meeting, I am thrilled that there are names new to the community, bringing new expertise and experience from both Duchenne and other disease areas. As an ever-expanding community, we will understand the role that inflammation and immunity plays in Duchenne.

The Duchenne Drug Development Roundtable

DDDR - June 2017

PPMD's Duchenne Drug Development Roundtable held three small focused meetings on topics of relevance to accelerating clinical trials, the second meeting focusing on adaptive trial designs and learning from other disease communities.

Jeff Allen, from Friends of Cancer, spoke about a lung cancer trial called Lung-Map where a network of trial sites are linked together through common operational processes and a master protocol. Every lung cancer patient that is cared for at these sites is screened and offered an arm of the trial, based on their particular type of lung cancer as measured by biomarker results during screening.

While lung cancer is not a rare disease, many in our community believe that this concept of a Master Protocol, in some fashion, ought to work in Duchenne. Experts at the DDDR meeting, including representatives from the FDA and biostatisticians, were enthusiastic about the idea.

This would essentially mean that every Duchenne patient, in all age categories, is enrolled in a master trial protocol (if being treated at a center that participate in the master protocol), functional test are measured that span the whole disease, and non-invasive biomarker tests are used to monitor disease progression, and predict treatment effect.

There would be a lot of upfront work and organization that needs to take place, and resources that need to be gathered, but the benefits could be significant.

Industry & Research Updates

PPMD is proud of the relationship we have with each company that comes into the Duchenne space, whether small biotech or large pharmaceutical company (and everyone in between). We continue to educate industry and galvanize the space, resulting in regular updates from companies. Below is a look at some of the latest headlines.

UT Southwestern Medical Center Shares Gene Therapy Findings

New findings by Dr. Eric Olson and the Department of Molecular Biology at UT Southwestern Medical Center are the first to show the efficiency of Cpf1-mediated correction of genetic mutations in human cells and an animal disease model – providing us with a promising new tool in the CRISPR toolbox. Thanks to your support, PPMD was able to award a $250,000 grant to Dr. Olson and his lab earlier this year, as part of PPMD’s gene transfer initiative.

PTC Therapeutics Announces FDA Advisory Committee Meeting for Ataluren

PTC Therapeutics, Inc. announced that the FDA has notified the company of the tentative scheduling of a Peripheral and Central Nervous Systems Drugs Advisory Committee meeting on September 28, 2017 to review the new drug application (NDA) for ataluren (Translarna). This is another important moment for our community and we look forward to the opportunity to share our collective experiences with Translarna with the FDA. As details on this Ad Comm become available, PPMD will let you know how you can get involved.

PTC Therapeutics Completes Acquisition of EMFLAZA from Marathon on April 20

Earlier this year, PTC Therapeutics entered into an asset purchase agreement with Marathon Pharmaceuticals, LLC to acquire all rights to Emflaza™ (deflazacort). PTC Therapeutics recently provided an update regarding EMFLAZA. Click here to read the latest FAQs from PTC. The company will also be traveling around the country hosting informational meetings. For the current schedule, click here. Any additional questions or concerns, please visit for answers to some of the most frequently asked questions PTC has received.

Bristol-Myers Squibb Enters into Agreement with Roche to License Anti-Myostatin Compound

Bristol-Myers Squibb (BMS) announced that it has entered into an agreement to license BMS-986089, an anti-myostatin adnectin in development for Duchenne, to Roche.

Pfizer Completes Enrollment of Phase 2 Study of Domagrozumab (PF-06252616)

Pfizer Inc. announced the completion of patient enrollment in a multicenter Phase 2 clinical trial of the investigational compound, domagrozumab (PF-06252616), in boys with Duchenne. The trial enrolled 121 patients and seeks to evaluate the safety, tolerability, and efficacy of PF-06252616 in boys aged 6 to less than 16 years old diagnosed with Duchenne regardless of genotype. The study is conducted over two years, after which participants may be eligible to continue on an open-label extension study.

Capricor Therapeutics Announces Positive Six-Month Results from the Randomized Phase I/II HOPE Clinical Trial in Duchenne

Capricor Therapeutics announced positive top-line results from a safety and exploratory efficacy analysis of six-month data from the randomized 12-month Phase I/II HOPE Clinical Trial of CAP-1002 (allogeneic cardiosphere-derived cells), an investigational candidate for the treatment of Duchenne. We are excited to see these results and to see the field of cell therapy making progress after more than two decades in development. Click here to read the press release or watch a recent community webinar hosted by PPMD and Coalition Duchenne.

This Generation of Clinical Trials

The Duchenne community has worked hard to achieve such a rich pipeline of trials that are in the clinic, many of them supported by PPMD in earlier stages. We need to ensure trials are thorough and efficient, determining viability quickly, so that we don’t waste precious time and resources. While this is not an exhaustive list, it does cover the candidates that are on the horizon. Visit PPMD's DuchenneConnect for a comprehensive list of all drugs in development.

Clinical Trials


Stream PPMD's 2017 Connect Conference

Unable to attend this year's Connect Conference in Chicago? PPMD will be streaming a majority of the General Session presentations starting Thursday, June 29 through Saturday, July 1. Click here for details and a full agenda. If you can't stream the sessions or want to re-watch something, most presentations will be available for download by mid-July!

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