Finding Routes to Duchenne Drug Approvals

It seems that everyone is looking for the newest molecule, the newest therapy, the newest technique that will halt the progression of Duchenne. This is good and we should continue on this journey. But none of these novel treatments will get to patients without first going through a rigorous evaluation in clinical trials.


Asking the Right Questions

First we have to ask the big questions:

  • How do we know clinical trials are designed to understand efficacy?
  • How do we know that the right clinical endpoints are being measured at the right time?
  • And as we’ve seen hinted at in recent trials, with steroids and other interventions, some patients respond and some don’t.  How do we know we are enrolling the right patients that have the best chance of responding in a trial? 


In parallel to all the investments we make focused on developing new drug targets, it is equally important to invest in making sure that we have the best information available for clinical trial design. The Duchenne community is lucky as there are several initiatives out there that will help to unravel some of these questions.



is one such tool. You probably know that DuchenneConnect brings you the latest updates on clinical trials that you or your loved one may qualify for. But it does more than that. DuchenneConnect helps you stay up-to-date on the latest Duchenne care, provides electronic storage for your medical records so you can access them from your phone or other portable device, and gives you direct access to Genetic Counselors who can help you understand and interpret data, and find care centers in your area.


And, by registering with DuchenneConnect, you are sharing your experience, you are helping inform clinical research and the clinical trial process. It also helps paint a broad picture of the natural history of the disease as de-identified data can be analyzed collectively over time. This type of data, in turn, can help with trial design.



The Duchenne Regulatory Science Consortium (D-RSC), which we introduced you to last year, is another PPMD partnership that is trying to answer some of these questions. Jane Larkindale who heads up D-RSC wrote a nice blog explaining D-RSC (see below). Our list of partners in D-RSC continues to grow as both industry and clinical partners recognize the value of this kind of consortium.


In the next several months, PPMD will be hosting meetings on function in various systems – including cardiac and respiratory– that will help us understand how results in these areas might be able to be used as endpoints in trials.

Be assured that PPMD is turning over every stone to make sure that not only the best compounds are discovered and supported, but the best information is available so trials can be designed most effectively.


The Latest on the Duchenne Regulatory Sciences Consortium


It has been a terribly disappointing few months for the Duchenne Community.  We have all been waiting with bated breath on each new development, and analyzing and re-analyzing every new scrap of information.  The Duchenne Regulatory Science Consortium, like you, has been watching avidly and trying to understand the situation and, importantly, what the next steps are.  We were set up to develop tools that will smooth the route to approval for all Duchenne drugs.  It is clear that these are desperately needed – we need tools that will help companies convincingly show that drugs work (or not) in ways that are accepted by the whole drug development community – drug developers, academics and regulators, as well as to patients and their families. 

D-RSC was set up as a consortium to help bring the community together to develop tools that can be used by everyone to accelerate the route to drug approvals.  D-RSC includes clinicians and researchers (Cincinnati Children’s Hospital, Leiden University Medical Center and University of Michigan currently) and drug development companies (Santhera, Sarepta, PTC Therapeutics and Pfizer), as well as our founding organizations, PPMD and the Critical Path Institute.  The FDA has assigned a liaison (Dr. Ronald Farkas) to advise us on our work, and two representatives of NIH also act as advisors.  This is a true community effort – by the community and for the community.

 So what do we need to develop?  It is very clear that we need a better understanding of how the disease progresses in groups of patients.  We can all see that some patients stay stronger for longer than others, and the disease changes differently in different patients.  It is very difficult to understand if a drug works if we cannot accurately predict how the disease would have progressed if the drug was not taken – we need to understand better the course of how the disease naturally progresses. This is D-RSC’s first goal – to develop a mathematical model of disease progression that allows us to predict how groups of patients will change over time, and how to understand which patients fit into which group.  If successful, this will help companies design effective, informative trials that will convincingly demonstrate whether a drug has an effect.

We know that our disease model must represent all patients, and allow us to understand the variability between them. To make this happen, we need to aggregate data from as many sources as possible – natural history studies, previous clinical trials, biomarker studies and registries – to make sure that the data represents patients throughout the disease course.  If we can model how specific groups of patients change over time, and what factors affect those changes, we will be in a much better position to understand how a drug is changing that.  The more data that we include, the better our model will be.

Our goal is to seek endorsement of the model through a formal process at FDA and EMA, which (if successful) would mean that the regulatory authorities agreed that the model describes specific aspects of the disease.  Companies developing drugs could use this model to better design clinical trials, so as to be more effective and more informative, and hopefully get effective new drugs approved more quickly.

  We are all saddened by recent events, but as a community we can come together to ensure that we learn from them, and come together even stronger than before. 

Jane Larkindale, D.Phil.
Executive Director, Duchenne Regulatory Sciences Consortium
Critical Path Institute

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