Other than Downton Abbey, TV is not my favorite sport. On occasion, I have watched CSI, The Closer, Bones, but, truth be told, they are all the same. Person murdered, investigation, fingers point one way or another, murderer confesses. End of story.  


When my boys were diagnosed with Duchenne, I fell into the same trap. Who is responsible? Both my parents smoked, so it’s their fault? My father’s company made doctor bags (Schell Leather Goods). As a child, I would ride to the factory with my dad to ‘light the gluepots’ to ensure the glue reached a certain temperature and would seal the leather on the frame of the bag. Was it the glue toxic? I rolled these concerns over and over in my mind, hoping to point the finger at something. I’m not sure why really. I had the sense knowing, identifying the ‘culprit’ would make ‘it’ better.    


As Duchenne progressed, stealing function (the ‘little deaths’ I often talk about) I pointed the finger at basic scientists who were unable to fix my sons, doctors who did not understand Duchenne and were ill equipped to help, drug companies that were not interested, government that seemed to turn its head on Duchenne and rare disease. I could not point to the FDA because no one, no company was interested. 


Little has changed over time. We still point fingers though the recipients are a bit different. Drug companies that seem to move slowly, FDA that we assume is inflexible, and soon we will point to payers who seem indifferent, unwilling to support expensive therapies.  


But finger pointing has no results, just wastes time, energy, and strength.   


Washington, D.C. 

In our world, Washington, D.C. is one of the centers of the universe because of the federal investment in Duchenne (NIH, CDC, DoD) and because it feels like FDA/CDER, neurology division is holding some of the keys to our sons’ futures.


And for all of us waiting, the more we stare at these keys to the future, the bigger they seem. Discussions, pre-IND hearings, more discussions, protocols, toxicity studies, statistical methodologies, done behind closed doors – and we have only ideas and guesses about those conversations. Discussions on social networking sites, where any individual makes a comment, pro or con, are ‘liked’ and disseminated without facts and many in the absence of facts.   


Interactions between sponsors and FDA are limited to a very few people. Generally participants include the CEO of the company, chief scientists, physicians, toxicologists, and statisticians. Discussions focus around the rationale, science, toxicology, protocol, primary outcome, statistical design. Discussions we are only able to guess about, think about, dream about. We hear the press release and think about our Duchenne arithmetic… if this, then my son will…



We have met with the neurology division on several occasions. Our discussions are not focused on a particular compound or strategy. Rather our interactions include a range of topics to include need, urgency, ‘trickiness’ of Duchenne, clinical variability, variability in care, primary outcomes, testing in very young, as well as non-ambulatory. We discussed natural history studies, a central repository for placebo arms of all trials and at what point trials might not require a placebo arm.


We talked about the fact that people with Duchenne are often described as ‘dying’ children, when in fact, at diagnosis, the boys have 25+/- years to live! Dying seems hardly an appropriate label.


We talked about some physicians referring to Duchenne as a chronic illness, when, in fact, Duchenne is not chronic in the true sense of the word. Chronic disease is typically managed and relatively, slowly progressive. Duchenne does not fit either definition. 


On a sliding scale, Duchenne lines up on the ‘dying side’, though death is not imminent. I hate the term ‘our dying children’ as I think it is an unfair label for our sons to carry and worry that that term might penetrate their hopes and dreams. Together we agreed, that the progressive, debilitating nature of Duchenne results in ‘little deaths’: the impact of losing the ability to care for personal needs is devastating and the ripple effect on families places a difficult burden on the primary caregiver in terms of time, fatigue,  and emotional stress. Not to mention it impacts the financial stability of the family.

Duchenne fits the criteria for Fast Track, Accelerated Approval and Priority Review. This subpart applies to certain new drug products that have been studied for their safety and effectiveness in treating serious or life-threatening illnesses and that provide meaningful therapeutic benefit to patients over existing treatments (e.g., ability to treat patients unresponsive to, or intolerant of, available therapy, or improved patient response over available therapy).

-- Source: FDA website


Clearly, we would all agree that the compounds in development seem to fit into the Breakthrough Therapy Designation. While the FDA is working on developing a guidance around this designation, no  later than 60 days after receipt of the submission, a determination will be made to either grant or deny the request for Breakthrough Therapy designation in the form of a designation letter (for requests granted) and a non-designation letter (for requests denied).

Breakthrough Therapy designation for the indication being studied, including:

  • Evidence that the drug is intended, alone, or in combination with one or more other drugs, to treat a serious or life-threatening disease or condition; and

  • Preliminary clinical evidence indicating that the drug may demonstrate substantial improvement over existing therapies on one or more clinically significant endpoints, such as substantial treatment effects observed early in clinical development.

-- Source: FDA website

On February 10th, our Annual Advocacy Conference begins. We will celebrate 12 years of work on the Hill, thank our champions in Congress and add new champions, and request this legislation be reauthorized again. If you take a moment to read the legislation, you will notice a few pretty amazing adjustments to include Standards of Care for Adults, recommendations for policy changes to support independence and employment, the mention of personalized medicine and FDA as our partners.

PARTNERS. A pretty big and meaningful word. We have and will continue to work with the agency because it is important that they ‘get it’ and we ‘get it,’ that we understand our FDA partners are charged with using their tools, applying their metrics and making decisions that will be meaningful to our sons and our families based on evidence. They know we want safe and effective treatments.

Duchenne muscular dystrophy is an aggressive, progressive, and debilitating disease. Children, primarily boys, are diagnosed around the age of 4 years. Over the next 15 years, these same individuals will lose the ability to walk, to lift their arms, to breathe, to live. Clinical trials in Duchenne are limited to a very small subset of individuals who are considered sensitive to change in the primary outcome measure, the 6mwt. All other individuals, the very young and those who have lost the ability to walk wait on the sidelines. Within the process of developing, conducting, and analyzing a clinical trial, some of these individuals will lose function and others may lose their lives. If indeed new drug development takes 10 years for any given compound and no flexibility or urgency is applied to the process, the current generation of boys will not have benefit from the potentially amazing opportunities we feel should be in their future.

Jenn Mcnary and her family have done an amazing job with Change.org soliciting signatures about the petition. Clearly, the era of social networking has facilitated the ability to come together as a community, as a world, to raise a collective voice to express urgency, frustration, and need.

Change.org provides the opportunity to enables and empowers individuals to raise their voices collectively. This petition is an expression of frustration, and a call for urgency to all involved in the Duchenne drug development. It is a request, a plea to the agency to apply maximal flexibility in the review process. 


I think we all agree FDA should not and cannot approve drugs based on petitions – we respect the importance of having valid data as the foundation for drug approvals. But there is something to be said for Change.org enabling individuals to raise their voices, to express frustration with the process of review, perhaps especially in rare conditions, where we are ‘learning to fly the plane while in the air.’ The risk of no treatment is high and people with Duchenne lose function every single day. For those waiting in the back of the bus, meaning those who have already lost ambulation and are typically not included within clinical trial protocols, the wait will be too long.


Washington is famous for the saying, “Do not allow the perfect to be the enemy of the good.” Duchenne, as a disease, has significantly more toxicity – morbidity and mortality – than  any compound FDA would allow in clinical studies. FDA has discretion at its disposal and must apply flexibility in evaluating potential therapies for Duchenne. 


For Duchenne and for rare diseases, the Washington mantra fits very well. “Do not allow the perfect to be the enemy of the good.” GOOD for first generation compounds is a very good start, a foot in the door to treatments; first generation drugs with the potential to do something, in our case, potentially preserve ambulation for several years, extend the ability to lift a fork, delay the need for ventilation. We will take GOOD. We will be grateful for GOOD.  


And we will look forward to working with the agency on second and third generation compounds and combinations of compounds until together we reach PERFECT.

Pat Furlong, Founding President, CEO
Read more PPMD Staff Blogs

Views: 1141


You need to be a member of PPMD Community to add comments!

Join PPMD Community

Comment by Colleen on February 7, 2013 at 6:17pm
Thank you for putting everything in black & white. My son is one who is waiting on the sidelines at 16. I can only do my best to advocate and hope for the Fda to hear our stories. Always believe something wonderful can happen.

Need help using this community site? Visit Ning's Help Page.



© 2021   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service