10/14 – 10/18: An Amazing Week in Review

When Chris and Patrick were diagnosed, there was no genetic testing. No therapies were targeted to the “CODE” and no way to DECODE Duchenne. We made assumptions about carrier status and lived many years with only assumptions. I thought my mother was a carrier. I knew I was a carrier. The doctor made that assumption for me. Serial CKs were done on our daughters with the assumption that a slight increase in the CK identified carriers.

Just a few years ago, after PPMD developed DuchenneConnect, I sent blood to Emory Genetics. My mothers and my own. Ten days later, I was called with the test results. It was difficult to hear to be honest. It was not a surprise, not at all. My mother was not a carrier. I am a carrier, a De Novo (meaning  ‘from the new’) mutation. I have no sisters – that  was not the issue. But my daughters – all assumptions were now potentially in error. We would need to discuss this heartbreaking topic, now in the context of the loss of Chris and Patrick and somehow it felt like the diagnosis all over again. Results: duplication exons  7-18.   

This week we were surrounded by news about exon skipping. Calls with Prosensa/GSK and Sarepta. All Duchenne organizations were involved in both calls. All organizations are working hard, using available resources and skills to help in ways both obvious, and not so obvious. We were all invited to collect questions from the community and submit them to each company. All questions were vetted by the respective companies.   

We listened and learned to the Prosensa/GSK webinar and are now waiting for final analysis, anticipated December, 2013. We are all hopeful sub-analysis will identify a subgroup of boys who are responsive to drisapersen as well as identify certain characteristics that link the subgroup together.

Sarepta provided the 96-week data and outlined their plans for the Phase 3 study. They expressed a willingness to include the placebo group from the drisapersen study, as well as the proposed open label study for those in the Drisapersen study on active compound. They announced Decode Duchenne. Utilizing PPMD’s DuchenneConnect Registry, Decode Duchenne is a wonderful program for the Duchenne community, providing a great opportunity to offer genetic testing to individuals who are under- or uninsured, as well as those whose previous testing is deficient. All of our industry partners utilize DuchenneConnect to help recruit clinical studies. We are thrilled for this opportunity and thankful to Sarepta. 

A Pipeline Full of Promise

All of us want every drug approved that is demonstrated to be safe and effective. We are hopeful for all drugs and believe the pipeline is full of promise. Our children (all of them, worldwide) need and deserve every option possible. We are painfully aware that Duchenne is clinically variable, that some boys have a variable response and sometimes no response at all to interventions.   

All of us are working very hard to advocate for our children. We believe we have every reason to be hopeful. Currently 7 public companies and more than 14 biotech companies are developing drugs for Duchenne. We consider this pipeline of potential therapies bright lights in what was once, a very dark tunnel. We see HOPE on the horizon.

We know for sure that we need more than one drug to end Duchenne. Our children will need combinations of drugs to stop skeletal muscle progression and combinations of drugs to preserve/stabilize heart function. The complexity, variability in care, variability in progression, and genetic differences in our children will require precision medicine.  Whether the basis of the therapy is antisense or ataluren or a utrophin upregulation. We will need to supplement those therapies, to build muscle, decrease inflammation, and improve blood flow. We will also need policy changes to support independence, employment, and quality of life. We will need to work with CMS to ensure access to therapies so that families are not financially devastated in the process.     

It is FDA’s role to provide safe and effective therapies, to be data driven, to include patients (parents) in the review process, to understand this urgent need, to understand that each and every day muscle fibers die, that every second is accompanied by functional loss, and to be flexible in their review process.     

It’s Coming

And we will celebrate together our first approval and every approval thereafter.   

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