Last year, Dr. Lawrence Sturman – Director of the Wadsworth Center, New York State Department of Health – decided it was time to organize a meeting focused on Genetic Diseases of Children. He gathered leaders in the field of rare disease (because many rare conditions are diagnosed in childhood) such as Robert Desnick (Dean for Genetics and Genomic Services, Mt. Sinai School of Medicine), Sharon Terry (Genetic Alliance), and Maggie Hoffman (Co-Founder and Director of Project DOCC). For the next 12 months they worked together to organize the meeting, which would be structured around 5 topic areas:

• Reaching an early diagnosis
• Sharing Family experiences
• Optimizing Care and Coordination of Services
• Children living with a Genetic Disorder, Meeting Their Needs
• Accelerating Research

Maggie Hoffman contacted us about organizing a panel about Duchenne. Our focus would be: “Inside Look, Impact of Diagnosis from Birth to Adulthood.” Because the participants in the conference would range from researchers and clinicians to government agencies, we wanted to drive home several themes.

• Early diagnosis is critical and Duchenne should be included in newborn screening
• All individuals need access to optimal care
• Patients/families need to be included in clinical trial development and in discussions related to benefit/risk of new therapies
• New models for clinical trial design to include non-ambulatory patients
• Continue and increase NIH and related government agencies investment in research
• Critical need to implement training for adult physicians as children transition from pediatric to adult care
• Importance of providing support for higher education for disabled students
• Importance of policies that support independence and employment

The conference was held last week. It was an amazing success with so many important and relevant topics. The plenary sessions were an important piece – NIH discussing their interest in drug development, specifically facilitating the ‘valley of death’ and the NExT program in neurology. The NExT initiative has a $53 million set-aside. It will involve a collaboration of 25 sites and will include pediatric and adult neurological disorders. The NExT center will utilize a centralized IRB (similar to the pediatric cancer network) which will facilitate clinical trials. The Institutional Review Board (IRB) is often an obstacle to clinical trial development as each academic institution has their own IRB and, therefore, each site submits one by one and often results in delay of sites opening for trial. Dr. Ann Pariser discussed her role with FDA and various strategies to include patients/family members in regulatory discussions.

Accelerating research included advocacy groups, researchers, and industry, discussing drug development, trials, and trial design. Stu Peltz from PTC Therapeutics discussed lessons learned from the ataluren trial. All agreed about the importance of joining registries and updating information. This will be essential as drugs for rare conditions are approved and regulatory agencies require ongoing clinical data.

Think about it. In rare progressive conditions, it is often difficult to demonstrate statistical effect, especially if there is significant clinical variability. If the drug is a blockbuster in effect – sort of the steroid effect where improvement is typically pretty obvious within 2-4 weeks – the importance of a registry to maintain this data is obviously critical. But if a compound, for instance, restores a truncated protein and the protein takes two weeks or so to express this restoration? What if some muscles are not quite as quick to express the protein, and we see little glimpses of something, but perhaps not enough to be statistically relevant? Post marketing data collection might actually help us understand the impact over time. Registries are a critical piece.

Look for a video link to the meeting in the coming weeks. We will post it on our home page when it is available.

The meeting was amazing, one of the best I have attended. I was thankful to participate in four sessions along with PPMD parents Brian Denger and Catherine Collins, and to Patrick Moeschen. I sincerely hope it will be repeated next year. The meeting focused on the future for children with rare disorders. Children once without a future now have a future. That’s a nice conversation to have!

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