Rare Disease Day ... or Rare Disease Month!

February is Rare Disease Month (I know, I'm a day early but really excited!). Well… actually, the end of February (28/Feb) is Rare Disease Day, but let’s make it a month! There are over 7,000 rare diseases that impact over 300 million people worldwide, according to National Organization for Rare Disorders . These types of numbers deserve a month not a day! February is also Heart Failure Awareness Month, American Heart Month, and National Cancer Prevention Month, among others, but I digress...

Rare diseases hold a special place in my life and my profession. My career in the life sciences began doing #clinicalresearch to test an orphan device developed by some pretty brilliant biomedical engineers and surgeons. The #medicaldevice itself was developed at the Cleveland Clinic , we had the patients at Vanderbilt University Medical Center . I traveled the world giving presentations at national and international meetings about this orphan device. I was even awarded the American Society for Artificial Society for Artificial Internal Organs Willem J. Kolff Young Investigator Award. I was the first, and to my knowledge the only, recipient without a terminal degree (i.e., MD or PhD). The day I received the award, there were filmmakers making a documentary on Pim’s life and accomplishments and they interviewed me. Being a young and budding scientist, I was in awe of Pim and so nervous during the interview that I don’t think they were able to use any of my footage in the final documentary!?

ASAIO and ASAIO Journal was also a place where I was exposed to the FDA in earnest and where my interest in #regulatoryaffairs took off. As you can imagine there were several physicians and scientists that had developed devices for orphan diseases, but the Humanitarian Device Exemption pathway was not yet available. And I was fortunate to be among many investigators speaking with FDA/CDRH about the hurdles of meeting a Premarket Approval (PMA) pathway that eventually led to the HDE pathway.

Over the years, my career shifted from being a scientist to being a builder of departments to efficiently execute clinical trials in order to generate evidence for marketing approval, even on an international scale. I also began research on not only adult populations but also pediatric populations. Several years ago, EURORDIS-Rare Diseases Europe estimated that 50-75% of rare diseases begin in childhood, a vulnerable population.?

Having headed the clinical research department for many years, I had the privilege to oversee some great research in the pediatric population, including one of the longest running research networks funded by the National Heart, Lung, and Blood Institute (NHLBI) – The Pediatric Heart Network (PHN), which provided ground-breaking research in congenital heart disease. I was the Principal Investigator of the Data & Statistical Coordinating Center for the NHLBI-funded Pumps for Kids, Infants, and Neonates (PumpKIN) program, and led the CRO services for a trial on a bioresorbable valve for pediatric patients. I even had the privilege to provide my regulatory expertise in one of the FDA-funded Pediatric Device Consortiums, it was led by Boston Children's Hospital . I mention these particular programs because they fueled my passion, and it even became personal.

The PumpKIN program really demonstrated how incredibly difficult it is to develop and shepherd through medical devices specifically for children. The program started by funding the pre-clinical research of 5 different devices for extracorporeal mechanical oxygenation #ECMO and ventricular assist devices #VAD in children. Of the 5 devices, only 4 officially made it to the PumpKIN program. Of the 4, only 1 made it to a clinical trial. The drop-out rate of the devices was not only due to the results of pre-clinical or lack of further federal funding, but in at least one instance the device was acquired by another company and shelved because it was not deemed a business priority. I am a huge supporter of the PumpKIN program and only mention this example to illustrate the immense challenges in developing an orphan device, especially in pediatric patients, despite the HDE regulatory pathway.?

Given my penchant for following cool technology and medical devices, I came across a company in Europe that was developing a bioresorbable valve, using endogenous tissue regeneration. A valve that grew with the child!... seriously cool. I followed the company and the OUS progress for 6 years and was pleased to help them initiate their pediatric trials in the US. It was challenging, it was hard, and after all this time, it is still not approved in the US.

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And then it became personal. After years of having PHN within my clinical research portfolio, my niece gave birth to a son with congenital heart disease on the same day as my birthday. He was treated at Vanderbilt’s Children Hospital, which participated in PHN studies. It was an emotional rollercoaster. But several years later, I’m happy to report George is thriving thanks to the research and therapies!

During my career, knowing the challenges of research and subsequent commercialization of therapies for rare diseases, I always thought real-world evidence could help spur the innovation. I even did an interview with HealthEconomics.com | A Scientist.com Company outlining the ways RWE can be used to facilitate rare disease research. When I was head of the National Evaluation System for health Technology Coordinating Center (NEST) , I was stoked to be able to work with Peter L. Saltonstall from NORD, as he was a Board Member at Medical Device Innovation Consortium (MDIC) .

Despite the exposure I’ve had to many diseases and therapies, rare diseases seem to weave their way into my life, professional and personal.

Here is my call to action to my LinkedIn community – rare diseases are not that rare, and the therapies to treat these conditions should not be rare either. First, Rare Disease should be a MONTH not a DAY!?Speak out?if you know someone with a rare disease.?Publicly celebrate?if you are working on rare disease therapies.?Raise awareness.?Be an advocate.

#RareDiseaseDay #LightUpForRare #ShowYourStripes