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COVID's all-hands-on-deck approach should be standard for rare diseases

COVID's all-hands-on-deck approach should be standard for rare diseases
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One night of my neurology residency changed my life and defined my career. I was on duty in the ICU when a patient with end-stage ALS, or Lou Gehrig’s disease, arrived by ambulance. The patient was furious at not being allowed to die in his home as he wished. He demanded to be taken off life support. After consulting with his attending physician, I took out the breathing tube and turned off the ventilator.  

For the next three hours, I sat with his family while he gradually passed away. After an excruciating vigil, this man — a father, husband, uncle and friend to many — and who was afflicted with a rare disease for which there is still no effective treatment — exerted some measure of control over the cruel disease that had taken his life. At that moment, my mission solidified. I would spend the rest of my career finding ways to speed up research to get new treatments to patients more quickly. 

That was 31 years ago. Today and for the first time in my professional lifetime, everyone shares a visceral understanding of the consequences of untreatable disease and feels the urgency to develop life-saving treatments. The COVID-19 pandemic has brought out the best in all of us who work to develop tests and treatments for disease and get them to the people who need them in record time. This is to be celebrated. 

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But it also keeps me up at night. If the system is capable of this efficiency, why are there still so many diseases without a treatment?  

No one has greater need for timely diagnosis and effective treatments than the estimated one in 10 Americans who are affected by 7,000 different rare diseases, the plight of which is internationally observed on February 28. It currently takes between three and 15 years for rare disease patients to receive an accurate diagnosis. Yes, years to even understand what is afflicting a patient. Then, fewer than 5 percent of these diseases have any specific FDA-approved treatment. A mother of a child with a rapidly progressive rare disease I once worked on put it best: “I love basic discovery on my daughter’s disease and I love publications that report it. But when my daughter gets sick, I can’t give her a publication.”   

In my world, this process of turning observations into treatments and cures is called “translation.” For patients suffering from diseases with no treatment — or treatments that simply don’t work well enough — the translational process cannot happen fast enough. They are dying of what I call “translational disease,” or inefficiencies in the translational process. 

While we can tackle one disease at a time, as we have done for COVID-19, there are simply too many diseases that need attention. We must innovate and improve the translational process. This is the charge of the National Center for Advancing Translational Sciences, the part of the National Institutes of Health that I direct. A key strategy is to develop platforms, technologies and partnerships that overcome common translational issues that cut across all diseases, thus increasing the pace of testing and treatment development for many diseases at a time. This approach was key in allowing us to pivot many of our existing research efforts to address COVID-19 beginning as early as last March. We were able to do this because we’ve already been doing this for other diseases, including rare diseases. 

One of our most exciting initiatives to treat many diseases at a time is called the Platform Vector Gene Therapy (PaVe-GT). This program is piloting the use of the same gene delivery system and manufacturing methods for multiple rare diseases, with the goal of making gene therapy development and clinical testing more streamlined, less expensive and more accessible to more rare diseases. PaVe-GT brings together experts from across NIH to seamlessly coordinate research in the lab and in the clinic and to share their results so other gene therapy projects can learn from their experience. 

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PaVe-GT epitomizes the same approaches that enabled teams around the world to bring COVID-19 tests, treatments and vaccines to millions of people. These include collaboration, innovation in clinical trials and recruitment, open data sharing and the use of existing resources and networks — all in support of accomplishing a collective goal as rapidly as humanly possible.   

These approaches, along with all the other behind-the-scenes technologies, updated processes and teamwork that helped address COVID-19, must be put to use for all diseases, updated regularly and funded appropriately. 

As a translational research community, we must capture the scientific, operational and behavioral changes in this current environment that are allowing that rapid development brought on by the pandemic. When COVID-19 is over, we must apply what we have learned and now understand to be possible to the thousands of other diseases that need new treatments just as urgently. If such lasting change can be achieved, it will be one lesson we can carry forward from this terrible pandemic.

Christopher P. Austin, M.D., is director of the National Center for Advancing Translational Sciences at the National Institutes of Health.