Bridging the Gap: Education, Awareness Key to Translating Medical Innovation to Community Health Care in Rare Diseases


With so many therapies on the horizon, the clinical and patient communities need to be adequately prepared to support them.

When thinking about the current state of advanced therapeutics for rare diseases, many of which are gene or cell-based therapies, the expression “cart before the horse” may come to mind. That is, the incredible rate of advances being made in the lab and in the clinic sometime seem leaps ahead of where realistic clinical practice currently lies.

For many patients with rare diseases, awareness of their disease is severely lacking among health care providers, especially those in the community setting. Access to specialists can be equally as limiting, with hundreds of miles often between patients and specialists at academic institutions. Add to that limited education on clinical trials, prohibitive costs, and travel restrictions due to health or other circumstances, many of the treatments currently or soon to be available might never reach their intended audience.

“Translation” in this field often means from lab to clinic, but in the case of rare diseases, translation also needs to happen from clinic to community, as improving access to advanced therapies for rare diseases is not just about developing successful therapies, but effectively involving and educating providers at all levels.

This topic was the focus of a dynamic panel discussion at the 2022 NORD Breakthrough Summit, October 17-18, 2022 in Washington, DC. Illustrating the different steps and players involved in the rare disease diagnosis and treatment process, the panel featured key speakers representing advocacy, industry, and academia.

Representing advocacy, Michelle Davis, executive director of the International FOP Association, recounted the work completed to boost awareness of fibrodysplasia ossificans progressive (FOP), a very rare degenerative musculoskeletal disorder. From her perspective, she noted that “creating a registry is the most important step, as it allows you to understand the size of your patient population and gather data, and that data becomes valuable and something that you can leverage in academia or pharma.”

Working with a very limited pool of FOP specialists, the International FOP Association supports extensive education efforts to better equip the community provider, including physicians, advanced practice providers, and nurses, with information about the rare disease, including presentations to look out for and continuing education opportunities.

Davis’ efforts are a small part of recognition and diagnosis, which can be particularly challenging in rare diseases. Those exhibiting perplexing presentations may land in the hands of Vinaya Murthy, MPH, MS, LCGC, and her colleagues at Indiana University Health’s Undiagnosed Rare Disease Clinic (URDC). Murthy, an assistant professor of clinical medical and molecular genomics, is a genetic counselor who helped launch the rare disease clinic which focuses on providing extensive genetic counseling services for patients who likely have an undiagnosed rare disease of genetic origin. The clinic, which includes a staff of medical geneticists and genetic counselors, serves to close the loop for patients who have yet to receive a definitive diagnosis despite extensive testing and seeing multiple providers.

For those who receive a confirmed diagnoses, Murthy and colleagues can then go on to referring them to a broader network of support, including helping unite them with advocacy organizations and clinical trial sites.

Patient recruitment for rare disease clinical trials involves its own set of unique challenges. Health, financial, and geographic limitations can quickly whittle away a pool of prospective participants, especially given that many rare disease patients live upwards of 2 hours away from major academic medical centers where clinical trials typically take place.

On the momentum of COVID-19 and the dissemination of telehealth, a large effort to decentralize clinical trials is underway, moving more trials outside of academic institutions to community settings, going as far to provide hybrid and fully virtual trial experiences. This patient-centric approach is key to improving clinical trial enrollment for advanced therapies for rare diseases.

Elevating the patient voice as part of the drug development process can help close a lot of the gaps that currently exist in terms of patient awareness of and willingness to participate in clinical trials, according to Nerissa Kreher, MD, MBA, chief medical officer, Entrada Therapeutics. Kreher spoke of emphasizing a ‘hub-and-spoke’ model to increase community-based clinical trials. “By training community [primary investigators] to be more involved in the trial, they learn about the clinical trial process and execution but also the disease. Ultimately, they will be more equipped to deliver care when treatments are approved.”

Ultimately, all 3 points go back to education, and the panel participants all agreed that adjustments to medical school curriculum are in order to better equip providers with the knowledge and decision-making tools needed to navigate the immense uncertainty that a rare disease diagnosis can conjure.

If We Build It, Will They Come? Presented at: 2022 NORD Breakthrough Summit. October 17-18, 2022. Washington, DC.
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