Rare Disease Report

Childrens National Rare Disease Institute Thrives in 2018

APRIL 13, 2018
Mathew Shanley
Marshall Summar, MD, has made a name for himself by pioneering work for children with rare diseases. The chairman of the board of directors at the National Organization for Rare Disorders (NORD), chief of the Division of Genetics and Metabolism at Children’s National Health system, and director of the Rare Disease Institute, is ever-humble. He chalks his success up to collaboration.

“It’s not that it’s nice to collaborate. It’s key that we share data in order to accurately diagnose and treat patients [with rare diseases]. If we don’t have collaboration, research and science fall apart,” Summar said during a panel at Rare Disease Day on February 28 at the National Institutes of Health in Bethesda, Maryland.

Since the turn of the new year, Summar and Children’s National Health System have played an integral role in advancing care and treatment for children and adults with rare genetic diseases. Their efforts are substantiated by a long-standing reputation for success and nationwide recognition: Children’s National Health System has been operating since 1870 and holds a No. 1 ranking for infant care and is in the top 10 for 4 other specialties: cancer, neurology and neurosurgery, orthopedics, and nephrology.

Last year, Summar was at the forefront of the establishment of NORD’s first Center of Excellence, the Children’s National Rare Disease Institute (CNRDI). The unique center at Children’s National Health System was designed to strengthen the field of rare disease medicine by regulating care models and establishing worldwide best practices in diagnosis and treatment. In January 2018, only a year after its inception, the CNRDI accepted a $3-million donation from Retrophin, Inc, for support of its ongoing development.

At the time, Summar said the funding would allow the organization to “pursue work that will have a far-reaching impact on both children and adults across the country and around the world. This is an exciting first step toward a new era of rare disease care and innovation.”

Specifically, Retrophin’s donation will help to employ specialists in dedicated positions at the CNRDI over the next 6 years. This new team will work to advance the streamlining of patient access to the most ideal care methods among peer institutions across the country and around the world, according to Summar. Additionally, the Retrophin Rare Disease Network aims to build on the Institute’s existing digital and telemedicine programs.

“Hats off to Retrophin for recognizing that not only is that good for the patients, but it’s also good for the business,” Summar told Rare Disease Report®. “The better the diagnostic criteria are, the better [companies] run. It’s a pretty altruistic idea because there are literally no strings attached and it’s designed to provide good high-quality care and high-quality diagnostics to patients. I think that if they feel healthy, it’s good for everyone.”

Increasing diagnostics and growing awareness of patients with rare diseases suggest that care is improving. However, this more frequent and better care has placed a strain on unprepared health systems. Summar said he knows the rare disease community feels a responsibility to care for its patients, but that that can’t happen without additional funding.

“The tremendous difficulty that patients with rare diseases have in getting an accurate diagnosis and early treatment is well documented,” said Stephen Aselage, chief executive officer of Retrophin. “The creation of this network is critical to broadening access to the Institute’s innovative resources and programs and will ultimately lead to expanded specialized care for patients and families in the rare disease community.”

Summar lauded Retrophin for being the first pharmaceutical company to donate to the CNRDI and welcomed others to join in support. “We hope [Retrophin is] not the last,” Summar said.

Mere weeks after the donation was announced, Horizon Pharma plc made an announcement of its own: The company would be donating to support clinical care teams dedicated to patients with rare diseases. The Horizon Pharma Clinical Care Endowment is designed to provide patients with rare diseases with both earlier interventions and more consistent treatments over their lifetimes.

The endowment, like the donation made by Retrophin, is made possible by a $3-million commitment over 6 years. It will provide stable support for an expert care team at the CNRDI, which will consist of a clinical geneticist and support team members, including genetic counselors, nutritionists, and social workers—all of whom specialize in the care of children with rare diseases.

“Patients and families with rare conditions deserve a medical home—a trusted place with the medical knowledge to provide quick clear answers and the expert care they need,” Summar said. “This endowment will support a dedicated team that can provide optimal comprehensive care to more patients and ensure that families have a trusted source for all aspects of their health care.”

Horizon’s commitment marks the first donor-funded endowment at the CNRDI.

“The Children’s National Rare Disease Institute is an important step in better defining the journey from diagnosis to treatment for people living with rare diseases and their families,” said Timothy P. Walbert, chairman, president, and chief executive officer, Horizon Pharma plc. “We consistently hear stories from people who spent many years in search of a diagnosis, followed by more years searching for the right team of specialists—suffering through a painful journey with devastating consequences. Our hope is that the Horizon Pharma Clinical Care Endowment and the Institute will disrupt this all-too-familiar rare disease trajectory by joining exceptional rare disease specialists together in one place.”

For as long as rare diseases have been around, the rare disease community has been stacked up against an old medical model that has overlooked its needs. Summar hopes these donations will help close that gap.

“A patient schedules an appointment, patient comes to a waiting room, [and] patient goes back to a room and waits for the physicians. Physicians come in, and then they go home. That’s fine, and that’s actually needed for a lot of families, but not for all of them,” Summar said. “One thing we are working toward, particularly in the Rare Disease Institute, is using technology to evaluate families early, [to] see if they need to come in and see if there’s testing that needs to be done when they come in to increase the value of the visit or see if the visit is even needed.”

Summar said the CNRDI is in the process of developing remote centers that will allow for patients and families to streamline care options without having to make a 3- or 4-hour commute or subject themselves to any infection found in an emergency department or general hospital setting.

“The lessons we’re learning from taking care of these patients and developing therapies in the CNRDI actually become quite relevant to common fields of medicine. I keep saying that we may be looking at what the future could bring in some ways. Now we have a whole generation of patients living much longer with a better quality of life, but they also need a medical home, which is why we provide the Institute. What’s really exciting about this is acknowledging that this whole thing is an integrated ecosystem. We have pharmaceutical companies developing rare disease products, we have patient advocacy groups pulling the patients together, and in the middle is the rare disease medical community where we are trying to diagnose and treat these patients.”

There’s no doubt that the recent news coming from the Children’s National Health System has created a buzz, particularly for those involved in the medical field. It’s well understood throughout the rare disease community that running a genetics or rare disease clinic with a positive margin is nearly impossible, and that’s why they’re typically embedded into larger medical centers. With any hope, these gifts will pay dividends for those individuals throughout the space who have worked tirelessly, and without some of the necessary resources, for years.

“We are starting to talk to some other companies who are very interested in doing something similar,” Summar said after the Retrophin donation was officially announced.

If 2018 continues like it started, he may get his wish.

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