The below is a conversation with Dr. Ed Neilan, Chief Medical and Scientific Officer at NORD, who oversees the program. The interview has been edited for length and clarity.

1. What is the goal behind NORD’s Rare Disease Centers of Excellence network?

The program is a game-changer for rare diseases and has the potential to transform the rare disease patient journey as we know it. When you look at the state of rare disease care today, it often takes years for patients to be accurately diagnosed, after visiting numerous specialists and sometimes receiving misdiagnoses, all while their illnesses progress, sometimes past the point of helpful intervention. The current health care system is not well designed to recognize and diagnose rare diseases. NORD wants to change that.

2. How does the program work?

This is the first and only designation program for centers serving the larger rare disease community, which includes approximately 7,000 rare diseases. The Centers of Excellence program offers patients access to cutting-edge health technologies and actively promotes interdisciplinary collaboration under one roof. Patients can be referred to a Rare Disease Center of Excellence when they need help with diagnosis, for treatment recommendations, or to have the center serve as a multispecialty “medical home” for their rare disease care, while maintaining communication and coordination with their local physician(s). There is also a multiplying effect, because the centers work together as a network to share expertise and collaborate on difficult cases and learning opportunities. Because of the commitment of everyone involved in this exciting program, we believe we are creating a national network that can offer rare disease patients access to the best possible medical care, no matter where they live in the United States.

As someone who has treated rare disease patients and run rare disease research for many years, I see how much potential this program has to address unmet needs in the rare disease community. First, for patients who feel they are not getting the answers they need, I see NORD’s designation of a nationwide network of Rare Disease Centers of Excellence as a powerful step toward helping those patients find high-capability institutions where it may be appropriate for them to seek second opinions, expert consultations, specialized treatment teams, or engagement with researchers working on their specific conditions. Second, these Centers of Excellence are going to work together on collaborative projects to advance the state of rare disease care and research, to move the field forward. We are honored to be leading this program on behalf of everyone involved as they work to improve rare disease patients’ health.

3. Let’s pause there for a minute. Explain how NORD’s Center of Excellence program seeks to change the field of rare disease care.

One of the reasons that NORD developed this program is that most of the approximately 7,000 rare diseases lack formal treatment guidelines or protocols, leaving millions of rare disease patients and their clinicians without access to definitive information about how to best manage patient health. We want to change that by pooling the expertise of specialists across the network to identify the best existing treatment guidelines or develop new guidelines where there are currently none. Similarly, we will facilitate the sharing of diagnostic expertise across the Centers of Excellence to help solve difficult cases and shorten the “diagnostic odyssey” of these patients. Part of the uncertainty in the diagnosis and treatment of rare diseases comes from the lack of a full understanding of the features and progression of rare diseases. This calls for more collaboration and research to learn the extent and natural history of these disorders.

Our approach is similar to the philosophy behind patient-driven research and natural history studies, where we are systematically capturing patient data and applying science to each person’s rare disease experience. This type of information is powerful. When you collect and aggregate this data, you can change what we know and move science forward at a rapid pace. We are taking this same concept and applying it to improving what we know about rare disease medical care. The best diagnostic algorithms and treatment protocols that come out of our Centers of Excellence program will eventually be used around the country and the world and will inform both clinical education and awareness of rare diseases.

4. How does NORD’s program differ from existing centers of excellence for specific rare diseases, such as cystic fibrosis, muscular dystrophy, ALS and certain cancers?

That is a great question! For some specific rare diseases, as your question implies, there are already some networks of centers of excellence that have been designated by other, disease-specific organizations. Those centers are doing great things to help their patients, and we do not intend to duplicate or “compete” with those programs. In fact, we are very pleased that many of the institutions where we are establishing generalized NORD Rare Disease Centers of Excellence are already home to clinics recognized as centers of excellence for specific diseases; we hope to continue to learn from those programs, in synergy, without detracting from them. Our network is designed to provide a medical resource for patients whose rare diseases do not yet have a designated care center.

5. Will genetic testing be offered at NORD’s Centers of Excellences?

Approximately 70-80% of rare diseases are genetic in origin, so certainly there is an opportunity to focus on genetic testing in our diagnostic protocols. Each center has genetic testing capabilities, on site or through local relationships, which will facilitate access to genetic testing. This was important to NORD as we set the criteria for what would constitute a Rare Disease Center of Excellence. Currently in the United States, there are widespread barriers to patients being able to access genetic testing in a timely manner, which included but are not limited to gaps in insurance coverage, shortages of medical geneticists and other healthcare providers trained in genetics, long wait times for appointments, and gaps in our knowledge as new genetic disorders continue to be discovered. The Rare Disease Centers of Excellence program aims to address those barriers for patients. I am really excited for the potential insights we could uncover when it comes to rare diseases and genetic testing. This could have implications for helping to advance the state of rare disease care and may also inform the work that NORD’s policy team undertakes regarding patient access to genetic testing, such as advocating for broader and easier health insurance coverage for appropriate genetic testing.

In addition to genetic testing, the network will also strive to leverage other new technologies, such as artificial intelligence, or AI, to recognize symptoms based on medical records, patient-reported data and genetics data, to offer the best diagnostic opportunities for rare diseases.

6. Are the Rare Disease Centers of Excellence planning to conduct research?

Conducting and producing research is a goal of the program. By cataloging the special areas of clinical expertise and the individual research interests of the many highly skilled and multidisciplinary faculty working with rare diseases across our centers, as a whole, we aim to spark and to facilitate collaborations between likeminded faculty across the network and between those who may already be treating patients with the same very rare, and often poorly understood diseases, without knowing how many such patients are being seen, or where they are being seen, and therefore not being able to share information and accelerate progress in the field.

There is also a tremendous potential to conduct clinical trials across the network. We intend to lower the current barriers to establishing multicenter clinical trials by building collaborative connections between the institutions hosting the NORD Rare Disease Centers of Excellence, to coordinate (through NORD when appropriate) funding for such research, and to implement best practices including patient-focused and flexible study designs. In particular, we’ve seen during the pandemic an increased interest in pharmaceutical companies and other sponsors running fully or partialized decentralized clinical trials, and with the NORD Rare Disease Centers of Excellence acting as hubs across the country, we should, through a variety of means, be able to increase access for patients to participate in research.

7. What are your goals for the program in its first year?

 Our first work will be to interconnect NORD and the newly designated NORD Rare Disease Centers of Excellence in a shared culture that is strongly collaborative and is supported by critical resources for coordination of work across institutions, such as a well-organized schedule of case conferences, advisory meetings, and an IT infrastructure that enables easy collaboration amongst busy experts at multiple sites. We also expect to involve rare disease patient advocates in advisory roles, alongside academics, to ensure effective attention to the multiple and broad unmet needs in the rare disease community. Undoubtedly then, we’ll also start to see real advances in rare disease clinical care and research. So, a year from now, I also hope and expect to tell you stories and share case studies of how we have helped patients on their rare disease journey, that we are starting to identify ways to diagnose rare diseases faster and with greater accuracy, and show data on how the Rare Disease Centers of Excellence network is breaking down barriers that patients face. For example, too often rare disease patients face geographical barriers, or financial barriers due to travel expenses and missing work, for appointments with experts.  Let’s make sure we break down those barriers. Let’s have clinicians across the country coming together to solve some of the persistent medical challenges that we have seen in rare diseases. Let’s put together care standards and help as many rare disease patients as we can.

Learn more at rarediseases.org/centersofexcellence.

The post Helping Rare Disease Patients: A Conversation with Dr. Neilan about the Rare Disease Centers of Excellence Program appeared first on NORD (National Organization for Rare Disorders).

Washington, DC, November 4, 2021— Today, the National Organization for Rare Disorders (NORD) announced 31 NORD Rare Disease Centers of Excellence across the United States, establishing a unique network of medical centers, clinics, and institutions to advance care and expand access for rare disease patients. The program is being led by NORD to promote outstanding treatment for rare disease patients regardless of disease or geography, elevate collaboration, improve standards of care, advance research, and increase awareness about rare diseases in the broader medical and patient communities.

The average rare disease diagnosis can take six years and require up to 12 specialists and multiple medical tests. By designating and establishing a network of specialized centers and experts, NORD is bringing together leaders in the field from across the country to reduce the time to diagnosis and improve the availability and coordination of multi-specialty clinical care. These Centers of Excellence will strive to push the rare disease field forward by collaborating to develop new care guidelines, improve medical and family education, create safe and effective referral pathways, and innovate around new treatments, therapies, and research. 

“Our belief is that the Center of Excellence program is the next big stride forward for rare disease treatment and patients – to improve health equity and create critical new connections to resources and specialists across our nation,” said Ed Neilan, Chief Scientific and Medical Officer, NORD. “NORD is committed to breaking down silos and building bridges so that people living with a rare disease can achieve their best health and well-being.” 

Each Center for Excellence was selected by NORD in a competitive application process requiring evidence of staffing with experts across multiple specialties to meet the needs of rare disease patients and significant contributions to rare disease patient education, physician training, and research. The NORD Rare Disease Centers of Excellence program is formulated to achieve better outcomes for all members of the rare disease community.  

The full list of NORD designated Rare Disease Centers of Excellence: 

Alabama  

• University of Alabama at Birmingham Medicine/Children’s of Alabama  

California  

• Children’s Hospital of Orange County/UC Irvine  
• University of California, San Francisco & UCSF Benioff Children’s Hospitals  

Colorado  

• University of Colorado Anschutz Medical Campus/Children’s Hospital Colorado/UCHealth 

Florida  

• University of Miami Miller School of Medicine 

Georgia  

• Emory University and Children’s Healthcare of Atlanta

Indiana  

• Indiana University Health-Indiana University School of Medicine

Iowa  

• University of Iowa Health Care  

Maryland  

• Johns Hopkins Medicine/Kennedy Krieger Institute  

Massachusetts  

• Mass General Hospital/Mass General Hospital for Children/Brigham and Women’s Hospital/Boston Children’s Hospital  

Minnesota  

• Mayo Clinic  
• M Health Fairview Masonic Children’s Hospital

Missouri  

• Washington University/BJC Healthcare  

Nebraska  

• UNMC Munroe-Meyer Institute, Omaha Children’s Hospital and Nebraska Medicine  

New York  

• Columbia University Irving Medical Center  
• Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai  

North Carolina  

• Duke Health Rare Disease Center 
• UNC Children’s – North Carolina Children’s Hospital  

Ohio  

• Cincinnati Children’s Hospital Medical Center  
• Nationwide Children’s Hospital/Ohio State University  

Oklahoma  

• OU Health/University of Oklahoma Health Sciences Center  

Pennsylvania  

• Penn Medicine/Children’s Hospital of Philadelphia  
• UPMC Center for Rare Disease Therapy  

Tennessee  

• Vanderbilt University Medical Center  

Texas  

• Baylor College of Medicine/Baylor St. Luke’s Medical Center/Texas Children’s Hospital  
• McGovern Medical School 
• UT Southwestern Medical Center  

Utah  

• University of Utah Medical Genetics  

Washington, D.C.  

• Rare Disease Institute at Children’s National Hospital  

Wisconsin  

• Children’s Wisconsin/Medical College of Wisconsin  
• University of Wisconsin Center for Rare Diseases  

NORD is looking to advance medical breakthroughs that serve individuals impacted by a rare disease. Any disease that affects fewer than 200,000 people in the United States is considered rare, according to the National Institutes of Health. There are over 7,000 rare diseases and 30 million Americans estimated to be currently living with rare diseases. More than 90% of rare diseases lack an FDA-approved treatment.  

For more information on the NORD Rare Disease Center of Excellence, click here.

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About the National Organization for Rare Disorders (NORD)
The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases in the United States. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. Since then, the organization has led the way in voicing the needs of the rare disease community, driving supportive policies, furthering education, advancing medical research, and providing patient and family services for those who need them most. Together with over 300 disease-specific member organizations, more than 15,000 Rare Action Network advocates across all 50 states, and national and global partners, NORD delivers on its mission to improve the lives of those impacted by rare diseases. Visit rarediseases.org. 

The post Committing to Care, Access, Equity and Research: NORD Announces 31 Rare Disease Centers of Excellence appeared first on NORD (National Organization for Rare Disorders).

1. How did you get started in the rare disease community?

I was motivated by my father who died of advanced metastatic melanoma when I was a teenager. I always wanted to make a difference in cancer since it’s very personal. The NBTS encompasses a collection of rare diseases that make up a bigger family of brain tumors. About 700,000 people are living with a primary brain tumor and a few hundred thousand more are living with metastatic cancer. I found my way to NBTS as a personal mission, as being in rare disease and cancer is a very compelling way to help people.

2. How has your experience as an attorney representing patients led you to leading the National Brain Tumor Society today?

I am an attorney with experience in public policy and nonprofit management. All the work I have done goes back to creating change for people facing life-threatening diseases, disorders, and conditions. When I saw the opportunity to join NBTS, it was based on prior experiences of helping people in different ways personally and professionally. It’s important to help and advocate for people living with brain tumors as they deserve to have a voice, and be represented.

3. How does the National Brain Tumor Society set itself apart from other related organizations?

NBTS is clear about what we are trying to do to cure brain tumors, reduce the burden of brain tumors, help individuals and families, and help the field of neurooncology. Sometimes there are differences or similarities between us and other organizations, but we try to communicate with other organizations to avoid overlap and duplication. We are passionate about honoring every donor’s dollar and making each dollar uniquely impactful. We constantly strive to deliver our mission effectively, by making sure it is on point, evidence-based, grounded in space, and keeps patients first.

4. How does the National Brain Tumor Society include diversity and health equity principles in its drug development and research initiatives?

First, we must recognize how inequities influence the whole system. Understanding the reasons for health disparities and knowing where those exist is important. We are working towards carrying out our mission in a way that is inclusive and improves equity. With all that in mind, we address how to leverage diversity and be more inclusive in our own organization internally. Externally, we focus on our fundraising and advocacy efforts. Over the last two years, we helped pass public policy that would help Medicaid-enrolled patients in clinical trials have access to coverage, since Medicaid typically leaves that coverage out and it can discriminate against low-income populations. We joined other cancer and health organizations to pass the Clinical Treatment Act (H.R.913) that became law last year. We want the community to know that NBTS is open to everyone, and that we want to help everyone regardless of any demographic. Brain tumors do not discriminate.

5. How do you remain hopeful that rare disease/cancer/brain tumor research and funding can continue to save lives?

We remain hopeful because we have looked at the track record for the last 10 years. For example, metastatic melanoma used to have very few treatment options. In the middle of the decade, the discovery was made about immuno-therapies, and we see strong survival rates as a result. We see advances across rare diseases thanks to genomics, including breaking diseases into smaller and smaller sub-diseases characterized by genetic subtype to match the right drug to the right patient at the right time. Determination, persistence, compassion, and drive to be inclusive to the people living with rare diseases must all be present. We have tried to implement these elements in our new Venture Philanthropy Fund, which injects seed capital into biotechs to incentivize them to enter the brain tumor space and partner with great medical institutions. This is a very giving society, and our cause and purpose truly make a difference in the brain tumor community.

6. In what ways does the National Brain Tumor Society highlight and amplify the patient voice in its own and unique way?

It is very important to amplify the patient’s voice, and through this we can create change. NBTS offers opportunities for the community to directly participate in advocacy and affect change. An example is the annual Head to the Hill advocacy day, which brings over 300 patients and caregivers to Capitol Hill (during the pandemic, hundreds more joined virtually) to help communicate with Congress about our public policy agenda. NBTS holds events across the country to bring between 60-100,000 people together to walk or ride together as one brain tumor community. It is also important that we help people come together and talk about their experiences. Once a month we host a large online support group which is free and has no agenda – you just come, show up, and you can bring up any topic you would like in a safe space. Speaking up and connecting with others is powerful and there are many ways to be heard through NBTS.

7. Is there a specific project or initiative in the past few years that you are particularly passionate about?

Our work over the past five years through our public policy program has resulted in 100 million more dollars coming into brain tumor research than past funding. As our advocacy program has grown, millions more have joined due to the intense focused pressure we have put on Congress and the Executive Branch to both raise the level of funding and do more with that funding. We’re proud of this accomplishment. The federal government is the largest source of brain tumor research, so that is where our policy efforts are directed. In addition to policy, we are passionate about our philanthropic programs such as Defeat GBM, Defeat Pediatric Brain Tumors, our Venture philanthropy fund, and more.

8. What’s the last book you read?

It was a gift from a friend: The Splendid and The Vile by Erik Larson. It is about Winston Churchill, the prime minister of England during some of the toughest battles of World War Two. I enjoy biographies and this felt appropriate to read in the past year as we have been under unique organizational and societal stresses with the pandemic, social unrest and injustice, and the election.

David most frequently checks his Twitter account: @dfarons

Interview by Alexandra Folleco, NORD’s 2021 summer intern for the Membership department.

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“Dr. Neilan brings to NORD broad expertise as a physician and researcher at a pivotal time when we are growing our patient-driven research and patient care programs,” said Peter L. Saltonstall, President and CEO of NORD. “Ed’s collaborative and multifaceted work in rare diseases, including research, medical practice, clinical trial design and execution, academia, and his drive to care for rare disease patients, will greatly enhance our work. His contributions will be critical as we work to close the gap for the 90% of rare diseases that do not yet have an FDA-approved treatment or cure.”

“NORD is leading efforts to positively transform the future for rare disease patients, both in how these diseases are studied and how patients live with a rare disease, and I am thrilled to join the team!” said Dr. Neilan. “We have a shared, long-standing commitment to helping rare disease patients, and I look forward to building programs to help fuel a new era of progress and improved quality of life for all people living with rare diseases.”

In his role, Dr. Neilan will oversee the development and implementation of research activities to advance medical research and translational science for rare diseases. His areas of focus will include evolving NORD’s IAMRARE® Natural History Studies platform, a patient-powered collaborative research initiative that serves as a catalyst for the development of rare disease treatments. He will also develop additional patient-focused innovation initiatives, work to grow medical services that improve patient care, and oversee strategies encouraging institutions and companies to develop new approaches to helping rare disease patients.

Prior to joining NORD, Dr. Neilan worked at Sanofi Genzyme, a biotechnology company, where he led global medical affairs strategy and execution for the rare neurological diseases portfolio and contributed medical expertise to clinical development efforts across multiple programs. Prior to that, he served as the President of the Medical Staff at Boston Children’s Hospital. As a staff physician, clinical geneticist and the director of quality improvement in the metabolism program at Boston Children’s, Dr. Neilan directly cared for and studied patients with many genetic diseases. He is an expert in clinical trial design and drug development, has contributed data that helped support the FDA and global regulatory approvals of five new rare disease therapies, has authored or co-authored multiple clinical trial protocols and safety and regulatory reports for global health authorities, and is a past NORD grantee.

After completing his undergraduate degree at Yale University, Dr. Neilan earned his MD and PhD degrees from Stanford University. He then completed residency and fellowship training at Harvard Medical School, where he subsequently also served as a faculty member for more than 12 years. Dr. Neilan is triple board-certified in pediatrics, clinical genetics and clinical biochemical genetics. He is a fellow of the American Academy of Pediatrics and the American College of Medical Genetics and Genomics.

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According to the FDA, any disease, disorder, illness or condition affecting fewer than 200,000 people in the United States is considered rare. There are approximately 7,000 rare diseases and it’s estimated that 25-30 million Americans have rare diseases. More than 90% of rare diseases have no FDA-approved treatment. Globally, it is estimated that 350 million individuals are impacted by a rare disease.

Therapeutic Area User Guides provide examples and guidance on implementing CDISC standards so that data can be structured effectively and easily analyzed. CDISC Standards drive operational efficiencies within the organizations that use them, expedite the regulatory review process and reduce time to market for treatments developed based on patient data.

“We are grateful for the opportunity to work with NORD on this much-needed initiative,” said Dave Evans, CDISC President and CEO. “NORD’s support and partnership will allow CDISC to develop standards that facilitate more powerful research, enabling the discovery of new treatments to help patients.”

“We have seen through NORD’s IAMRARE® registry platform the immense value of patient-powered research to serve as a catalyst for the development of rare disease treatments,” said Pamela Gavin, NORD Executive Vice-President and COO.  “We believe that by partnering with CDISC, we can help set global data standards that will lead to greater participation in research and fuel a new era of patient-centered innovation.”

To date, CDISC has developed Therapeutic Area User Guides for over 40 disease areas.

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