When evaluating potential new treatments and reviewing clinical trials, the perspectives of patients and caregivers help government regulators (like FDA) and drug developers understand what matters most to those directly impacted by these drugs. To share those community perspectives, NORD is proud to organize and host externally led Patient-Focused Drug Development (EL-PFDD) meetings, innovative events that provide an opportunity for families and patients to share critical information about the impact of a rare disease on their daily lives and provide valuable insight for FDA and other key stakeholders, including researchers, medical product developers and health care providers. 

On May 4, NORD hosted one of these critically important gatherings with FDA personnel, featuring the Post-Transplant Lymphoproliferative Disorder (PTLD) community. For the safety of the community, it was a fully virtual meeting, and featured live, engaging, interactive components, including polling, patient remarks, and engagement with federal decisionmakers and researchers. The four–hour EL-PFDD meeting was host to over 100 attendees and featured honest testimonials from parents, family members, caregivers, advocates, and community members who shared the burdens and symptoms of PTLD and hope for more robust treatment and cures in the future.  

The goals of the meeting were to tell stories and provide a robust understanding of how individuals with PTLD view their quality of life, which aspects of the disease are most challenging for them, and what actions they currently take to treat this disease. Caregivers and patients shared in-depth stories of how the disease manifested in their lives and wreaked havoc on their livelihoods, health, relationships, and more.  

Swapna Kakani, who was diagnosed with PTLD after a small intestine transplant in 2014, kicked off the meeting with a powerful message about the stories shared in the meeting: “Our vulnerability in our words is to ask you to have compassion and meet us where we are today to have health AND life alongside a PTLD diagnosis. Both are not mutually exclusive.” This set the tone for a productive and compelling conversation throughout the rest of the day. 

The audience heard directly from patients who recounted their unpredictable daily struggles with the disease’s widespread symptoms and what comes with such burdens, including from Ola Ojewumi, and the added challenges she faced from an inclusion standpoint. “During cancer treatment, my clinicians spoke with me about treatment outcomes for African American patients or provide resources to learn more about the drug. I was hesitant to ask about race and ethnicity because discussions about race is still seen as taboo in society. I was afraid my concerns would be dismissed or seen as insignificant. Representation matters when it comes to clinical trials for cancer treatment.” 

Parent and caregiver Greg Tufaro spoke about the devastating and consuming impact of the disease on his late daughter, Marisa. “My wife, Cyndi, and I are eternally grateful for the time God blessed us with Marisa. But we struggle daily to live with the tragic irony that the transplant performed to save her life inevitably claimed it, along with the heart of a donor whose family is also grieving… Marisa spent 161 of the last 214 days of her life as a patient at a nationally renowned children’s hospital, where dozens of doctors and nurses, profoundly impacted by her remarkable courage and will to survive, were reduced to tears upon her untimely passing.” 

Even for those such as Marianna DeLeon, who does not currently have signs of PTLD, there is still concern about what the future holds: “I am beyond happy to have had the amazing and unexpected gift of going into remission, but I will always bear the scars of not only my PTLD, but of the harsh, traumatic treatments I needed to survive it.” 

However, this meeting was not just designed to share stories, but to make progress and build on lessons learned. The second half of the meeting focused on treatments and facilitated audience discussion to urge strategic planning for next steps. The results of this meeting will be shared publicly in a “Voice of the Patient” report to inform the development of potential treatments that can improve the lives of patients living with PTLD and those who are diagnosed in the future.   

NORD would like to commend and recognize the great courage of all the panelists and speakers, and we are very grateful for their openness to share life experiences and needs. To view all the heartfelt stories and the entire meeting, please visit rarediseases.org/externally-led-post-transplant-lymphoproliferative-disorder-patient-focused-drug-meeting.

NORD is thankful to have partners in the rare disease field interested in hearing patients’ and caregivers’ perspectives, who can help understand hopes for future treatments, treatment side effects patients are willing to tolerate, the medical risks they are willing to take in clinical trials, and their interests and challenges in participating in clinical trials. As Rebekah Palmer, a PTLD patient said in the meeting’s closing remarks, “It is my greatest hope that these stories can help inform and improve the care received and quality of life for future generations living with PTLD.”  

NORD applied to the FDA and was granted approval to host an EL-PFDD meeting focused on pyruvate kinase deficiency (PKD) in 2019, Krabbe disease in late 2020, PTLD last week, and is planning to host a PFDD in late 2022 for another rare disease, Galactosemia, in conjunction with the Galactosemia Foundation. PFDDs are one of the most important ways the voice of rare disease patients and caregivers can be heard and utilized in decision making. Each year, NORD allocates resources and provides additional guidance and leadership to help a few groups and disease communities with need in hosting PFDDs and bring patient experiences directly to decisionmakers. 

The post NORD Hosts the Largest Gathering of a Rare, Post-Transplant Cancer in History appeared first on NORD (National Organization for Rare Disorders).

April 29, 2022, Washington, DC – Today, the National Organization for Rare Disorders (NORD®) announced three new requests for proposal (RFP) for grant funding related to the following rare diseases: Autoimmune Polyglandular Syndrome Type 1 (APS-1), Levy-Yeboa Syndrome (LYS), and Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS). The NORD Jayne Holtzer Rare Disease Research Grants Program provides seed-money grants to qualified investigators for scientific and clinical research. NORD’s program provides grants for the study of diseases for which there are few other sources of funding. 

• With funding from the APS Type 1 Foundation, NORD is accepting applications for one grant of $50,000 for scientific and/or clinical research studies related to APS-1. Deadline for letters of intent is Tuesday, June 21. More information and to apply. 
• With fundraising by the Maxwell Family, NORD is accepting applications for one grant up to $40,000 for scientific and/or clinical research studies related to LYS. Deadline for letters of intent is Tuesday, June 21. More information and to apply. 
• With funding from the MMIHS Foundation, NORD is accepting applications for one grant of $30,000 for scientific and/or clinical research studies related to MMIHS . Deadline for letters of intent is Tuesday, June 21. More information and to apply. 

Grants will be awarded to qualified researchers to initiate small scientific research studies or clinical trials, the results of which could be used to obtain funding from the National Institutes for Health (NIH), US Food and Drug Administration (FDA), or other funding agencies, or to attract a corporate sponsor. 

“Since 1989, NORD’s grants have led to the development of two FDA-approved treatments and many peer-reviewed publications. Over 200 grants have been awarded, totaling over $9 million in approved funding. The vision behind these critical study grants is to ultimately lead to new diagnostics, treatments, and cures for rare diseases,” said Aliza Fink, Director, Research Programs, NORD. 

To learn more or submit to the 2022 NORD Research Grants Cycle, visit the NORD website.

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 17,000 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 NORD Announces over $100,000 in Grant Funding Available for Rare Disease Research appeared first on NORD (National Organization for Rare Disorders).

The new study, Wolfram Syndrome Global Patient Registry, creates a platform for patients around the world to share information about Wolfram syndrome. Its purpose is to build an international resource to be used by scientists in future research. Wolfram syndrome is a rare genetic disorder that occurs in approximately one in 200,000 to 500,000 people. Wolfram syndrome is often fatal by mid-adulthood due to complications from the many features of the condition, such as health problems related to diabetes or neurological problems. It is crucial to discover and clinically test successful treatment options with the aim to stop the progression of the disease, but rare disease is often overlooked by pharmaceutical innovators from developing products for extremely small patient populations, financial support continues to be the single limiting factor to help patients.

The Snow Foundation for Wolfram Syndrome Research is empowering families with Wolfram Syndrome to help move research forward. To help drive awareness and participation, The Snow Foundation will promote the first-ever WS global patient owned registry via our social media outlets.

“Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Dr. Sarah Gladstone. “The success of the registry is dependent upon community participation.”

Wolfram Syndrome Global Patient Registry is a natural history study that consists of electronic surveys to collect information about the patient experience and disease progression. Patients, or their caregivers or guardians, can enter information from anywhere in the world. The data is made anonymous and stored securely in an online portal called a registry. The Snow Foundation may share the data with individuals or institutions conducting research or clinical trials, as approved by the study’s governing board that includes scientists, doctors and patient advocates.

The Snow Foundation for Wolfram Syndrome Research is launching the study in collaboration with the National Organization for Rare Disorders (NORD), an independent charity that built its natural history study platform as part of its mission to help identify and treat all 7,000 rare diseases. The Snow Foundation is a member of NORD, and the organizations work together to eliminate the challenges that rare disease patients face.

“This new registry has tremendous promise as a strong partnership that engages the patient community and addresses current knowledge gaps for [disease]. NORD is thrilled to be a part of driving research and innovation-based outcomes for all of the families in the Wolfram syndrome community,” said Aliza Fink, Director of Research Programs, NORD.

For more information, visit http:/thesnowfoundation.org/wsglobal-patient-registry/.

###

About The Snow Foundation for Wolfram Syndrome Research

The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss, and neurodegeneration. We are proud to be partnering with NORD to implement the first-ever Wolfram syndrome global patient owned registry, a priority in the field of rare disease. Our goal is to improve patient care, strengthen our voice, and improve the chance for quicker drug development. The Snow Foundation’s goal is to create a world without Wolfram syndrome.

About 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 The Snow Foundation for Wolfram Syndrome Research and NORD® Launch Natural History Study of Wolfram Syndrome appeared first on NORD (National Organization for Rare Disorders).

January 20, 2022, Washington, DC – Today, the National Organization for Rare Disorders (NORD®) announced enhanced learning and updated courses now available through its innovative RareLaunch® program. Throughout its long history, NORD has been committed to supporting patients and families looking to start nonprofits and to nonprofits looking to expand into research.

With support from the Chan Zuckerberg Initiative, NORD’s RareLaunch provides an accessible, self-guided educational platform that allows an individual to explore the steps to start a nonprofit and/or to engage in starting or expanding research efforts as a nonprofit leader. The updated platform integrates videos from NORD’s popular and well-reviewed RareLaunch workshops conducted in winter 2020 and spring 2021, in which rare disease advocates and other experts in the field of nonprofit governance and research offered best practices and training to the community.

Since launching, nearly 1,000 participants have registered for the workshops, and more than 700 additional people have viewed the workshop content on demand.

“NORD is tirelessly committed to empowering all those who are working on behalf of the nearly 30 million Americans impacted by a rare disease. We are thrilled to build on our history of community engagement and leadership building with the latest addition to the RareLaunch program. Today’s release will serve as a springboard for all the individuals, families and innovators founding much-needed rare nonprofits here in the United States and around the globe,” said Pamela Gavin, Executive Vice President, NORD.

RareLaunch currently offers two dynamic courses, Forming a Foundation and Research Ready. Forming a Foundation provides education and training for interested patients and caregivers looking to form rare-disease-focused nonprofits. Research Ready supports the efforts of patient organizations to effectively prepare for scientific research and the creation of rare disease registries. Both courses emphasize capacity building and expanding confidence at a pivotal stage in a rare disease community’s growth and development.

There are over 7,000 rare diseases and 30 million Americans estimated to be currently living with rare diseases. It is estimated that more than 50% of rare diseases don’t have any organized representation or a supporting organization, and more than 90% of rare diseases lack an FDA-approved treatment.

To learn more or register for the RareLaunch program, visit learn.rarediseases.org.

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 NORD’s RareLaunch Program Announces Expanded Course Learning to Help Launch and Grow Rare Disease Nonprofits appeared first on NORD (National Organization for Rare Disorders).

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).