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 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).

The first video, What is Patient-Focused Drug Development (PFDD)?, provides a brief explanation of what patient-focused drug development is and how the patient voice is incorporated into regulatory decision making on drug development. The second video, How Will RDCA-DAP® Support Patient-Focused Drug Development?, explains how the RDCA-DAP can support PFDD and help to ensure that patient voices are heard in rare disease research. 

The video series aims to paint a picture of the current research environment and showcase how patients and caregivers can become involved in and support research that could have life-changing or even life-saving outcomes for families like theirs. The videos explain how RDCA-DAP can accelerate development of treatments, and how patients and caregivers can support this process by joining with others to share data in registries and natural history studies.  

RDCA-DAP® is fully funded with a federal grant awarded to the Critical Path Institute.
 

The post The Importance of Patient Voices and Data Analytics appeared first on NORD (National Organization for Rare Disorders).

What motivated you to start RCRF?

I am a rare cancer survivor, and I was diagnosed with ocular melanoma at the age of twenty-eight in 2012. Following my diagnosis, I tried to learn more about why we weren’t treating patients with ocular melanoma and other rare cancers adequately. I thought there would be scientific questions that we hadn’t been able to work through yet, but instead I heard repeatedly that researchers don’t have any data, models, and resources to lead to the work of testing these scientific radical hypotheses. Similarly, the narrative I heard from the physicians who were treating my dad, who at the time was diagnosed with glioblastoma, was that researchers don’t have the fundamental research infrastructure to do their jobs.

How has your experience in global renewable energy project development and solar product distribution translated to your leadership role at RCRF and in the rare disease space?

When I look at the rare cancer research ecosystem, a lot of organizations and researchers struggle with having to reinvent the wheel over and over again. The metaphor that I like to use is imagine that you were set out to publish a book and came to the conclusion that you needed to invent the printing press in order to get the book published. What we have tried to do is create shared service solutions that can support the research efforts of researchers and clinicians by doing the nuts and bolts or back-office work that must be done for the research to progress, which may not be the highest and best use of researchers.

A big part of what we’ve done in some of my global renewable energy firms is think about how to enable consumers to contribute and participate in solving climate change more directly. A lot of what Pattern.org does is the same, by empowering patients to be proactive in trying to contribute to the research that is happening on their rare disease, the development of new therapies and ultimately cures. If we can unlock patients as resources in that effort and enable them to contribute more fully to the development of new therapies, we have high conviction that we can get to better solutions much faster. A lot of what Pattern.org is about is moving patients from being recipients of care to being active stakeholders and trying to push the rare cancer research movement forward to get better therapies faster.

How does your team’s diverse backgrounds and expertise contribute to RCRF’s mission of enabling rare cancer research?

Our team might be small, but our stakeholder community is large. Pattern.org is driven entirely in an online format for the patient informed consent process, which means that anyone in the country, regardless of where they are, can sign up and participate. They don’t have to go to a comprehensive cancer center or a center of excellence. They can go to a regional health center near their home and still contribute to the research enterprise. This has enabled us to address a much larger and more diverse patient population than what most comprehensive cancer centers can pull from locally, or from those who are fortunate enough to have the means for travelling for care.

We have folks from a range of different backgrounds within our team and from partner organizations that address many different patient communities.  It is similar to NORD’s Rare Cancer Coalition.

A great opportunity we have been focusing on is working with the Veterans Administration to collaborate with certain hospital groups who work with underrepresented populations, especially in the medical research enterprise whether that’s due to race, ethnicity, socioeconomic status, etc. With Pattern.org, we can over index on these underrepresented populations in medical research and increase their participation rates because we have the flexibility with the online model to reach them where they are, instead of needing them to come to us. This has been the focus for us in determining how to enable historically underrepresented communities to participate more in the research enterprise and make sure their unique attributes are being reflected in these libraries of data sets, where they haven’t shown up before.

 How does RCRF include diversity and health equity in its research initiatives and infrastructure?

Pattern.org was virtual before COVID-19 hit and that model of “patient informed consent” was a founding part of our operating model. COVID-19 was hard for Pattern.org in certain ways because people deferred elective surgeries – and we can only collect a fresh viable sample of a tumor, for example, after a surgery. Our patient volumes dropped because people weren’t going in for surgery for a big chunk of last year.

This year, we have started to turn a corner. The volume of surgeries has recovered and our research partners, including the MD Anderson Cancer Center and Memorial Sloan Kettering Cancer Center, have become more comfortable with telemedicine as a result of the pandemic.

We had historically thought of Pattern.org as a one-way highway driving from patients and their surgeries to research centers or moving viable tissue samples and medical records from patient to researcher to help drive research. We are now getting better and faster, which allows for a growing number of our research partners to generate actionable insights to potentially inform patient care. For the first time we can start to think about building the second lane of the highway from researchers and leading cancer centers back to patients, who have historically struggled to gain access to care for cancer.

We recently did a collection at a rural hospital in Alabama where a patient did not have the resources or means to travel to a comprehensive cancer center for care but did have the opportunity to donate their tumor sample to a research initiative with one of our research partners. The goal is to identify targetable mutations in a rare cancer which hopefully will lead to a drug combination that could be the most impactful for that patient based on their unique molecular profile. For that rural Alabama patient, we hope to identify those mutations and drug combination in time for them to make their next treatment decision. What usually happens is a rare disease patient visits a hospital in a rural area where the oncologist doesn’t get enough volume of any given rare cancer to really build the expertise to treat it. If Pattern.org can enable us to do molecular profiling at a center of excellence and get data-backed treatment recommendations to a patient and their local provider fast enough, we can start to reduce the disparities in patient outcomes in rural settings.

We are excited about our research partners, who are thinking of new ways to deliver medical services remotely, which was partially driven by having to do telemedicine during the pandemic. I am excited about reducing disparities with our research partners’ increased willingness and ability to generate treatment insights fast enough for patients and their clinicians to have better treatment options and make better treatment decisions.

Preferred social media:

I most frequently check my LinkedIn.

What is a hobby you picked up or enjoyed a lot during the pandemic?

I have been playing the game Go a lot recently and it’s been hard trying to find people in the US to play with. It is quite popular in East Asia, and I played it when I lived in Shanghai for about four years, where I worked on utility scale renewables, inter-industrial energy efficiency, and carbon financing under the United Nations. The game has white and black stones on a grid/board, and it has been known to be the hardest game, after chess.

The post Head of the Herd: Mark Laabs, Rare Cancer Research Foundation (RCRF) appeared first on NORD (National Organization for Rare Disorders).

The new study, the Gorlin Syndrome Alliance Patient Registry (GSAPR), creates a platform for patients around the world to share information about Gorlin syndrome. Its purpose is to build an international resource to be used by scientists in future research.

“The GSAPR will help advance research by compiling data from individual patient’s experiences, putting those together to eventually find better treatments and, possibly a cure someday, for Gorlin syndrome,” says Julie Breneiser, Executive Director of the GSA, patient, and mother to two affected adults.

To help drive awareness and participation, the GSA will highlight the registry on GSA’s website and use social media campaigns to recruit and encourage participation from the GSA patient community.

“Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Breneiser. “The success of the registry is dependent upon community participation. By participating, we are giving the gift of hope for the future to one and other.”

The GSAPR is a natural history study that consists of electronic surveys to collect information about the patient experience and disease progression. Patients, 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 GSA may share the anonymous data with fully vetted individuals or institutions conducting research or clinical trials, as approved by the study’s governing board that includes scientists, doctors and patient advocates.

The GSA is launching the study in collaboration with NORD, an independent nonprofit that built its natural history study platform as part of its mission to help identify and treat all 7,000 rare diseases. The GSA is a member of NORD, and the organizations work together to eliminate the challenges that rare disease patients face.

“Patient-powered registries are changing the landscape of rare disease research,” said Stephanie Christopher, NORD’s Associate Director of Research Programs. “By building strong partnerships within the community and with leading scientific experts, NORD’s Registry Program is well-positioned to address knowledge gaps and accelerate the development of discoveries that save lives. We are so pleased to welcome the Gorlin Syndrome Alliance as a partner in our IAMRARE^® Registry Community!”

Gorlin syndrome is a rare disorder that can affect many organ systems in the human body. This syndrome is caused by a genetic mutation of the tumor suppressor gene (PTCH) found in the hedgehog signaling pathway. The mutation is either inherited or the result of a spontaneous mutation at conception. Approximately 75% of affected persons today have a parent or relative with Gorlin syndrome. Affected individuals can have a wide variety of manifestations, the most common being basal cell carcinoma (BCC). Other manifestations include jaw cysts (keratocystic odontogenic tumors. or KCOTS), pits of the palms and soles, enlarged skulls and prominent foreheads, benign skin cysts, calcifications in the midline of the brain, rib abnormalities, and spina bifida of the thoracic and cervical spine. Generally, Gorlin syndrome requires constant, repeated surveillance, frequent doctor visits, and countless surgeries. In addition to the medical complications, individuals with Gorlin syndrome may be subjected to psychological issues including feelings of isolation, low self-esteem, and depression due to the rareness of the syndrome and physical appearance of their skin. Gorlin syndrome is a rare genetic disorder that occurs in approximately one out of every 31,000 people.   For more information, visit https://gorlinsyndrome.org/research/gsa-registry/ or join the study at gorlinsyndrome.iamrare.org.

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About the Gorlin Syndrome Alliance

The Gorlin Syndrome Alliance is a national 501(c)3 organization who thoughtfully supports members who are directly affected by the condition, comprehensively educates them as well as those who entrusted with their care, and supports the work of all who are aggressively seeking treatments and a cure for Gorlin Syndrome and its many manifestations. The organization has a strong desire to build upon and strengthen our alliance between patients, medical professionals, the pharmacological industry, professional staff and leadership while continuing our commitment to provide strong emotional and informational support to our members.

About National Organization for Rare Disorders, Inc. (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 Gorlin Syndrome Alliance and NORD Launch Natural History Study for Gorlin Syndrome appeared first on NORD (National Organization for Rare Disorders).