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).

Register for your free pass today: https://bit.ly/3g88LqA

The post World Orphan Drug Congress 2021 appeared first on NORD (National Organization for Rare Disorders).

According to the report, the US Food and Drug Administration (FDA) approved 599 orphan products to treat rare diseases between 1983 and July 2020, 552 of which were on the market at the time of the study. Before the Orphan Drug Act became law in 1983, only 38 orphan products existed. The majority (75%) of FDA-approved orphan products treat one rare disease and have no other use. The increase in number of FDA orphan approvals since 1983, and the limited use of most orphan products for treating rare diseases only, underscore the significance of the Orphan Drug Act in helping to bring novel rare disease treatments to market.

In recent years, an increasing number of orphan products have become available that are FDA-approved to treat more than one medical condition (or “indication”). Avalere’s analysis shows that 154 orphan products were first FDA-approved to treat a single rare disease and, after additional research, earned one or more orphan indications. In addition, a small number (37) of orphan products were initially FDA-approved to treat a common medical condition and, upon further clinical study, earned orphan indication(s). Still, just 10% of all orphan products have three or more orphan indications, demonstrating that the majority of orphan products treat very few rare diseases and, in turn, small numbers of rare disease patients.

In the US, a rare disease is one that affects fewer than 200,000 people. Approximately 7,000 rare diseases have been identified. While each rare disease affects a small number of people, together rare diseases affect more than 25 million Americans. More than 90% of rare diseases have no FDA-approved treatment.

While most rare diseases do not yet have an FDA-approved treatment, some have multiple treatments available due to the presence of generics and biosimilars. At the time of the study, 158 orphan products were eligible for generic/biosimilar competition due to expired patents and orphan drug exclusivity; generics/biosimilars were available for 81 (51%) of these products. 

The researchers examined why the majority (394) of orphan products were not eligible for generic or biosimilar competition, and found that 80% of orphan products were protected from competition due to the patent life of the product, and 20% were protected because of orphan drug exclusivity. Notably, 22% of all orphan products had patent protections lasting more than 20 years. 

“More than 9 out of 10 orphan products on the market today would never have been developed without the Orphan Drug Act,” said Peter L. Saltonstall, President and CEO of NORD. “The vast majority of people with rare diseases still have no treatment, and we need government to provide a framework that helps patients by encouraging the development of innovative therapies, and spurs competition after a reasonable amount of time.” 

The report, “Orphan Drugs in the United States: An Examination of Patents and Orphan Drug Exclusivity,” is available at rarediseases.org/rareinsights.

The post New Study Investigates the Number of Available Orphan Products, Generics and Biosimilars appeared first on NORD (National Organization for Rare Disorders).

Launched by C-Path and NORD through an FDA grant, the goal of the new platform is to accelerate the development of cures by addressing the need to better characterize rare diseases.

TUCSON, Ariz. and WASHINGTON, September 19, 2019 — The Critical Path Institute (C-Path) and the National Organization for Rare Disorders® (NORD) launched the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) in Rockville, MD on Tuesday, Sept. 17. The platform, funded by a cooperative agreement through the Food and Drug Administration, [Critical Path Public-Private Partnerships Grant Number U18 FD005320], will provide data and analytics to aid in the understanding of rare diseases and to inform long-term drug development and support innovative trial designs.

“People with rare diseases need treatments; we need to do what we can to make development of those treatments as efficient, effective and fast as possible,” said Center for Drug Evaluation and Research Director Janet Woodcock, MD. “The way to do that is to have all the data we’ve been talking about brought to bear on how we test the interventions — the Rare Disease Cures Accelerator-Data and Analytics Platform is the vehicle that can deliver that data to the developers and the community.”

The launch meeting, attended by more than 150 individuals from patient groups, industry and regulatory agencies, plus hundreds more via live stream, served to inform the rare disease community about the new platform, and to seek input on its development. FDA representatives Theresa Mullin, PhD, Associate Director for Strategic Initiatives and Billy Dunn, MD, Director, Division of Neurology Products, explained how RDCA-DAP fits into the FDA’s vision for the future of drug development for rare diseases, and how it will provide tools to aid in understanding the trajectory of rare diseases and accelerate development of new treatments and cures. Dunn emphasized the importance of sharing and aggregating data, especially in the context of rare diseases, and how this helps to inform clinical trial design.

“We have tremendous experience with C-Path and NORD with regard to our approaches to data. It’s truly altruistic and it’s about bettering the community and allowing every member of the scientific and patient community to benefit from aggregated data,” Dunn said. “There’s increased recognition in the scientific community that being a good scientific citizen means sharing your data.”

Panels of representatives from industry and patient groups discussed problems encountered in rare disease drug development and the need for this infrastructure to help get past those bottlenecks. Several successful programs that have accelerated efforts to develop treatments in specific disease areas were highlighted, which will inform the development of this new pan-rare disease platform. RDCA-DAP is designed to collaborate with existing efforts in this space.

“Getting all the key opinion leaders, patients and key stakeholders involved is absolutely essential,” said Rosángel Cruz, MS, Director of Research and Clinical Affairs, Cure SMA. “Let’s get together and learn each other’s language. Sometimes in rare diseases we end up working in silos and as such, data ends up in silos, and there isn’t a way for us to all come together and share data and learnings from that data. RDCA-DAP is important to the entire rare disease community.”

NORD Director of Research Programs Vanessa Boulanger, MS, described the IAMRARE Registry Program that will serve as an initiation point for stakeholders looking to systematically collect natural history study and patient registry data. The data can be shared with the RDCA-DAP, as one way to ensure that the rare disease community informs the development, utilization and impact of the platform. C-Path Director of Clinical Pharmacology and Quantitative Medicine Klaus Romero, MD, MS, described the infrastructure that is already in place to aggregate data at C-Path and how it may be utilized by the rare disease community to accelerate drug development,  as well as new features being designed specifically for RDCA-DAP.

Groups interested in contributing data to the effort, collaborating on the development of the platform or using the database may visit, c-path.org/rdca-dap or email rdcadap@c-path.org for more information. The platform is open to accept data immediately, but the user interface and analytics are still under development and will be available in the next six months, with more sophisticated analytics tools developed over time.

About Critical Path Institute

Critical Path Institute (C-Path) is an independent, nonprofit organization established in 2005 as a public and private partnership. C-Path’s mission is to catalyze the development of new approaches that advance medical innovation and regulatory science, accelerating the path to a healthier world. An international leader in forming collaborations, C-Path has established numerous global consortia that currently include more than 1,600 scientists from government and regulatory agencies, academia, patient organizations, disease foundations, and dozens of pharmaceutical and biotech companies. C-Path US is headquartered in Tucson, Arizona and C-Path, Ltd. EU is headquartered in Dublin, Ireland, with additional staff in multiple other locations. For more information, visit c-path.org and c-path.eu.

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. NORD is committed to the identification, treatment and cure of the more than 7,000 rare diseases, of which approximately 90% are still without an FDA-approved treatment or therapy. 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. For more than 35 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research and providing patient and family services for those who need them most. NORD is made strong together with over 275 disease-specific member organizations and their communities and collaborates with many other organizations on specific causes of importance to the rare disease community. For more information, visit rarediseases.org.

Contacts:

Kissy Black, C-Path

615.310.1894 | kblack@c-path.org

Laura Mullen, NORD

203.304.7258 | lmullen@rarediseases.org

The post Innovative Data and Analytics Platform to Accelerate Drug Development for Rare Diseases appeared first on NORD (National Organization for Rare Disorders).

The collaborative project between the organizations will kick off at a launch meeting in September and will aim to reduce barriers for the development of new treatments and cures for rare diseases.

TUCSON, Ariz. and WASHINGTON, August 7, 2019 — The Critical Path Institute (C-Path) and the National Organization for Rare Disorders® (NORD) will host a meeting on Tuesday, September 17 in Bethesda, MD to formally launch development of a new rare disease data and analytics platform. Funded by a cooperative agreement through the Food and Drug Administration, [Critical Path Public-Private Partnerships Grant Number U18 FD005320 from the US Food and Drug Administration] the goal of the platform is to accelerate the movement of therapies from bench to bedside for rare diseases. The platform will provide the infrastructure for a sustainable, cooperative scientific approach to clinical trial readiness in rare diseases by addressing vast knowledge gaps about the natural course of disease, the clinical evaluation of new treatments, and patients’ perspective on disease and treatment.

The Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) will provide a centralized and standardized infrastructure to support and accelerate rare disease characterization with the goal of accelerating therapy development. The robust integrated platform will include integrated rare disease data from various sources such as clinical trials, observational studies, real world data and patient registries — including those within NORD’s IAMRARETM registry platform — and an analytics platform that will allow efficient and effective interrogation of that data to generate solutions to inform clinical trial design and regulatory review.

“For people living with rare diseases, time is of the essence,” said Joseph Scheeren, PharmD, C-Path President and Chief Executive Officer. “By leveraging the rare disease community access and data of NORD and the data curation, aggregation, governance and advanced analytics expertise of C-Path, we are poised to make a significant impact on rare disease drug development by providing quality data that will inform clinical trial design and accelerate the development of therapies.” 

“Currently, more than 25 million people in the United States are affected by one or more of the over 7,000 rare diseases,” stated Peter L. Saltonstall, NORD President and Chief Executive Officer. “Drug development for these diseases is often impeded due to the low affected patient numbers and a limited understanding of how rare diseases progress or how to measure clinical improvements. FDA-approved treatments exist for only 10% of rare diseases; with this collaboration we can change that statistic for the better for our rare community.”

Meeting attendees will include representatives from across the community including regulators, patient organizations, clinicians, researchers and pharmaceutical companies interested in rare disease drug development. Attendees will have the opportunity to learn about the goals of the RDCA-DAP and how to engage in the early stages of this effort.

Register for the meeting here: https://bit.ly/2YOj3jl

About Critical Path Institute

Critical Path Institute (C-Path) is an independent, nonprofit organization established in 2005 as a public and private partnership. C-Path’s mission is to catalyze the development of new approaches that advance medical innovation and regulatory science, accelerating the path to a healthier world. An international leader in forming collaborations, C-Path has established numerous global consortia that currently include more than 1,600 scientists from government and regulatory agencies, academia, patient organizations, disease foundations, and dozens of pharmaceutical and biotech companies. C-Path US is headquartered in Tucson, Arizona and C-Path, Ltd. EU is headquartered in Dublin, Ireland, with additional staff in multiple other locations. For more information, visit c-path.org and c-path.eu.

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. NORD is committed to the identification, treatment and cure of the more than 7,000 rare diseases, of which approximately 90% are still without an FDA-approved treatment or therapy. 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. For more than 35 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research and providing patient and family services for those who need them most. NORD is made strong together with over 275 disease-specific member organizations and their communities and collaborates with many other organizations on specific causes of importance to the rare disease community. For more information, visit rarediseases.org.

Contacts: 

Kissy Black

C-Path

615.310.1894

kblack@c-path.org

Laura Mullen

NORD

203.304.7258

The post FUNDED BY FDA, C-PATH and NORD TO LAUNCH RARE DISEASE DATA ANALYTICS PLATFORM appeared first on NORD (National Organization for Rare Disorders).