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. 

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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.

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As of January 1, 2020, 564 orphan products were approved by the US Food and Drug Administration (FDA) to treat 838 rare diseases (or “indications”). Thirty percent of all orphan indications were approved in the three years prior to the study, which is based on 2019 data. Multiple uses for the same medicine have become increasingly common, particularly in cancer and autoimmune diseases, as improved understanding of biological pathways allows for a single therapy to treat numerous rare and common conditions. Still, most orphan products treat only one rare disease. 

The report also demonstrates that patients are gaining access to multiple treatment options due to generics and biosimilars entering the market, in many cases, even when there is a term of orphan drug exclusivity in effect. 

“Drug pricing is an issue that affects every American. Our hope is for this data to raise awareness of the critical need for new rare disease treatments, and demonstrate that the overall amount spent on those treatments is small compared to the total drug spend in the United States,” said Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD®). “People with rare diseases need help, and the Orphan Drug Act is important for spurring innovation.” 

Since 2010, the share of orphan drug spending has increased by five percentage points, likely due to the increasing number of approved orphan products. During this same time, specialty drug spending has also risen by 22 percentage points and now accounts for 47% of all medical invoice spending. However, specialty drugs and orphan drugs are not the same, and IQVIA found 77% of specialty drug spending is for the treatment of common conditions and not rare diseases. 

Approximately 7,000 known rare diseases affect more than 25 million Americans. Rare diseases tend to be chronic, serious and life-threatening. Approximately 80% of rare diseases are genetic in origin. More than 90% of rare diseases have no treatment. 

The report, “Orphan Drugs in the United States: Rare Disease Innovation and Cost Trends Through 2019,” is available at rarediseases.org/rareinsights. NORD commissions the study every two years to examine the state of drug development for rare diseases as part of its mission to support people with rare diseases. 

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The webinar provided several key takeaways and included discussion of the expedited clinical trials that resulted in FDA’s issuing EUAs for the Pfizer-BioNTech and Moderna vaccines, the vaccines’ high rates of effectiveness in combating COVID-19, as well as the imminent arrival of more vaccines, including a one dose option, that could drastically increase the ability to vaccinate the population quickly. Rare disease patients and caregivers were encouraged to get vaccinated as soon as possible, as many rare conditions put individuals at increased risk for severe outcomes from COVID-19.    

The program featured Dr. Stephen M. Hahn, former Commissioner of Food and Drugs, FDA; Dr. Peter Marks, Director, Center for Biologics Evaluation and Research, FDA; and Dr. Amanda Cohn, Chief Medical Officer, Office of Vaccine Policy, Preparedness and Global Health, Office of the Director, NCIRD, CDC. Following an introduction from NORD President and CEO Peter L. Saltonstall, Dr. Hahn spoke of FDA’s emergency use authorizations that have helped to bring vaccines to the public. 

 “FDA has always been and will always be for the application of rigorous science and good data,” said Dr. Hahn. “We are committed to being as transparent as possible about the scientific basis for emergency use authorizations.”  

Dr. Marks elaborated on the vaccines that have been granted EUAs and their soundness, citing 94%-95% effectiveness found through large scale clinical trials. 

“Both vaccines met the FDA’s rigorous scientific standards for manufacturing quality, safety and effectiveness that were needed to support emergency use authorization,” said Dr. Marks.  

Dr. Cohn spoke of the CDC’s efforts on the vaccination initiative currently underway and underscored the importance of people who are at risk, including rare disease patients, getting vaccinated. 

 “We are trying to ensure the people who are most at risk from severe outcomes from COVID-19 get vaccinated early,” said Dr. Cohn, who went on to note CDC’s list of underlying medical conditions is not exhaustive and only includes conditions with sufficient evidence to draw conclusions. “The list may not include every condition that might increase someone’s risk for developing severe illness from COVID-19, like rare conditions, but we recommend individuals with any underlying medical condition consult with their healthcare providers about personal risk factors and circumstances to determine whether extra precautions are warranted.” 

The panel addressed questions from the rare community, touching on issues such as the effect of the vaccines on gene therapies and the emergence of new strains of COVID-19. 

“As the leading voice of the rare disease community, it is inherent in NORD’s mission to bring experts and stakeholders together for discussions on topics vital to patients and caregivers. We’re proud to have worked with our partner hosts to present information on the new vaccines directly from FDA and CDC,” said NORD’s Peter L. Saltonstall. “We are grateful to Dr. Hahn, Dr. Marks and Dr. Cohn for participating and for the knowledge they were able to impart on this critical, timely issue.” 

The webinar is now available for on-demand access through longtime NORD partner PlatformQ Health’s Conduit platform: https://bit.ly/Vaccines-Webinar. 

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