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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The topic of the newest video is Post-Transplant Lymphoproliferative Disease (PTLD). PTLD is a rare complication of solid organ and hematopoietic stem cell transplant. People who receive these transplants are treated with drugs that suppress the activity of the immune system, leaving them at heightened risk for developing infections and, in some people, post-transplant lymphoproliferative disorder. PTLD can result in a mild, non-cancerous overgrowth of an organ or a cancerous, life-threatening form of lymphoma.  

In most instances, PTLD is associated with the Epstein-Barr virus, a common virus that does not usually cause problems in people with normal-functioning immune systems. Following a transplant, when the immune system is suppressed, a dormant Epstein-Barr virus may be reactivated or a new infection with the virus may occur.

While specific signs and symptoms can vary greatly from person to person, PTLD can often have a rapid and severe development, and disease may be widespread throughout the body. Early diagnosis and prompt treatment of PTLD is extremely important.

The NORD Rare Disease Video Library resides on the NORD website, www.rarediseases.org, which receives traffic from over 1.3 million visitors per month.

The PTLD video was made possible through an educational grant from Atara Biotherapeutics. NORD is grateful to Atara for their support.

The post New Video on PTLD Added to NORD Rare Disease Video Library appeared first on NORD (National Organization for Rare Disorders).

As the primary advocacy organization in the U.S. for people who have rare diseases, NORD provides educational resources for patients, caregivers and medical professionals. Disease-specific reports are developed by the NORD editorial team in collaboration with independent medical experts.

“People who have rare diseases often have difficulty finding accurate and easy-to-understand information about their condition,” said Marsha Lanes, MS, CGC, a genetic counselor and medical editor in NORD’s Educational Initiatives Department. “The purpose of NORD’s free Rare Disease Database reports is to provide information and resources to help those who may be dealing with little-known and misunderstood medical conditions.”

The PTLD report was developed with assistance from Thomas M. Habermann, MD, of the Division of Hematology, Department of Medicine, Mayo Clinic. All NORD reports are either written or reviewed by independent medical experts. This new report was made possible by a donation from Atara Biotherapeutics. NORD and the independent medical experts who support its work are solely responsible for the content of the database.

PTLD is a rare complication of solid organ and hematopoietic stem cell transplant. People who receive these transplants are treated with drugs that suppress the activity of the immune system, leaving them at heightened risk for developing infections and, in some people, post-transplant lymphoproliferative disorder. PTLD can result in a mild, non-cancerous overgrowth of an organ or a cancerous, life-threatening form of lymphoma.  

In most instances, PTLD is associated with the Epstein-Barr virus, a common virus that does not usually cause problems in people with normal-functioning immune systems. Following a transplant, when the immune system is suppressed, a dormant Epstein-Barr virus may be reactivated or a new infection with the virus may occur.

While specific signs and symptoms can vary greatly from person to person, PTLD can often have a rapid and severe development, and disease may be widespread throughout the body. Early diagnosis and prompt treatment of PTLD is extremely important.

The Rare Disease Database is one of many educational resources NORD provides for patients, caregivers, medical professionals, students and the public. The database was first established shortly after NORD was founded in 1983 and is used by millions of people around the world. It provides expert-reviewed information on rare diseases in patient-friendly language and currently covers more than 1,200 rare diseases. New reports are added on an ongoing basis.

The post NORD Publishes Report on Post-Transplant Lymphoproliferative Disease appeared first on NORD (National Organization for Rare Disorders).