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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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. 

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February 15, Washington, DC – Today, the National Organization for Rare Disorders (NORD) President and CEO Peter Saltonstall issued the following statement following the confirmation of Robert Califf as Commissioner of the Food and Drug Administration (FDA): 

“NORD and the rare disease community commend the Senate for the confirmation of Robert Califf as Commissioner of the FDA. Commissioner Califf’s previous experience at FDA gives him critical first-hand knowledge of the unique challenges associated with developing safe and effective treatments for rare diseases, as well as the importance of meaningful partnerships between the FDA and rare disease patient organizations such as NORD. 

“NORD is excited to continuing to drive rare disease innovation alongside FDA and ensuring the patient voice is incorporated into regulatory decision making. More than 90% of rare diseases lack an FDA-approved treatment, and NORD is looking forward to working alongside Commissioner Califf and the FDA to further the identification, treatment, and cure of rare disorders.” 

Since its establishment in 1983, NORD has advocated for policy changes to improve the lives of Americans impacted by rare diseases at the federal and state levels. To learn more about NORD’s advocacy and policy positions, 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 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 Applauds Confirmation of Robert Califf as Commissioner of the Food and Drug Administration appeared first on NORD (National Organization for Rare Disorders).

However, I am far from “normal”. I have a rare disease that spontaneously and randomly tears my tendons and cartilage. So rare that few doctors have even heard of it, even fewer have ever seen or treated it and no one else has it. This was, as you can imagine, impossible to believe. 18 years later I still have a hard time wrapping my head around it. It took six years, five doctors, three top ranked rare disease specialists across the United States and 14 orthopedic surgeries before I was correctly diagnosed with what is now called “an orphan of a rare HLA B27 autoimmune disease”.  

With no doctors having any experience with this disease and no FDA approved treatments, it was predicted that the damage to my tendons and joints would be so severe that I would be in a wheelchair in my 50s. After the shock and disbelief wore off, when it was clear this wasn’t some horrible nightmare, I got busy. At first, it was hard getting doctors to believe that I have some rare disease they’ve never heard of, but I found a team of doctors willing to think outside the box. I began a lifelong treatment of a chemotherapy drug, a biologic drug and other disease modifying drugs to try to slow the progression and lessen the severity of this disease. And six years ago, I began stem cell procedures to try to help repair my torn tendons. My medications and treatments are considered experimental – they are not FDA approved and not covered by insurance. I cannot tell you how many times I’ve heard from my doctors, “I’ve never seen this before, I’ve never tried this before, I have no idea if this well even help you.” I shrug my shoulders, smile and say, “Me neither, but I have no other options, and if you are willing to jump on this crazy train with me, I’m willing to do everything and anything I can do to get better!” 

My disease is incurable, and it will continue to damage my tendons, soft tissue and cartilage. I live on chemotherapy drugs that make me sick and inject myself with a biologic drug. I will continue to be medically monitored for the rest of my life and I will continue to live in my doctor’s office and in physical therapy. I am determined to live the best life I can, despite living in a body that tears me apart. 

I’m just a “normal” person that suddenly found myself in a rare world I knew nothing about. A scary, lonely, painful, frustrating unbelievable world, and there isn’t a thing I can do to prevent or change it. I have no control over my disease, but I do have control over how I choose to live with it. I could have easily accepted the grim prognosis, thrown up my arms in defeat and laid on my couch feeling sorry for myself waiting for the wheelchair to come, but that would be worse than the disease itself! 

I hope that my story can help someone else find their strength, their courage, their defiance to stand up and demand of themselves and their medical team better. Never give up, never settle, never surrender to the disease, never allow it to take you out of your life! 

The National Organization for Rare Disorders (NORD) is committed to telling the stories of patients and families with rare or undiagnosed diseases and helping them live their best rare lives. If you would like to share your story, contact NORD here. 

The post Far From “Normal”: Brenda’s Rare Disease Story appeared first on NORD (National Organization for Rare Disorders).

“The Bespoke Gene Therapy Consortium is a strong, collaborative initiative centered around patients and families. NORD is thrilled to be on the forefront of gene therapy development alongside this coalition, and we look forward to contributing to research and data collection that will truly make a difference for the nearly 30 million Americans living with a rare disorder.” said Ed Neilan, M.D., Ph.D., Chief Scientific and Medical Officer, NORD

For nearly four decades, the National Organization for Rare Disorders (NORD) has made it a mission to explore and elevate care, cures and treatment for rare diseases – regardless of how many people a certain disease might affect. The BGTC is a resourceful and likeminded coalition of key stakeholders and it will help enhance the development of rare disease treatment and research for the next generation of patients.

Private partners of the BGTC include:

• Biogen Inc., Cambridge, Massachusetts;
• Janssen Research & Development, LLC, Raritan, New Jersey;
• Novartis Institutes for BioMedical Research, Cambridge, Massachusetts;
• Pfizer Inc., New York, New York;
• REGENXBIO Inc., Rockville, Maryland.;
• Spark Therapeutics, Philadelphia, Pennsylvania;
• Takeda Pharmaceutical Company Limited, Deerfield, Illinois;
• Taysha Gene Therapies, Dallas, Texas;
• Thermo Fisher Scientific Inc., Waltham, Massachusetts; and
• Ultragenyx Pharmaceutical, Novato, California.

The non-profit partners involved include:

• The Alliance for Regenerative Medicine (ARM), Washington, D.C.;
• The American Society of Gene and Cell Therapy, Milwaukee, Wisconsin;
• CureDuchenne, Newport Beach, California;
• National Organization for Rare Disorders (NORD), Quincy, Massachusetts; and
• The National Institute for Innovation in Manufacturing Biopharmaceuticals (NIIMBL), Newark, Delaware.

For more information on the BGTC program, visit the NIH website.

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