National Organization for Rare Disorders (NORD®) Founder and past President Abbey S. Meyers, PhD, former U.S. Rep. Jaime Herrera Beutler of Washington State, New York Yankees centerfielder Bernie Williams, and pioneer clinical geneticist, Dr. Ada Hamosh, headline a group of rare disease champions who will be honored for their outstanding contributions to the rare disease community at NORD’s 2023 Rare Impact Awards (RIA).
This year’s Rare Impact Awards — set for Thursday, May 4, 2023, at 6 p.m. ET at the Smithsonian National Portrait Gallery in Washington, DC — will punctuate NORD’s 40th Anniversary Celebration by recognizing six unique individuals, a forward-thinking and DEI-focused patient advocacy group and six industry innovators for their FDA-approved treatments. Each of the honorees have made significant and unique contributions that have helped advance rare disease care, advocacy and research in recent years of NORD’s 40-year history. Tickets and registration for the Rare Impact Awards and 40th Anniversary Celebration are available at rareimpact.org.
Meyers founded NORD in 1983 after working with other rare disease patient advocates to prompt Congress to pass the landmark Orphan Drug Act – the world’s first legislation incentivizing drug development for rare diseases. Her actions sparked a movement that NORD continues to steward today by serving as an unwavering partner and a steadfast presence in helping rare disease patients feel seen, heard, supported and connected.
Beutler, whose daughter was born with a rare condition known as bilateral renal agenesis, has used her platform both while in Congress and now as a private citizen — to influence and help direct funding to support research and treatments for rare diseases.
Williams is known in the rare disease community as a voice, advocate, and champion for patients and families who are impacted by idiopathic pulmonary fibrosis — a rare condition that took the life of his father in 2001.
Hamosh, MD, MPH, FACMG, serves as Professor of Pediatric Genetics and Clinical Director of Department of Genetics at Johns Hopkins School of Medicine and Scientific Director of Online Mendelian Inheritance of Man (OMIM). Her transformative work includes the co-development of PhenoDB, a web-based tool for the collection, storage and analysis of standardized phenotype and genotype data for use in the Centers for Mendelian Genomic project, and GeneMatcher, a website that connects clinicians and researchers who share an interest in the same gene.
Other distinguished honorees include:
Shannon Killebrew, of Statesboro, Ga., rare disease patient, advocate and founder of Shannon’s Hope for House Calls and Home Medical Care, a national advocacy group for homebound patients;
Phillip Maderia, of West Newbury, Mass., founder of NORD’s signature Running for Rare program, which has raised over $2M since inception by partnering with more than 300 runners and rare community patients and caregivers to participate in designated running events that raise money and awareness for NORD, including the TCS New York City Marathon and iconic Boston Marathon.
Alliance to Cure Cavernous Malformation, a Charlottesville, Va., nonprofit that raises awareness, educates the public, drives research, and provides support for those affected by cavernous malformation — with the Abbey S. Meyers Leadership Award. The Alliance to Cure Cavernous Malformation was founded by Connie Lee, a mother who learned in 2000 that her infant daughter had the rare condition. Through its work — and Lee’s tireless advocacy, it has developed a network of Centers of Excellence to enable clinical trials for the condition.
“Forty years ago, a courageous group of rare disease advocates came together to create NORD and ignite a movement that is working to improve lives for the 25 million Americans who live with rare diseases” said Peter L. Saltonstall, President and CEO, NORD. “This year’s winners of the Rare Impact Awards reflect the pioneering spirit of our founders — each of them using their passion and talent to achieve the vision of a world where every person with a rare disease can lead their best lives.”
Industry Innovators
In addition to the individual honorees, the 2023 Rare Impact Awards will honor industry innovators that have created treatments to improve the lives of rare disease patients. This year’s Industry Innovator Award winners include:
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In September 2022, FDA granted Accelerated Approval to SKYSONA®, a gene therapy, to slow the progression of neurologic dysfunction in boys 4-17 years of age with early, active cerebral adrenoleukodystrophy (CALD), a rare, progressive, neurodegenerative disease.
CSL Behring for Hemgenix®
In November 2022, FDA approved Hemgenix®, developed by CSL Behring, the first and only gene therapy for eligible adults living with hemophilia B, a rare, genetic bleeding disorder.
Mallinckrodt Pharmaceuticals for Terlivaz®
FDA approved Mallinckrodt Pharmaceuticals’ Terlivaz® in September 2022, as the first product to improve kidney function in adults with hepatorenal syndrome (HRS) who experience rapid reduction in kidney function. HRS is a form of impaired kidney function that occurs in individuals with advanced liver disease. In addition to orphan drug designation, Terlivaz® was awarded priority review and fast track status.
Marinus Pharmaceuticals for Ztalmy®
In March 2022, FDA approved Ztalmy®, developed by Marinus Pharmaceuticals, as a treatment for seizures associated with CDKL5 deficiency disorder (CDD), a rare developmental epileptic encephalopathy caused by pathogenic variants in the CDKL5 gene. This is the first treatment for CDD and the first specifically for CDD-related seizures.
Novartis for Vijoice®
In April 2022, FDA granted Accelerated Approval to Vijoice®, developed by Novartis, for the treatment of adults and pediatric patients two years of age and older with severe manifestations of PIK3CA-Related Overgrowth Spectrum (PROS) who require systemic therapy. PROS is a group of genetic disorders leading to overgrowth of various body parts and blood vessel abnormalities due to mutations in the PIK3CA gene involved in making a protein that helps regulate cell growth, division and survival. Vijoice® is the first FDA-approved treatment for PROS, which affects an estimated 14 people per million.
Sanofi for Xenpozyme™
Xenpozyme™, developed by Sanofi, was approved in August 2022 for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD) to treat symptoms that are not related to the central nervous system. ASMD is a rare progressive genetic disorder that results from a deficiency of an enzyme required to break down a fatty substance called sphingomyelin that accumulates in various tissues of the body. Patients with ASMD have enlarged abdomens that can cause pain, vomiting, feeding difficulties, as well as an abnormal liver and blood tests.
Tickets and registration for the Rare Impact Awards and 40th Anniversary Celebration are available at rareimpact.org. Early booking is encouraged, as space is limited for this highly anticipated event. Additionally, tickets to the May 6th NORD Living Rare, Living Stronger patient and family forum are available at livingrare.org. This family-focused educational event is designed to help guide patients, caregivers and loved ones live their best life with a rare disease.
About the National Organization for Rare Disorders (NORD)
With a 40-year history of advancing care, treatments and policy, the National Organization for Rare Disorders (NORD) is the leading and longest-standing patient advocacy group for the more than 25 million Americans living with a rare disease. NORD, a 501(c)(3) nonprofit, is dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 330 patient organization members, is committed to improving the health and well-being of people with rare diseases by driving advances in care, research and policy. For more information, please visit https://rarediseases.org/.