NORD t-shirts for sale
T-shirts for sale at NORD’s 2019 Living Rare, Living Stronger Forum in Houston, Texas. This year’s event was held virtually. Credit: Larry Luxner

Under COVID-19’s lingering shadow, the National Organization of Rare Disorders (NORD) has presented its 2021 Rare Impact Awards to 24 pharmaceutical firms, researchers, politicians, and nonprofit groups for their efforts over the past year on behalf of patients with such illnesses.

The virtual ceremony was hosted by John Whyte, MD, MPH, chief medical officer at WebMD, with commentary from Edward Neilan, MD, chief medical and scientific officer at NORD. Marking the grand finale of the annual 3-day Living Rare, Living Stronger NORD Patient & Family Forum, the event featured 3 musical performances by singer Ali Stroker, as well as special appearances from actress Denise Richards and TLC singer Tionne “T-Boz” Watkins.

“Despite the pandemic, we continue to see progress in the fight against rare diseases,” said NORD president and chief executive officer (CEO) Peter Saltonstall, whose organization represents 330 disease-specific patient advocacy groups ranging from the Alagille Syndrome Alliance to the XLH Network.

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Peter Saltonstall, NORD’s president and CEO. Credit: Larry Luxner

“Last year it was hard to anticipate what 2021 might bring,” Saltonstall said in welcoming the winners to the June 28 event. “For many of us, it’s been a hopeful year as the rollout of vaccines offers assurance that the worst of the pandemic is behind us. But for rare disease patients, there’s still many challenges and much to be done, since 95% of all rare diseases still have no FDA-approved therapy, and the journey to an accurate diagnosis continues to take too long.”

Peter Marks, MD, PhD, director of the Center for Biologics Evaluation and Research at the US Food and Drug Administration (FDA), won a Public Health Leadership Award, while the Desmoid Tumor Research Foundation received NORD’s Abbey S. Meyers Leadership Award. 

Also recognized was Chris Austin, MD, who spent 2 decades at the National Institutes of Health (NIH) in Bethesda, Maryland — nearly half of that time as director of NIH’s National Center for Advancing Translational Sciences (NCATS). Austin is now CEO-partner at Flagship Pioneering.

“During my 20 years at the NIH, I had the privilege of founding and directing collaborative scientific programs that accelerated the understanding, diagnosis, and treatment of rare diseases,” he said. “We’ve begun to change the narrative on rare diseases to what we all know: they’re a major public health problem deserving of much more attention and, yes, funding.”

Dr. Austin added: “Everything I have done has been in collaboration with patients, and we’ve put patients very publicly at the center of all we do. As I move on now from NIH to a new role in the private sector, my commitment and focus on rare diseases will not change.”

Ten pharmaceutical companies were given 2021 Industry Innovation Awards:

  • Alnylam Pharmaceuticals for Oxlumo™ (lumasiran) to treat primary hyperoxaluria type 1 (PH1)
  • AstraZeneca for Koselugo™ (selumetinib) to treat neurofibromatosis type 1 (NF1)
  • Blueprint Medicines for Ayvakit™ (avapritinib) to treat advanced systemic mastocytosis
  • Eiger Biopharmaceuticals for Zokinvy® (lonafarnib) to treat progeria
  • Horizon Therapeutics for Tepezza® (teprotumumab-trbw) to treat thyroid eye disease
  • Incyte for Pemazyre® (pemigatinib) to treat bile duct cancer (cholangiocarcinoma)
  • Loxo Oncology and Eli Lilly for Retevmo® (selpercatinib) to treat medullary thyroid cancer
  • Regeneron for Inmazeb™ (atoltivimab, maftivimab, and odesivimab-ebgn) to treat Ebola virus
  • Ridgeback Biotherapeutics for Ebanga™ (ansuvimab-zykl) to treat Ebola virus
Jade Day is Oklahoma volunteer state ambassador for NORD’s Rare Action Network. She was among the winners of the organization’s 2021 Rare Impact Awards. Credit: Larry Luxner

Among patient advocates receiving Rare Impact Awards was Jade Day, vice president of the nonprofit group A Twist of Fate-Arterial Tortuosity Syndrome. A resident of Muskogee, Oklahoma, Day said her biggest achievement is launching the first rare disease work group within the Cherokee Nation.

“I started this journey as a mom to an undiagnosed son. He was eventually diagnosed with FG1 syndrome, and I’m an X-linked carrier,” she said. “Like many in the rare community, we face barriers on getting genetic testing. Gavin was born in a rural Indian hospital. I felt alone with no one to guide me, so I became an advocate so that others did not have to face that journey alone.”

This year’s Rare Impact Awards also went to 4 health care providers as well as two lawmakers: State Rep. Hannah Kane, who represents the 11th district of Massachusetts, and US Sen. Patty Murray of Washington state.

Kane, a Republican, was the lead legislative sponsor of her state’s Rare Disease Advisory Council bill, which was signed into law on Jan. 1, 2021.

“As a parent of a daughter with 2 chronic diseases, I recognize how challenging it can be to navigate getting a diagnosis and accessing care for a non-rare disease,” she said. “And I have learned from advocates, caregivers, and patients themselves just how much more difficult it is for a rare disease — especially during the pandemic.” 

Murray, a Democrat, was praised for helping Americans access quality health care, supporting federal telehealth programs, and promoting the use of technology to connect people in rural or underserved areas.

“Just because fewer people are fighting a disease doesn’t mean their fight is any less devastating for their families, or any less important than the common ones. And it doesn’t mean we don’t need to help in any way we can,” she said. “That is why I’ve worked in a bipartisan way in recent years to pass the 21st Century Cures Act and increase investments in biomedical research by billions of dollars to support groundbreaking science on diseases across the board.”

Murray added: “Of course, even the best breakthrough only makes a difference if people can actually get it. That means we need to bring down skyrocketing drug costs and make sure every person has quality affordable health care coverage.”