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NORD Drives Rare Disease Progress Through Patient-Powered Data With IAMRARE™ Registry Members

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Washington, DC, November 10, 2020This year, in conjunction with its rare disease community partners, the National Organization for Rare Disorders (NORD®continued to drive research and innovation through the IAMRARE™ registry programHaving launched its first study in 2014, today IAMRARE supports longitudinal data collection efforts for over 40 rare conditions, with more than 11,000 participants. 

NORD’s ongoing research work and partnerships with the rare community are being acknowledged at the highest levels. In his keynote at last month’s Rare Diseases and Orphan Products Breakthrough Summit, US Food and Drug Administration Commissioner Stephen Hahn, MD noted NORD’s “important role in shining a light on, encouraging and forging opportunities to advance new and groundbreaking scientific research in areas where there might otherwise not be attention and action,” and went on to praise the organization for its “ability to bring the strengths of the rare disease community together.” 

Despite the unexpected challenges that 2020 has brought, rare disease patients and the organizations that serve them have remained committed to advancing research, particularly through virtual study participation. NORD applauds the entire IAMRARE community for its hard work and dedication and welcomes its newest partners: 

  • Sara’s Cure, supporting individuals affected by clear cell sarcoma;  
  • The Snow Foundation, supporting individuals living with Wolfram syndrome;  
  • A Cure in Sight, supporting individuals with ocular melanoma;  
  • The Association for Creatine Deficiencies, supporting individuals affected by creatine transporter deficiency (CTD), guanidinoacetate methyltransferase deficiency (GAMT) and larginine: glycine amidinotransferase (ADAT);  
  • KrabbeConnect, supporting individuals affected by Krabbe disease; and  
  • The Cute Syndrome Foundation, Inc., supporting individuals affected by SCN8A epilepsy. 

In addition to these new partnerships, NORD also launched natural history studies for undiagnosed patients and for the metachromatic leukodystrophyarachnoiditismoyamoya, and necrotizing enterocolitis patient populations. New studies are scheduled to launch soon in collaboration with the following organizations: the Appendix Cancer Pseudomyxoma Peritonei Research FoundationHelping Hands for GAND, Inc., the COPA Syndrome FoundationTatton Brown Rahman Syndrome CommunityAplastic Anemia and MDS International Foundation, The Moebius Syndrome Foundation and the Gorlin Syndrome Alliance. 

By building cooperation with leading scientific experts and the rare community, NORD’s IAMRARE registry program is addressing knowledge gaps and helping accelerate the development of new treatments with the potential of saving lives.  

“Each person, each experience is so important to unlocking the next advancement for their rare condition. Patient registries and natural history studies are valuable tools for collecting this critical information,” said Vanessa Boulanger, NORD’s Director of Research Programs. “At NORD, we are proud to work alongside dedicated patients and organizations, supporting and empowering them to engage in research as partners.” 

For more information about IAMRARE and how to join us in our fight to better understand rare conditions, email [email protected].org. 




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