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NORD Joins with the Krabbe Disease Community to Publish “Voice of the Patient” Report

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Washington, DC, March 16, 2021—The National Organization for Rare Disorders (NORD)®, together with KrabbeConnect, The Legacy of Angels Foundation, Partners for Krabbe Research, Hunter’s Hope and with additional support from Gain Therapeutics, Magneta Therapeutics, PassageBio and Neurogene, has published the “Voice of the Patient” report sharing the stories of patients and families impacted by Krabbe disease, also known as globoid cell leukodystrophy.

This devastating and often fatal rare neurological condition damages a person’s central and peripheral nervous systems, resulting in a host of complications including, feeding difficulties, blindness, deafness, seizures, severe loss of muscle tone and respiratory failure. While there is no known cure, the current treatment available, hematopoietic stem cell transplantation (HSCT), must be administered early. As such, HSCT is only available to those identified by newborn screening or those who are aware of a family history of the disease.

The differences made through the availability of early intervention were made clear by testimony from caregivers like Tammy Wilson, the mother to two children affected by Krabbe disease. “I had a son that was fully affected with Krabbe and saw all of the symptoms that Krabbe causes.” Wilson continued by describing the experience of her younger son who underwent HSCT, “We saw the affected side that was just absolutely excruciating to watch your child die for six years, and then see one after rehabilitation thriving.”

The release of this report follows the externally-led Patient-Focused Drug Development (EL-PFDD) meeting for Krabbe disease that was held virtually on October 29, 2020. The EL-PFDD provided an opportunity for patients and caregivers to share details about the impact of this disease on their daily lives and share their experiences with currently available treatments.

This direct input of their personal perspectives, needs, experiences and priorities is captured and meaningfully incorporated into drug development and evaluation by the US Food and Drug Administration (FDA), researchers, medical product developers and health care providers. As new drug applications are filed by drug developers, the comprehensive “Voice of the Patient” report generated after an EL-PFDD meeting is a critical resource for the FDA, in addition to mandatory safety and efficacy data, and is considered when new medications are evaluated.

“At NORD, we know that patient-powered initiatives can change the world,” said NORD President and CEO Peter L. Saltonstall. “Even though the global COVID-19 pandemic means that we were unable to connect in person, we are grateful that the patient voice for Krabbe disease has been heard through this virtual meeting and is now made available through the Voice of the Patient report.”

The “Voice of the Patient” report is available for download now, and a recording of the entire EL-PFDD meeting on Krabbe disease can be viewed here.