Realization Of A Treatment Through Grit, Commitment, Access, Resources, And Tremendous Collaborations

In the U.S., a rare disease is classified as one that impacts fewer than 200,000 individuals. In contrast, the European Union defines a rare disease as one that affects no more than 1 in 2,000 people. Ultra-rare diseases are even more uncommon as they only affect 100 to 200 people globally. These conditions often advance quickly in children, leaving minimal time to identify and pursue treatment options.

Bringing a new therapy to market is a complex and expensive process, typically requiring many years and significant financial investment. For families who receive a sudden and devastating diagnosis, the timeline for drug development can feel hopelessly out of reach. So, how do they move forward?

This blog series follows the inspiring journey of the Krueger family, who, within just 14 months of their daughter Elly’s diagnosis, succeeded in getting her treated with an experimental gene replacement therapy. Their success was made possible through extraordinary collaboration between healthcare providers, researchers, academic institutions, and manufacturing partners.

In Part One, we meet Dan and Michelle Krueger and their daughter, Elly, who was diagnosed with a neurodegenerative condition known as Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS). First identified in 2018, NEDAMSS currently affects approximately 150 children worldwide. Refusing to accept the diagnosis as final, learn how the Kruegers mobilized an entire network of experts and secured FDA clearance to administer a custom gene therapy.