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  • Writer's pictureTeam Jack

Our Meeting with the FDA

December 15, 2023 was a milestone day for NKH awareness and our work towards a cure. 


Along with a handful of other families, Team Jack presented to the FDA about NKH in a patient-led advocacy session. The FDA holds 10 such meetings a year with representatives of rare disease communities in order to hear directly from those most affected. 


This meeting was a crucial step towards our ultimate goal of curing NKH. 


The FDA’s role is to approve clinical trials for drugs, devices, etc. that aim to reduce disease symptoms. But with so many rare diseases, it’s quite easy for a genetic metabolic disease like NKH to get caught in the weeds. 


Over the course of 90 minutes, parents spoke passionately about the devastating effects of NKH. For the 50+ FDA attendees, it was an eye opening experience as they learned about the harsh reality of living with NKH. 


As part of the presentation, we were also able to announce that Notre Dame has filed for approval of a gene therapy patent for the GLDC mutation of NKH! The researchers and doctors are confident in their work and results and this is another positive step forward for their scientific advancement. 


  • Jack’s genetic mutation is the AMT variant. Will the GLDC therapy help him? Yes, it will. 

  • Will we still be funding and researching the AMT equivalent? Yes, we will!!

  • NKH’s two primary mutations are GLDC (80% of known cases) and AMT (20%). Team Jack was responsible for funding the world’s first AMT specific genetic research. We’re hopeful to share promising news about this research soon!!


The FDA was thrilled to hear about the work being done with Notre Dame!


So how do these two monumental announcements work together? 


Each will act as a separate path- we’ll continue to work closely with the FDA to field questions about potential clinical trials, explain and expand our patient registry and advocate for multiple locations globally for trials.  We’ll also continue to work with Notre Dame to support efforts related to research. 


When the day comes, in the near future, that clinical trials are no longer a dream but a reality, the separate paths will converge. Our relationship with the FDA will allow real time conversations to occur about trials and approvals and next steps. The rareness of NKH will be bypassed by the months of work that led to a successful presentation on December 15, 2023. 


There’s still so much to accomplish in 2024. 


But when we write the book on how we cured NKH, December 15, 2023 will be an important chapter. 




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