A genetic disease requires a genetic solution
We've partnered with Dr. Mark Schultz and the Shultz Laboratory at the University of Iowa Stead Family Children's Hospital to research and develop a new gene therapy using the latest mRNA technology.
Children with Niemann Pick Type-C are missing the NPC1 proteins which are responsible for breaking down and clearing out of cholesterol from the cells of the body. If the cholesterol builds up enough, the cell will inevitably die. When this happens in the brain and nervous system it causes neurodegeneration.
The new gene therapy that we are researching & developing leverages new advancements in mRNA technology and medicines to help the body produce the missing NPC1 proteins so the cells can break down and clear out the cholesterol.
If this gene therapy is successful children with Niemann Pick Type-C would be functionally cured of the disease by receiving regular doses of the treatment.
Research Progress & Updates
A heartfelt thank you from our little family! Your support means the world, not just to us, but to everyone whose lives could be changed by this research.
We wanted to thank everyone who has shared, donated and sent the kind messages for Liam. Our hearts are so full with gratitude. We currently have raised $26,220 in the last 5 months which is a huge accomplishment to us. We would like to reach our goal of $30k before the month of April so we can start the first year of testing and research.
We would like to share with you a bit more detail of what we will be doing during the first year and how your donations are supporting Liam and NPC kiddos towards a cure. As we have mentioned previously, we are working with a scientist that is working on getting a treatment into clinical trials for NPC. One option we have started exploring is a new type of therapy called lipid based mRNA therapy. The idea is to package mRNA into tiny particles called lipid nanoparticles, or LNPs, which can be injected into the body. Once inside the body's cells, the mRNA can tell the cells to make the missing protein, which could potentially help alleviate the symptoms of the disease. This method is cheaper and faster than other gene therapy options.
A recent study, ‘mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblast’ (https://pubmed.ncbi.nlm.nih.gov/36125338/) had great results showing mRNA treatments can have a tremendous impact. The goal for the research by Dr. Mark Shultz at University of Iowa (https://medicine.uiowa.edu/pediatrics/profile/mark-schultz-1) is to see if healthy NPC1 mRNA can be delivered using lipid nano particles to help correct the problem of cholesterol building up in cells. We are ecstatic that mRNA treatments for NPC research is underway. We absolutely could not have started this so soon without your generosity and support! Please continue to share and help Liam.