Over the past month we've been running a fundraising campaign to pay for a research project that is a critical step towards treating LGMD2L.
We successfully reached our fundraising target of $25,000, securing the project. In fact, we raised a total of $18,733 in donations large and small (all of which matter) including a phenomenal gift of $10,000. Because the first $12,500 were matched by a commitment from a generous patient family, our final total is $31,233. The additional funds will go towards the next phases of our research plan: more details below.
Our team of scientists at Virginia Commonwealth University has now begun developing the animal model that will enable the testing of existing and new treatments, and eventually the approval of these treatments for human use. We'll send progress updates as they happen.
What's next? We're currently exploring a number of promising areas:
Alternative models: as a backup plan in case the current animal model does not work as well as hoped, we're considering developing alternative models derived from human patient cells that could enable some of the same testing
High throughput screening: we are speaking with labs that can test a large number of existing medications and compounds to see if any have the potential to improve disease symptoms
Autologous stem cell therapy: we will be speaking with a lab currently developing methods to extract muscle stem cells from patients, correct the mutation, and reintroduce those cells to the body to build healthy muscle
Gene therapy: once we have a good model for testing, the technology to create a gene replacement therapy is well understood and we have built a relationship with a lab that can develop it for us
The science needed to treat our disease is progressing fast. Treatments could be around the corner, but it's up to us as a community to make sure these scientists include our disease among those they are working on. As always, we rely on your generosity to make that happen: anything you can give makes a huge difference, and even sharing our page with people you know can help get us across the finish line.
We did it! Our fundraiser met its goal and a new mouse model will be created
September 20, 2025