Mission
What we do
Our mission is to cure
Collagen VI-related dystrophy.
COL6Fund.org
Collagen VI-related dystrophy is a rare and understudied genetic issue that presents itself as a congenital muscular dystrophy. It results from a change in the Collagen VI gene producing bent collagen fibers and the decreased ability of muscle cells to be held together properly and thus not work or develop properly. The underdeveloped matrix surrounding the muscle is presented across all skeletal muscles in the body, although weakness is predominately in the hips and shoulders.
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Eventually, patients with Collagen VI-related dystrophy lose the ability to walk, which brings a myriad of health problems and bone density issues. Additionally, the diaphragm is also a skeletal muscle along with the muscle connecting the lungs to the rib cage, and the majority of Collagen VI-related dystrophy patients require breathing assistance. At this time there are no treatments.
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That being said, with the progression of genetic research, RNA modulating science, and treatments related thereto, we are in an exciting time, where issues that were formerly unsolvable, are already curing patients.
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In general each person has two forms of every gene, and Wesley has one bad form of Collagen VI, which is being mixed in with his healthy version. This creates kinked or malformed fibers surrounding his muscle. We need to remove this bad gene, and RNA editing and silencing technologies are already being used in patients to do just that. We plan to develop a successful RNA targeting molecule to eliminate Wesley's unhealthy Collagen VI and leave the healthy version intact. Collagens are remade and recycled throughout our lives, meaning that potentially all Wesley's damaged fibers could be replaced with healthy ones thereby reversing his disease.
The major clinical hindrance to creating a RNA based therapy for Wesley and other children with Collagen VI disorders is that the genes we need to fix are in a cell called a fibroblast, and there has not been nearly enough research to discover a way to target and deliver therapies to fibroblasts. The amazing personalized therapies and neuromuscular therapeutics mentioned previously were all delivered through the central nervous system, which will not work for Collagen VI-related dystrophies...but a delivery method can be found!
There are really two immediate steps to a likely cure for Wesley:
1
Model his genetic issue so that we can design and
verify that a RNA or DNA based editing tool will correctly remove the dysfunctional gene.
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Approximate cost
$350,000
2
Research, discover and implement a way to deliver therapeutics efficiently to the fibroblasts.
We are extremely devoted to contributing to the understanding of fibroblasts as multiple diseases stem from these cells and we could help many children.
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Approximate cost
$200,000
Lastly, if we are successful in the above we will need to bring the therapy to clinical trial. On average this has cost the majority of rare disease families $2 million dollars.