How do we get to treatments? Why we crowdfund?
First, our Community has to be Research and Clinical Trial Ready. Patient Organization must have the following:
Access to Patients is an absolute must. New patient? Join SMC1A Contact Registry.
Patients cell lines are essential to study disease biology and test rescue strategies. Most common cell lines are: iPSCs (stem cells), Fibroblasts (skin cells), Lymphablastoids (blood cells)
Natural history(s) is understanding of how this disease affects patients over the period of time and responds to treatment.
Animal models are essential for testing disease rescue and safety prior to clinical trials (testing in humans).
Basic science is in depth understanding of the disease biology and how it affects the body.
Once our community has the above, we can start research into treatments:
Small Molecules and Drugs Repurposing
Small molecules can enter cells easily. Drugs repurposing is using existing drugs in a new way for benefit. We can screen FDA approved small molecules and compounds on SMC1A patients’ iPSC lines for potential benefit.
Cost: $100,000 (1-2 cell lines.)
RNA Therapies: ASOs (antisense oligonucleotides), mRNAs, siRNAs. Read more on ASOs
RNA therapies can manipulate gene expression or produce missing proteins. ASO is one such treatment that targets the disease at the RNA level and alters mRNA expression. ASOs tend to work for mutations with cryptic splicing. Cost: $500,000 – proof of concept, iPSCs and animal testing.
GENE therapies, target the non functional gene.
Gene therapy is a type of a treatment that involves correcting person’s DNA. Gene therapies can be gene editing, gene silencing, gene correction, gene activation, gene replacement or more.
Cost: $800,000 phase 1 – proof of concept, iPSCs and animal studies. $700,000 phase 2 – FDA safety trial, $1,000,000 – clinical trail design and testing.
* The above noted costs are only estimates and do not represent the final cost or any other related costs of these projects. If research is started into any of these noted areas, we do not guarantee results or effective treatments for patients. Research into these treatments is investigational.