Rare diseases are one of the most scientifically complex health challenges of our time. There are currently 7,000 known rare diseases, half of which affect children.
In the United States, a rare disease is defined as one that affects fewer than 200,000 Americans, While 1 in 10 people have a rare disease, only 5% have cures.
In the case of Jansen's Metaphyseal Chondrodysplasia, research has generated encouraging data in mice indicating that one of the peptides developed can be used to reverse in mice the phenotype induced by the PTH receptor with the H223R mutation. By confirmed findings in several independent experiments, it has been proven that research data are correct and reproducible.
We now have the go ahead to move forward to test the efficacy of the peptide in humans. Of course we need approvals by the FDA which would allow researchers to perform the first tests with this peptide in humans.
Researchers are envisioning the first volunteer adult Jansen's patient to receive the peptide will be closely monitored for serum and urine parameters after each injection. Once a change in blood and/or urine parameters is seen in the adult Jansen patient, we can then apply for an amendment to the protocol so that the first children with Jansen's can be given the peptide.
Our goal is to speed up the long process to manufacture enough peptide for use in humans, to obtain all the necessary approvals, and to start the first testing in an adult patient with Jansen’s disease by the end of 2017.
All of this needs funding to help offset costs. If you are able to contribute to our cause, please hit the DONATE button. If not, please share our story far and wide.
A cure for Jansen's could potentially unlock cures for osteoporosis, osteoarthritis and hypercalcemia-related diseases.
We believe a cure is possible.