Sometimes, rare diseases are so rare that they are just as unique as the individual who has it. One child was suffering from a fatal neurodegenerative disease, and the family knew that they needed a personalized treatment to match the personal disease. This is, of course, not an easy task. However, researchers have reported that they have developed a novel drug specifically made for the girl.
The New Drug
The researchers were able to create this splice-modulating antisense oligonucleotide drug because they had found the specific mutation of the child, creating a molecular diagnosis. They explain that this finding has shown one avenue that may enable personalized treatment options for those with such a rare disease. Key to creating the treatment was the ability to identify the specific mutation at the roots of the disease. After this, the personalized drug was create and administered within the year.
The drug shares properties with already established FDA approved treatments. This new drug milasen shares has the same backbone and sugar chemistry as the FDA approved drug nusinersen which is also a antisense oligonucleotide drug, this one for spinal muscular atrophy. So far, the drug continues to be clear of safety concerns or harmful side effects, and it came at a critical moment for the girl who’s fatal disease meant she was running out of time. They say the rapid customization was possible in part due to the specific illness they went to treat and the fact that antisense oligonucleotide drug are specifically malleable to tinkering and modification. Additionally, the similar SMA drug has already been proven to be safe and reliable, and this type of drug is one which is easily manufactured.
While the treatment they’ve created is only meant for this young girl, this success story shows that antisense oligonucleotide drug may be a platform to begin individualizing drugs more widely. Before this happens, the practical questions of how individualized drugs can be FDA approved and evaluated first must be answered. For patients like this little girl, all that matters is this could save her life.
