Novartis’s announcement about FDA filing acceptance could translate to CMT
On Monday, Novartis, the parent company of AveXis, announced that a license application for their gene therapy approach to treat Spinal Muscle Atrophy (SMA) was accepted by the FDA. This is a major scientific and regulatory breakthrough in genetically treating SMA and other genetic neurological diseases, like CMT.
People with SMA have two faulty copies of a gene which produces protein to make the motor neurons to survive. AveXis is advancing technology using an adeno associated virus 9 (AAV9) vector to deliver a healthy gene to the affected cells, allowing them to make the proper amounts of protein needed for the motor neurons to survive; infants receiving this treatment are reaching important developmental milestones which could be life-saving for them.
SMA is similar to CMT in that it is a genetic nerve disease. The cause of CMT1A, for instance, is a duplication of a gene (PMP22) which causes too much protein delivered to the cells that make the myelin sheath, or insulation, on the peripheral nerves (those outside the spinal column and brain). Too much protein causes the myelin sheath to break down, weakly sending the signal to nerves from the brain, ultimately leading to nerve degeneration.
There is early evidence which shows that using AAV9 to deliver a gene editor could silence the extra copy of the problematic duplicated gene in CMT1A. Work has also been done using AAV9 to deliver gene therapy in CMT1X and CMT4C; both projects are continuing to advance in the research lab.
The SMA work with AveXis paves the path toward AAV9 approval for a myriad of genetic diseases, including CMT. With your help and support CMT research can advance faster, accelerating this promising pathway toward treatments for CMT.
This is encouraging news for my family. I am 63 Father with CMT. I’m waiting on my genetic testing results to see which specific one I have. Our daughter is 31 and was born with SMA type 2. We have met with a neurologist to see if she may start receiving the gene therapy. If anyone wants to contact me that’s fine. These diseases are rare and to have father and daughter with two defines must be very rare.