Spinraza alters the splicing of SMN2
pre-mRNA in order to increase production of full-length SMN protein.
In November 2011, Roche gained an exclusive worldwide license to the PTC/SMA Foundation SMN2
alternative splicing program.
SMN1 and SMN2
quantitative genotype frequencies from normal populations were obtained as the weighted mean from 3 publications (21-23), including 2370 individuals.
A second closely related back-up gene called SMN2
exists that normally produces a truncated and low-functioning form of SMN protein.
Varios estudios han mostrado que el numero de copias del gen SMN2
modifica la gravedad de la enfermedad.
The SMN protein is made by two genes, the SMN1 and SMN2
copy numbers vary widely between individuals, ranging from complete absence to 5 or more copies per genome (3).
The major goal of this new program is to explore the therapeutic potential of two new sequences, which are located in different regions of the SMN2
gene doesn't seem to serve any function that researchers can identify.
The latest research indicates that if a compound can be found to "trick" the SMN2
gene, the other protein-producing gene, into producing enough protein to compensate for the absence of SMN 1, the effects of SMA could be decreased or even reversed.
The trial will enroll a minimum of 15 patients with SMA Type 1 who are less than six months of age at the time of gene therapy, and who have one or two copies of the SMN2
backup gene as determined by genetic testing and bi-allelic SMN1 gene deletion or point mutations.
Currently there are six drug strategies being advanced for SMA: a) Small molecule SMN enhancers, b) Neuroprotectants, c) ASOs to correct SMN2
splicing, d) Stem cell therapy, e) Gene therapy, and f) Regulators of muscle function.