Isis Pharmaceuticals recently announced it received $2.15 million from Biogen to advance CHERISH, the ongoing pivotal Phase 3 study assessing ISIS-SMNRx in children suffering with spinal muscular atrophy (SMA). Isis has now received over $120 million from Biogen to advance this investigational therapy.
CHERISH a Phase 3 ISIS-SMNRx study; it is a double-blinded, randomized, 15 month study in almost 120 children with SMA (non-ambulatory) aged between 2 and 12. The study intends to assess the safety and efficacy of 12 mg doses of ISIS-SMNRx through the Hammersmith Functional Motor Scale-Expanded (HFMSE) which evaluates modifications in muscle function in SMA patients.
SMA is a serious genetic condition that strikes between 30,000 to 35,000 people in the US, Japan and Europe. There are currently no approved treatments to address SMA, which occurs as a result of either the loss or defects in the survival motor neuron 1 (SMN1) gene, causing reduced production of the survival motor neuron (SMN) protein. SMN is a key protein for the survival of nerve cells existent in the spinal cord, ensuring neuromuscular growth and function. One in each 50 people carry the defective SMN1 gene; these carriers do not have symptoms or develop the disease but if both parents are carriers, there is a 25 percent chance of having a child with SMA.
ISIS-SMNRx is thought to change the splicing of SMN2, a gene related to SMN1, restoring the production of a functional SMN protein. Importantly, the US Food and Drug Administration (FDA) granted the fast track designation and the orphan drug status to ISIS-SMNRx to treat those with the disease.
Isis is partnering with Biogen to advance the investigational compound to treat SMA. Isis is responsible for its global advancement and Biogen has the possibility of licensing ISIS-SMNRx. Biogen is also currently developing two Phase 2 studies (NURTURE & EMBRACE) along with another Phase 3 study (ENDEAR) of ISIS-SMNRx to evaluate children with the condition.