Terminally Ill Toddler May Be Saved By New Treatment

Most of us take our lives and those of our children for granted, but for an unfortunate minority, rare genetic diseases don't just threaten to steal lives away, they are serious enough to follow through with it. This is the case for one such genetic disease called spinal muscular atrophy (SMA), but a recently released drug holds promise as its first known treatment.

Unfortunately, not everything is going smoothly. Some children, such as toddler William Storr, have been denied access as not all hospitals in the UK are providing it. His version of the disease is so severe that 95% of children like him do not live to see their second birthday. He can only move his hands and toes, cannot swallow and cannot breathe properly. While clinicians, charities and patient groups are calling on the NHS to make the drug, known as Spinraza, available to all people with SMA, the NHS claims there are a lack of staff and beds (even though SMA is rare). Until NICE, another UK health organisation, approves the drug themselves, Spinraza is only available through an expanded access program run by the pharmaceutical company that produces it. Fortunately, the Sheffield Children's Hospital is opening a discussion with the Storr family and six others whose children need the treatment, as it is likely to be available there soon.

Spinraza.

So what is all the fuss about...does it really work? Spinraza is a biologic drug, designed to increase expression of another gene that produces the "survival motor neuron" protein. Without it, motor neurons die off and victims lose muscle function. Multiple clinical trials have shown that Spinraza is able to bring about neurological improvements in the majority of participants receiving it. Most children were also able to meet the developmental milestones that almost all of us take for granted. Survival rates, of course, improved too.

Natural therapies do not exist for spinal muscular atrophy, as there are only a very small number of in vitro (test tube) studies showing an effect of nutrients on the remaining spinal motor neuron protein gene, SMN-2 (SMN-1 is the gene lost in SMA). In one of these, curcumin (from turmeric), EGCG (from green tea) and resveratrol (from red grapes and Japanese knotweed) were able to increase the rate of SMN-2 producing the full-length, functional SMN proteins, as it usually makes shorter, useless ones. This of course meant that cells of patients with SMA began to contain more of the full SMN proteins, and it may mean that these polyphenols could be a useful adjunct to Spinraza. The drug should be available to anyone who needs it, as should anything that is the only treatment for a disease this serious.