The past two and a half years have seen a whirlwind of celebration in the world of SMA. What I consider one of the best gifts possible for families arrived on Dec. 23, 2016 when, for the first time ever, the FDA gave its approval to an SMA treatment, Spinraza (nusinersen).
In SMA patients, the SMN1 gene is defective and does not produce sufficient SMN protein, which is essential for motor function, and the backup SMN2 gene doesn’t produce enough protein to compensate. Spinraza, designed to boost the efficacy of the SMN2 gene in producing functional SMN protein, is administered via injection on an eventual schedule of every four months, after a loading phase and a maintenance phase. It is injected intrathecally — meaning directly into the central nervous system in the lower back.
Many Spinraza recipients have shared generally positive experiences with respect to motor function. Results include improved strength and endurance, unassisted sitting, standing, and walking, and maintenance of milestones that would typically be lost with age.
Accounts and videos of extraordinary transformations at all ages and for all types of SMA are plentiful and mesmerizing. Watching babies and children with type 1 move freely — move at all, actually — boggles my mind.
For me, Spinraza qualifies as a wonder drug.
Friday, May 24 brought an even bigger announcement: approval by the Food and Drug Administration of Zolgensma (onasemnogene abeparvovec-xioi), a gene therapy for children with all types of SMA from birth through 2 years. This one-time therapy replaces the defective SMN1 gene with one that functions normally; consequently, it doesn’t matter that the back-up SMN2 gene is inadequate.
For these youngest patients, the replacement SMN1 gene (and the viral vector serving as a carrier) is administered intravenously. Gene therapy for older and larger patients that will be administered intrathecally, like Spinraza, is in the works. Did I mention that this will be a one-time procedure?
Zolgensma is another revolutionary development in the world of SMA — and it occurred in my lifetime! I can’t think of any words that accurately describe the feeling I had reading and rereading the news about this breakthrough gene therapy. “Overwhelmed” will have to suffice.
Because of these two — two! — incredibly successful treatments, I don’t think families that have had a member diagnosed with SMA since December 2016 will be able to imagine old-school SMA life — not that they’d want to. Long before Spinraza, the amino acid diet, and at least a few physicians well-versed in SMA, new families were left reeling from an indescribable one-two punch: a diagnosis of something they’d never heard of and a prognosis with unimaginable ramifications. There was no mention of a treatment, cure, or smidgeon of hope — not even a suggestion of something on down the road.
Morphine, which would ease the inevitable end of life, was the best doctors had to offer back then.
As is typical for those with type 1, my son Jeffrey only slightly exhibited any movement at his strongest (a term used loosely). He nursed from birth but tired quickly, and then lost his suck and swallow. I was in the process of investigating a feeding tube when our “assignment” took a nosedive.
His cry and cough were always weak. When he became unable to sit up without suctioning, lying on a pillow in his mama’s lap became the norm. By the end, he’d lost his smile, but there wasn’t much to smile about, anyway, other than all the love that surrounded him. He never lost his sweet disposition or the ability to communicate with his big, beautiful, chocolate-colored eyes.
Our brief stint with SMA was, presumably, fairly typical in most ways to those of 20-plus years ago. It included the suction machine and a disastrous experiment with an In-Exsufflator (cough machine) that resulted in three episodes of respiratory arrest, an ER visit, one night in the hospital with BiPAP, and the addition of a lovely, large oxygenator to our home decor. Hospice and morphine soon followed. And then it ended.
Today, with the push to include SMA in newborn screening, more and more babies diagnosed at birth will promptly receive Zolgensma or begin Spinraza. It is the hope and expectation that, with timely administration of one or the other, the signs of SMA will never materialize.
I’m not sure families who are new to SMA can fully appreciate the significance of that.
Meanwhile, those in the old-school group, whose active SMA duties ended years ago, likely can’t wrap their heads — or hearts — around what is becoming the “new-school” version of SMA, either: diagnosis at birth, immediate treatment, celebration.
Spinraza and Zolgensma are treatments; however, both have already established impressive potential to obliterate SMA’s notoriety as the leading genetic killer of children under 2. In addition, they both enable those diagnosed at later ages to lead improved lives and those diagnosed at birth to lead typical lives. These commendable achievements are worthy of a Nobel Prize.
It’s definitely the stuff that old-school dreams were — are — made of.
Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.