Spinraza Treatment Begins | AJ Brockman

The long-awaited day I have been hoping for pretty much as long as I can remember has arrived. It's official, I got my first dose of Spinraza. I posted a while back on an up-and-coming drug treatment for my condition (SMA) called Spinraza. This treatment has shown amazing results in pediatric patients acting as a "cure" if administered early enough. Adults are now approved for treatment and although the impact is substantially less, it could prevent me from getting weaker and/or deteriorating further which is a huge breakthrough. After almost a year of navigating the insurance, prerequisites, genetic testing and Dr. referrals, tomorrow morning it goes down. I will have to receive this treatment every few months for the rest of my life but that is a small price to pay… The spinal tap not so much.

Spinal Muscular Atrophy (SMA)

SMA is a rare neuromuscular disorder characterised by loss of lower motor neurons and progressive muscle wasting, often leading to early death. The disorder is caused by a genetic defect in the SMN1 gene, which encodes SMN, a protein widely expressed in all eukaryotic cells (that is, cells with nuclei, including human cells) and necessary for survival of motor neurons. Lower levels of the protein results in loss of function of neuronal cells in the anterior horn of the spinal cord and subsequent system-wide atrophy of skeletal muscles.

Spinal muscular atrophy manifests in various degrees of severity, which all have in common progressive muscle wasting and mobility impairment. Proximal muscles, arm and leg muscles that are closer to the torso and respiratory muscles are affected first. Other body systems may be affected as well, particularly in early-onset forms of the disorder. SMA is the most common genetic cause of infant death.

Spinal muscular atrophy is an inherited disorder and is passed on in an autosomal recessive manner. In December 2016, nusinersen (marketed as Spinraza) became the first approved drug to treat SMA while several other compounds remain in clinical trials.

Nusinersen

Marketed as Spinraza, is a medication used in treating spinal muscular atrophy (SMA), a rare neuromuscular disorder. In December 2016, it became the first approved drug used in treating this disorder. Nusinersen has orphan drug designation in the United States and the European Union.

The drug is used to treat spinal muscular atrophy associated with a mutation in the SMN1 gene. It is administered directly to the central nervous system (CNS) using intrathecal injection.

In clinical trials, the drug halted the disease progression. In around 60% of infants affected by type 1 spinal muscular atrophy, the drug also significantly improved motor function.