What is spinal muscular atrophy (SMA) and what causes it?
SMA is a genetic disorder that presents with weakness of arm and leg muscles as well as breathing difficulties. SMA is caused by mutations in a gene called SMN1 (survival motor neuron 1) that encodes for the SMN protein.
SMA is the most common genetic disorder linked to infant death worldwide, and affects about 9,000 individuals in the United States. Each year, about 400 babies in the US are born with this disease.
What is the drug and how does it work?
Spinraza (nusinersen) is a new medication that was recently approved by the US Food and Drug Administration (FDA) for the treatment of all forms of SMA. Multiple research studies, called clinical trials, have demonstrated that the drug significantly slows the disease’s progression and, in many cases, improves the strength of individuals with SMA. The drug is beneficial in approximately 40 percent of patients who receive it.
How is the drug given?
Spinraza is injected into the fluid surrounding the spinal cord (spinal fluid) through a needle inserted into the lower back. This method is called an “intrathecal injection,” and is performed during a procedure known as lumbar puncture, or spinal tap. The injection is similar to the epidural injections given to alleviate back pain or to reduce pain during childbirth.
While the spinal tap and Spinraza injection generally take 15-30 minutes, the entire process of preparing for the procedure, cleaning the lower back, and recovering afterwards can take 2 hours or more.
How often is the drug given?
Spinraza must be given multiple times, beginning with loading doses at days 1, 15, 30, and 60. Afterwards, patients are given regular (also called maintenance) doses every 4 months.
Does insurance cover the treatments?
Where applicable, the Columbia Neuromuscular team will work with each patient and family to obtain prior authorization from the patient’s insurance provider, if required before Spinraza can be administered. Each insurance company is likely to have its own requirements for determining coverage of Spinraza.
Who is eligible for treatment?
To receive Spinraza treatment at Columbia, patients must be registered and receiving care at a Columbia University Neuromuscular center. The Neuromuscular team will carefully review the status of each patient to evaluate the risks and benefits of this treatment, determine whether the patient is eligible, and plan an appropriate treatment schedule. Eligibility for Spinraza is established with genetic testing, routine blood work, urine tests, cardiac tests, and X-rays. Not every SMA patient will be eligible.
Are younger patients given a higher priority?
Newly diagnosed infants who are presymptomatic and meet the essential genetic testing criteria, will be given the highest priority. Clinical trial data indicate that the younger patients in earlier stages of the disease benefit most from the medication.
Do patients need to have genetic testing done?
Yes. This is important because some other disorders can mimic SMA, although they are genetically different. To establish eligibility for Spinraza, patients must undergo genetic testing, routine blood work, urine tests, cardiac tests, and X-rays. These can be performed during a clinic appointment.
How long will it take to begin treatment once eligibility has been established?
After establishing medical eligibility for Spinraza, it may take several weeks to begin treatment because insurance pre-authorization can be complicated and lengthly and treatment capacity at NYP-CUMC is approximately 10-12 patients weekly depending on patients’ requirements for anesthesia and x-ray guidance for the administration (see below).
What insurance is accepted for Spinraza?
We are accepting patients who have managed Medicaid, Tricare, and private insurance. We are investigating Medicaid coverage of Spinraza.
If I start drug treatment elsewhere, can I still get treated at Columbia?
Columbia patients who start Spinraza at another institution may switch to Columbia for ongoing Spinraza injections after the loading period is completed and as NYP-CUMC treatment capacity allows.
Is anesthesia required for drug injections?
Most adults tolerate the spinal injection easily with only a local injection of lidocaine (Novocain). General anesthesia may be used for some children receiving Spinraza depending on their age, physical strength, respiratory status, and other factors. For example, many children between the ages of about 2 and 12 years old are not able to lie still during the brief injection, so anesthesia may be used during administration of the drug.
Can patients with scoliosis or spinal rods receive the drug?
In general, patients with scoliosis or spinal rods can receive treatment. Each case will be reviewed individually to determine there the best location in the lower back for injecting the drug. In some cases, x-ray images may be required to guide placement of the spinal needle, a procedure called fluoroscopy.
Can patients on ventilators receive the drug?
Yes, qualifying patients on ventilators can receive the treatment as long as the medical team determines that the procedure can be performed safely.
Will the drug cause side effects?
Although no significant side effects have been seen with Spinraza, we will monitor patients for potential side effects on the kidneys and blood counts. The potential side effects of Spinraza are listed on Biogen’s website.
Why do patients have to undergo physical therapy assessments?
Physical therapy assessments allow us to measure the treatment’s effectiveness. In clinical trials, SMA patients showed varying degrees of improvement and, in some cases, no detectable improvements were seen. Based on these assessments, we may also prescribe physical therapy to further enhance strength and functions. Once the maintenance drug dosing regimen has begun, we may recommend that patients return every four months for evaluation by our team of SMA experts (physicians, therapists, and nurses) to determine whether they are getting the most benefit possible from this treatment. In addition, some insurance companies require that providers submit evidence of benefit from the drug in order to qualify for continuing financial coverage of Spinraza after the loading doses.