Genetic Condition Caused By SMN1 Gene Mutation
Damage or deficient SMN1 leads to a lack of SMN protein in the brainstem and spinal cord. SMN is responsible for motor neuron development, which control muscle movement.
Lack of Enough SMN Leads To Progressive Symptoms
The lack of SMN leaves patients suffering from a host of life-altering and life-threatening symptoms. These symptoms vary in severity, depending on how much SMN protein patients have to create motor neurons. Symptoms can include the inability to sit, stand, or walk, developmental delay, breathing difficulties, and swallowing difficulties.
Patients with both SMA I and II experience muscle fasciculations, or involuntary twitching of the muscles. Infants with SMA I experience this on the tongue as well.
Children suffering from Type I and II SMA experience decreased or absent deep tendon reflexes, such as the ones that occur when you tap on the knee, elbow, or wrist.
Children suffering from SMA I and II develop numerous respiratory problems. Respiratory infections such as pneumonia are common. Patients battling SMA III rarely experience respiratory complications.
Diminished Muscle Tone
Patients with severe SMA suffer from hypotonia, or diminished muscle tone. Patients with SMA I develop symptoms of hyoptonia in the first few months of life, while patients with SMA II see this symptom become prevalent between 6-12 months of age.
Muscle weakness prevents children with SMA I from being able to sit up, support their head, or walk. Patients with SMA II have difficulty standing and walking, and often require a wheelchair very early in life. Muscle weakness also leads to swallowing problems for both Type I and some Type II patients. Children with SMA III may not walk or stand on their own, while others do.
Severely Shortened Lifespan
Sadly, without treatment for SMA, the lifespan of patients is severely shortened, especially for patients diagnosed with the most severe forms of the disease. It is imperative that patients receive access to life-sustaining treatment as soon as possible after diagnosis to help slow down or halt progress of life-threatening symptoms.
Hope for SMA Patients and Their Families
In 2016, the first ever treatment for SMA was approved in the US and European Union. Spinraza, created by Biogen Pharmaceuticals, provides patients with a synthetic version of the SMN proteins their bodies are lacking. This treatment was passed through the approval process in both the US and Europe because of the tremendous unmet need the treatment addressed in patients. Spinraza was given Health Canada approval in mid-2017.
Clinical trial results were very promising, with patients seeing “clinically meaningful improvement in motor function compared to untreated individuals.” Studies have shown that Spinraza will be beneficial to all types of patients battling SMA.Jump To Biogen’s US Spinraza Information Page
Reimbursement of Treatments for Rare Diseases in Canada – A Long and Arduous Process
From an access standpoint, there is no reason for delay, and no reason why patients who need access can’t receive it soon after regulatory approval from Health Canada. Patients suffering from these rare and progressive diseases don’t have the luxury of time on their side, and the current process is long and arduous. Biogen can and should help patients now while these processes play out, and I remain hopeful that they will for all types of SMA. Andrew McFadyen, Executive Director, The Isaac Foundation
If a drug receives a positive recommendation, the file then moves to the pCPA (Pan-Canadian Pharmaceutical Alliance) for bulk pricing negotiations. In this stage, negotiators assigned to represent all prices open discussions with the company in an attempt to come to terms on the cost. Because rare disease drugs are often some of the most expensive in the world, these negotiations take a very long time – anywhere from 6-18 months. If negotiations result in a deal, provinces can then decide to accept the deal and begin delivering the drug to patients on their drug plan. Occasionally, no deal is able to be struck between pCPA and the company, and the drug remains difficult or impossible to secure for patients in need.
While these processes undergo their reviews, Physicians with patients suffering from a rare disease may fill out a request for reimbursement application and submit it to the provincial Ministry of Health. From there, the application is reviewed and a decision to cover the cost of treatment is either approved or, in most cases, denied. Most reasons governments provide for denial are due to a lack of evidence of the benefits these treatments provide patients, especially while the CADTH reviews are in place. In many provinces, policies are in place that prevent these decisions from being rendered until the above reviews have been completed. Companies can work directly with governments to see how drugs can be accessed while reviews are taking place, and they are often encouraged to show a willingness to help provide access for their patient population by drugs on a compassionate use basis.
In Canada, Biogen has agreed to provide drug to patients battling SMA Type I only (approx. 30 patients in Canada out of an estimated 700 total SMA patients). The Isaac Foundation has made numerous proposals to the company in an effort to open slots for patients in dire need who are suffering from Type 2 and 3 as well. We will continue these efforts and post any updates on our website if and when they are available.
Bureaucratic Path to Reimbursement – Information and Estimated Timelines
Bureaucratic Path to Reimbursement Could Take 18-24 Months Longer
STEP 1 - Approval By Health Canada
Biogen submits SPINRAZA to Health Canada for review and approval for use in Canada. The review was considered a “priority” review because of the potential impact the therapy could have on patients. Submission took place in December of early 2017, and approved by Health Canada in June of 2017.
STEP 2 - Submission and Review to the Common Drug Review (CDR)
The Common Drug Review is a “process for conducting objective, rigorous reviews of the clinical, cost-effectiveness, and patient evidence for drugs.” The CDR completes their review and recommends to provinces whether a drug should be reimbursed or not. Submission to CADTH for CDR review took place in late June, 2017. A decision could be rendered at the end of 2017.
STEP 3 - Negotiations Begin With the Pan-Canadian Pricing Alliance (pCPA)
The Pan-Canadian Pricing Alliance works to capitalize “on the combined ‘buying power’ of drug plans across multiple provinces and territories” to bring the cost of expensive treatments down. If SPINRAZA receives a recommendation at CDR to continue to the pCPA negotiation process, negotiations could take 12-18 months.