Consistent DMT access is major concern for caregivers in Canada
Report cites need for equitable delivery of costly SMA disease-modifying therapies
Consistent access to disease-modifying therapies (DMTs) is a major concern for parent caregivers of children with spinal muscular atrophy (SMA) in Canada, a study reported.
Barriers to such treatments, as described by caregivers, included variable regulatory approvals across different Canadian provinces, high costs, and insufficient healthcare infrastructure.
“Our results highlight the need for the effective and equitable delivery of costly, life-sustaining therapies,” the researchers wrote.
SMA caregiver experiences were detailed in the study “Understanding caregiver experiences with disease-modifying therapies for spinal muscular atrophy: a qualitative study,” which was published in the journal Archives of Disease in Childhood.
Most cases of SMA are characterized by a decline in motor abilities and chronic breathing problems beginning in early childhood.
Historically, treatments aimed to ease SMA symptoms and provided breathing and feeding support. Recently, the development of multiple DMTs and the implementation of newborn genetic screening programs have led to a marked improvement in motor function and survival of SMA patients.
These changes in treatment have redefined the healthcare experiences of both SMA patients and family caregivers.
As such, “a more comprehensive understanding of the caregiver and patient experience with SMA in the early stages of the disease-modifying therapy era is required to inform effective healthcare delivery and navigation,” wrote researchers based at the Hospital for Sick Children, in Canada.
To explore the patient and family experiences in accessing and receiving DMTs during this early period, the team interviewed 15 parent caregivers (11 mothers and four fathers) of SMA patients.
Patients ranged in age from infancy to more than 11 years; 10 were female and five were male. SMA diagnoses included five patients with type 1, five with type 2, and five with type 3. Ten patients were unable to walk, five received help with breathing, and six received feeding support. Regarding DMTs, 14 had been treated with Spinraza (nusinersen), four with Zolgensma (onasemnogene abeparvovec), and two with Evrysdi (risdiplam).
SMA parent caregivers cite two main concerns
From the interviews, which were audio recorded and transcribed anonymously, two main themes emerged: inequities in accessing DMTs and patient and family experience with DMTs.
Caregivers also identified multiple barriers to accessing such treatments, including different regulatory approvals across provincial jurisdictions, cost, and insufficient infrastructure to support rapid DMT delivery.
Several families with SMA children had moved to Canada from various countries in search of DMTs, which were not available in their countries of origin.
Still, some caregivers were unsuccessful in obtaining sustained DMTs after relocating. For example, one child had to stop Spinraza due to its ineffectiveness and complications related to administration. Another family had sought Zolgensma, but didn’t meet the local eligibility criteria. One family successfully relocated to the U.S. to access Zolgensma before it was approved in Canada.
Before regulatory approvals and the establishment of provincially funded reimbursement criteria, financial coverage was crucial for accessing costly DMTs. Caregivers pursued various avenues, such as clinical trials, therapy lotteries, fundraising, and compassionate use applications. Despite these challenges, caregivers were determined to prioritize drug access for their children.
Even after regional reimbursement criteria were established, which improved therapy accessibility, some children were still excluded due to restrictive criteria.
Although it is known that early DMT treatment leads to better outcomes for SMA patients, some inefficiencies and barriers hindered their timely administration. These included delayed diagnosis, difficulty obtaining drug and financial approvals, and limited health system capacity.
Burdens associated with treatment
While the availability of new DMTs provided hope for most caregivers, many also acknowledged the burden associated with treatment.
Many families were desperate to obtain DMTs, but few considered the option of not pursuing treatment. Their decision to start DMTs was not considered a “free choice” because the prospect of severe disability or death without treatment was too difficult to imagine. Moreover, most caregivers could not choose a specific DMT due to limited availability, funding, and eligibility criteria.
Regardless, caregivers found hope in DMTs, believing they would enhance their child’s motor development and increase their chances of survival. “There was no hope. But now there’s hope for people,” one caregiver said. Some also hoped these therapies would lead to even more effective and widely available treatments.
Prior experience with SMA shaped caregiver hopes and expectations for their children. Among patients with more advanced disease, caregivers hoped for stability, longevity, and small motor improvements. By contrast, caregivers of children treated early wanted normalcy and independence. Caregivers were able to balance their hopes for their children with realistic expectations of the DMTs.
Finally, there was widespread acknowledgment of the absence of long-term safety and effectiveness data, and some expressed concerns about future DMT eligibility and funding. Also, there were uncertainties about transitioning to adulthood and ensuring continued access to treatments.
“The rapidly evolving landscape of care for individuals with SMA has altered the patient and caregiver experience,” the researchers wrote. “Ongoing partnerships with patients and family caregivers will ensure that multiple stakeholder perspectives are used to inform healthcare system changes.”
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