Qualitative Study Explores Caregiver Experiences in SMA Treatment

Caregivers of patients with spinal muscular atrophy (SMA) identified therapeutic access as a primary challenge and source of burden, according to a recent study published in Archives of Disease in Childhood.

The availability of 3 novel gene therapies—nusinersen, risdiplam and onasemnogene abeparvovec—have dramatically altered the course of SMA treatment. In the wake of these FDA approvals, a qualitative study was designed to assess the experience of caregivers in SMA, their concerns about access to these disease-modifying therapies (DMTs), among other care-related aspects.

Child Being Cared For | image credit: Photographee.eu - stock.adobe.com

Investigators conducted this study in concurrence with the Consolidated Criteria for Reporting Qualitative Studies and consisted of semi-structured interviews. The cohort was made up of caregivers for children with varying SMA phenotypes and participants were recruited from The Hospital for Sick Children SMA clinic. The clinic followed around 50 children who were previously administered one or more DMTs. Of this group, 31 children had mechanical ventilation prescribed at home.

A total of 15 caregivers were available to participate. Interviews were conducted for a mean of 60 minutes and the vast majority were completed in a single session. Lena Xiao, MD, lead investigator, and colleagues observed 2 primary themes arising from the discussions: inequitable access to DMTs, and comments on family and patient experiences with DMTs.

Regarding concerns in the ability to access DMTs, caregivers highlighted how regulatory approvals vary in throughout different jurisdictions, financial barriers, and lacking infrastructure for the efficient and quick delivery of medication.

Variabilities in regulatory approvals influenced some families’ decisions to relocate. For example, if possible, many families moved from regions such as Ukraine, the Dominican Republic, China, and Pakistan to the United States or Canada for accessible care.

“The willingness of family caregivers to sacrifice for the well-being of their children was unwavering despite financial, social, psychological and physical challenges. In the most extreme cases, family caregivers gave up their livelihoods by relocating to different countries to access active interventions for their children with SMA,” investigators wrote.

Additionally, accessing costly DMTs relied on the ability to obtain adequate funds. This was noted as an extremely distressing process for caregivers who often had to seek out opportunities in clinical trials, fundraisers, therapy lotteries, among other forms of community support to have the resources to acquire the care they needed.

Because DMT outcomes benefit from earlier initiation, there was also lots of reported urgency around diagnosing SMA to begin therapy as soon as possible. Caregivers mentioned issues such as insufficiencies in the health system’s capacity, delays experienced in diagnosis, as well as reemphasized barriers in obtaining finances or medication to support their patients. As these DMTs became available, the health system struggled to support the needs of patients with SMA and their families seeking out the best care resources.

As the interviews continued, despite the promising benefits of novel DMTs, caregivers mentioned that lacking long-term data on efficacy and safety were factors that added extra burden on their care. Notably, pursing DMTs was not seen as a “free choice,” but perhaps the only choice afforded to them. In the same realm, there was limited choice in the type of DMT to pursue due to regulatory approvals in their area, eligibility for treatment, funding, and availability of therapeutics. These variables added to a considerable amount of fear and uncertainty experienced by caregivers.

Caregiver experiences were not entirely negative, however, because DMTs did offer large amounts of hope for the futures of their patients. “The caregiver for a child with SMA type 1 dependent on ventilation through a tracheostomy,” investigators wrote, “described dreaming of her child learning to walk while also acknowledging her primary hope for medical stability.”

To researchers’ knowledge, this was the first study to qualitatively investigate the intricate experiences of caregivers who were exploring the health systems’ capacity to access DMTs in SMA. Gaining insights into their experiences present a great opportunity to reflect on the current state of the health system and identify areas of improvement for the future care of patients with SMA.

Reference

Xiao L, Kang S, Djordjevic D, et al. Understanding caregiver experiences with disease-modifying therapies for spinal muscular atrophy: a qualitative study. Arch Dis Child. 2023;108(11):929-934. doi:10.1136/archdischild-2023-325762.