Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy

Palliative Care in Pediatric Pulmonology

“…The past decade has seen substantial growth in the number of available novel therapies in treating specific neuromuscular disorders, especially Duchenne's Muscular Dystrophy, Spinal Muscular Atrophy, and Limb Girdle Muscular Dystrophy. In broad terms, these treatments utilize a variety of approaches to either target the dysfunctional mutation through pre-mRNA splicing, replace mutated genes using a viral vector, or by upregulating other physiologic products in the muscle with similar properties to the dysfunctional protein [47,48]. For many patients, these therapies provide significant improvement in physical functioning, disease-related biomarkers, and slowing the progression of illness.…”

“…However, many neuromuscular disorders do not yet have effective targeted therapies. Even within groups who are eligible to receive novel agents, accessibility remains a key barrier to patients receiving the medication [48].…”

Importance of Patient Involvement in the Value Assessment Process: On the Way Towards Personalised Treatments

“…Patient advocacy efforts have already underpinned the value of stabilisation, with specific and detailed patient input from daily life experience [19]. Stabilisation stops the progression of the disease, so people do not lose more life-years, but importantly also gives them a change in perspective and hope, directly positively impacting their quality of life.…”

“…In SMA, we are facing (sub-)population-level value assessments and reimbursement decisions that are not capturing the full picture of this spectrum disease. This has caused many inequalities in our community and led to enormous distress [19]. The implementation of a revised SMA classification, which does not purely rely on the diagnosed type but reflects the current mobility status [19], is a relevant change, but still has its limitations in reflecting reality.…”

Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management

“…Nusinersen, onasemnogene abeparvovec and risdiplam are changing the management of SMA from previously supportive approaches to treatments that can alter the natural history of the disease [29]. Subsequent to the approval of nusinersen by the European Medicines Agency, a survey across 26 European countries revealed that although almost 95% (94.7%) of patients with SMA wanted to initiate an approved treatment, nearly three quarters (73.2%) of participants with SMA in a recent European survey were not receiving treatment, with a lack of access cited as the most common reason [30].…”