How children and caregivers viewed the change from nusinersen to risdiplam for treating spinal muscular atrophy

Agosto, Caterina; Benedetti, Francesca; Salamon, Eleonora; Mercante, Anna; Papa, Simonetta; Giacomelli, Luca; Santini, Anna; Benini, Franca

doi:10.1111/apa.16568

Cited by 4 publications

(4 citation statements)

References 5 publications

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“…The high expectations that patients and families have had for nusinersen have been very difficult to meet, leading to disappointment, frustration, and discontinuation of treatment [178]. Agosto et al reported a frustrating clinical situation with nusinersen treatment.…”

Section: Switching Therapies In Adults With Smamentioning

confidence: 99%

“…Considering the patients' anxiety and distress from the burdensome procedure of intrathecal injection over a lifetime, and the frustration with no perceived improvement, they became skeptical about giving all patients nusinersen treatment [179]. They finally provided extensive information about the possibility of switching from nusinersen to risdiplam treatment for the patients [178].…”

Section: Switching Therapies In Adults With Smamentioning

confidence: 99%

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Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

Nishio

Niba

Saitô

et al. 2023

IJMS

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Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the phenotypic variation of SMA led to controversy regarding the clinical entity of the disease, the genetic homogeneity of SMA was proved in 1990. Five years later, in 1995, the gene responsible for SMA, SMN1, was identified. Genetic testing of SMN1 has enabled precise epidemiological studies, revealing that SMA occurs in 1 of 10,000 to 20,000 live births and that more than 95% of affected patients are homozygous for SMN1 deletion. In 2016, nusinersen was the first drug approved for treatment of SMA in the United States. Two other drugs were subsequently approved: onasemnogene abeparvovec and risdiplam. Clinical trials with these drugs targeting patients with pre-symptomatic SMA (those who were diagnosed by genetic testing but showed no symptoms) revealed that such patients could achieve the milestones of independent sitting and/or walking. Following the great success of these trials, population-based newborn screening programs for SMA (more precisely, SMN1-deleted SMA) have been increasingly implemented worldwide. Early detection by newborn screening and early treatment with new drugs are expected to soon become the standards in the field of SMA.

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Section: Switching Therapies In Adults With Smamentioning

confidence: 99%

Section: Switching Therapies In Adults With Smamentioning

confidence: 99%

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

Nishio

Niba

Saitô

et al. 2023

IJMS

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“…Furthermore, intrathecal nusinersen administration could be challenging or even impossible in patients with reduced spinal access due to severe scoliosis or scoliosis surgery-related spinal fusion [ 6 , 7 ]. Thus, from a safety and effectiveness perspective, collecting more scientific evidence and experience on a switch from nusinersen to other therapies is of high importance [ 5 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

Switching from Nusinersen to Risdiplam: A Croatian Real-World Experience on Effectiveness and Safety

Belančić,

Strbad,

Kučan Štiglić

et al. 2024

JPM

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(1) Background: Data on combination or sequential treatment of spinal muscular atrophy (SMA) with disease-modifying drugs (DMDs) are missing and the latter field is poorly understood. The currently available data of patients on risdiplam previously treated with nusinersen are coming from exploratory research mainly focused on safety. Our aim was to investigate the real-world effectiveness (hypothesising non-inferiority) and safety profile of risdiplam in a paediatric-and-adult nusinersen–risdiplam spinal muscular atrophy switch cohort. (2) Methods: A retrospective and anonymous collection of relevant demographic and clinical data for all Croatian SMA patients switched from nusinersen to risdiplam up to September 2023 (reimbursed by Croatian Health Insurance Fund—CHIF) was performed using the CHIF database and associated reimbursement documentation. Patients were included in effectiveness and safety analysis if they met the following inclusion criteria: (i) risdiplam was reimbursed by the CHIF; (ii) the patient received at least six doses of nusinersen before the switch to risdiplam; (iii) there was no relevant pause between the latter disease-modifying drugs; (iv) availability of all prespecified studied data and parameters. (3) Results: In total, 17 patients met the inclusion criteria (58.9% female; median age 12.75 (3.0–44.5) years). In our ‘switch’ cohort, we demonstrated a non-inferiority of risdiplam to nusinersen in the SMA 1 (+1.0 in CHOP INTEND; p = 0.067), SMA 3p (+0.7 in HFMSE; p = 0.897), and SMA 3a (+0.8 in RHS; p = 0.463) subpopulations, during a one-year follow-up period. There were no reports on respiratory function worsening, feeding worsening, and no lethal events. No new safety concerns were identified, except for the weight gain that arose as a new potential adverse drug reaction ‘signal’ in two patients. (4) Conclusions: We have reported pivotal real-world findings on switching SMA patients from nusinersen to risdiplam and demonstrated its effectiveness (non-inferiority), safety, and tolerability in a heterogenous paediatric-and-adult ‘switch’ cohort; this will further increase the quality and standards of care as well as safety of a notable portion of SMA patients, especially for those who demand the switch from nusinersen to other DMDs for clinical or personal reasons.

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“…Thus, from safety and effectiveness perspective, collecting more scientific evidence and experience on a switch from nusinersen to other therapies is of high importance. [5,8].…”

Section: Introductionmentioning

confidence: 99%

Switching from Nusinersen to Risdiplam: Croatian Real-World Experience on Effectiveness and Safety

Belančić,

Strbad,

Kučan Štiglić

et al. 2023

Preprint

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(1) Background: Aim was to investigate real-world effectiveness (hypothesizing non-inferiority) and safety profile of risdiplam in paediatric and adult nusinersen-risdiplam spinal muscular atrophy (SMA) switch cohort. (2) Methods: A retrospective and anonymous collection of relevant demographic and clinical data for all Croatian SMA patients switched from nusinersen to risdiplam up to September 2023 (reimbursed by Croatian Health Insurance Fund – CHIF) was performed using CHIF database and associated reimbursement documentation. Patients were included in effectiveness and safety analysis if they met the following inclusion criteria: i) risdiplam reimbursed by CHIF; ii) patient received at least 6 doses of nusinersen before switch to risdiplam; iii) no relevant pause between the latter disease modifying drugs (DMDs); iv) availability of all prespecified studied data and parameters. (3) Results: 17 patients met inclusion criteria [58.9% female; median age 12.75 (3.0-44.5) yr.]. In our ‘switch’ cohort, we have demonstrated a non-inferiority of risdiplam to nusinersen, in SMA 1 (+1.0 in CHOP INTEND; p=0.067), SMA 3p (+0.7 in HFMSE; p=0.897) and SMA 3a (+0.8 in RHS; p=0.463) subpopulations, during a one-year follow-up period. There were no reports on respiratory function worsening, feeding worsening, and no lethal events. No new safety concerns were identified, except of the weight gain that arose as a new potential adverse drug reaction ‘signal’ in two patients. (4) Conclusions: We have reported a pivotal real-world findings on switching SMA patients from nusinersen to risdiplam and demonstrated its effectiveness (non-inferiority), safety and tolerability in a heterogenous paediatric and adult ‘switch’ cohort, which will further increase the quality and standards of care as well as safety of a notable portion of SMA patients; especially for those who demand switch from nusinersen to other DMDs from clinical or personal reasons.

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How children and caregivers viewed the change from nusinersen to risdiplam for treating spinal muscular atrophy

Cited by 4 publications

References 5 publications

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

Switching from Nusinersen to Risdiplam: A Croatian Real-World Experience on Effectiveness and Safety

Switching from Nusinersen to Risdiplam: Croatian Real-World Experience on Effectiveness and Safety

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