Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen

Bonanno, Silvia; Zanin, Riccardo; Bello, Luca; Tramacere, Irene; Bozzoni, Virginia; Caumo, Luca; Ferraro, Manfredi; Bortolani, Sara; Sorarù, Gianni; Silvestrini, Mauro; Vacchiano, Veria; Turri, Mara; Tanel, Raffaella; Liguori, Rocco; Coccia, Michela; Mantegazza, Renato; Mongini, Tiziana; Pegoraro, Elena; Maggi, Lorenzo

doi:10.1007/s00415-021-10954-3

Cited by 11 publications

(7 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Conversely, such improvement in fatigue was not observed in the dalfampridine trial. Discrepancies between changes in the 6MWT and the INQoL fatigue-related item have been already reported in a large cohort of Italian adult SMA patients treated with nusinersen and a further study showed that the perceived fatigue does not correlate with fatigability, which represents the objective measure of fatigue [ 42 , 43 ]. Overall, these findings support the use of INQoL scale as a complementary tool in SMA patients’ evaluation.…”

Section: Discussionmentioning

confidence: 98%

Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial

et al. 2022

Self Cite

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 98%

Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial

et al. 2022

Self Cite

View full text Add to dashboard Cite

“…However, these findings align with a recently published multicenter study conducted in Italy, which evaluated the impact of Nusinersen treatment on a group of adult SMA patients, including 69 individuals with type III SMA. The study reported an improvement in HRQoL over a 14-month period of Nusinersen treatment ( 53 ).…”

Section: Discussionmentioning

confidence: 99%

The socioeconomic burden of spinal muscular atrophy in Saudi Arabia: a cross-sectional pilot study

Alotaibi,

Alsuhaibani,

Al-Essa

et al. 2024

Front. Public Health

View full text Add to dashboard Cite

BackgroundSpinal muscular atrophy (SMA) is a rare debilitating condition with a significant burden for patients and society. However, little is known about how it affects Saudi Arabia's population. The socioeconomic and medical characteristics of affected SMA patients and their caregivers are lacking.PurposeThis study aimed to describe the socioeconomic and medical characteristics of SMA patients and caregivers in Saudi Arabia.Patients and methodsA cross-sectional questionnaire-based study was conducted using snowball sampling. Assessment tools including EuroQol (EQ-5D-5L) and visual analog scale (EQ-VAS), Generalized Anxiety Disorder 7-item (GAD-7), Patient Health Questionnaire (PHQ-9), and Costs for Patients Questionnaire (CoPaQ) were used to assess the quality of life (QoL), anxiety, depression, and out-of-pocket expenditures.ResultsSixty-four caregivers of SMA patients participated. Type I patients had higher sibling concordance, ICU hospitalization, and mechanical support needs. Type III patients had better QoL. Type I patients' caregivers had higher depression scores. Type III patients' caregivers had higher out-of-pocket expenditures. Forty-eight percent received supportive care, while others received SMA approved therapies.ConclusionSMA imposes a significant socioeconomic burden on patients and caregivers, requiring more attention from the healthcare system. Access to innovative therapies varied across SMA types. Pre-marital screening and early detection are crucial to reduce disease incidence and ensure timely treatment.

show abstract

“…The final score for each subscale is presented as a percentage of the maximum negative impact. The closer the score is to 100%, the worse the aspects affects QoL [29].…”

Section: Quality Of Lifementioning

confidence: 99%

Limb–Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study

Rodríguez

Amayra

García

et al. 2023

Muscles

View full text Add to dashboard Cite

The present study is the first research that analyzes the quality of life (QoL) of people affected by a dominant form of limb–girdle muscular dystrophy, specifically limb–girdle muscular dystrophy D2 (LGMD-D2). Additionally, clinical forms of the individual cases of the six affected patients are presented. This study also aims to explore the differences between patients’ reports and caregivers’ reports, and between LGMD-D2 and recessive forms of LGMD. The instruments used were as follows: sociodemographic data, GSGC, and INQoL instrument. The sample consisted of six people affected by LGMD-D2: three caregivers of three affected people, and three patients with recessive LGMD. They came from associations of affected people and a hospital in Padua. Those affected have multiple symptoms that lead to disability, which ultimately leads to dependence on the assistance. The present study shows that LGMD-D2 has a greater impact on activities of daily living, fatigue, muscle pain, and independence than other LGMD pathologies or other neuromuscular diseases. It also appears that age could influence QoL, and that muscle weakness is a very disabling symptom in this variant. In the current context of constantly developing research for new treatments, it is essential to analyze which aspects are most affected. Finally, caregivers can play an essential role in symptom reporting, as certain psychological adjustment mechanisms in the patient may be interfering with the objectivity of the report.

show abstract

Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen

Cited by 11 publications

References 43 publications

Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial

Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial

The socioeconomic burden of spinal muscular atrophy in Saudi Arabia: a cross-sectional pilot study

Limb–Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study

Contact Info

Product

Resources

About