EE704 Risdiplam for the Treatment of Spinal Muscular Atrophy: Impact on the National Healthcare Service During the First 15 Months of Commercialization in Italy
The objective of this study was to evaluate the impact of risdiplam on the Italian National Healthcare Service (SSN) during the first 15 months of commercialization. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: G. Ghetti, I. Neri, M. Ferrario Source Type: research
RWD129 Cost Effectiveness of Onasemnogene Abeparvovec in Infants with Presymptomatic Spinal Muscular Atrophy in Italy
Spinal muscular atrophy (SMA) is a devastating rare disease and the most common genetic cause of infant death. Patients with SMA are lacking survival motor neuron 1 (SMN1) gene, leading to reduced SMN protein, loss of functional motor neurons, and progressive, debilitating and often fatal muscle weakness. Though SMN1-targeting treatments like onasemnogene abeparvovec, a one-time gene therapy infusion, can be costly, they provide significant motor improvements in patients with SMA. We sought to assess the cost effectiveness of treatment with onasemnogene abeparvovec versus other disease-modifying agents in infants with gene...
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: I. Valentini, G. Ghetti, M. Pane, A. Cicchetti, F. Rumi, E. Di Brino, M. Basile, G. Pistillo, M. Bischof Source Type: research
RWD164 The Impact of Spinal Muscular Atrophy (SMA) Type 1 on Caregivers in Taiwan: Results of a Global Survey
Data on the impact of costs associated with care for SMA type 1 patients are limited. We sought to describe sociodemographics, health care resource use (HCRU), and time costs for patients with SMA type 1 in Taiwan. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: A. Patel, K. Yang, W. Toro, O. Dabbous, Y.J. Jong Source Type: research
PT42 The Impact of Spinal Muscular Atrophy Type 2 on Caregivers in Argentina: Results of a Global Survey
Spinal muscular atrophy type 2 (SMA2) is an intermediate form of spinal muscular atrophy, characterized by progressive muscle weakness and atrophy. Evidence on the impact of disease management and support on caregivers of patients with SMA2 is limited, and therefore we sought to describe health care resource use, time costs, and out-of-pocket expenditures for the families/caregivers of these patients in Argentina. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: A. Patel, W. Toro, M.E. Esquerro, O. Dabbous Source Type: research
Viral Vectors in Gene Replacement Therapy
AbstractThroughout the years, several hundred million people with rare genetic disorders have been receiving only symptom management therapy. However, research and development efforts worldwide have led to the development of long-lasting, highly efficient, and safe gene therapy for a wide range of hereditary diseases. Improved viral vectors are now able to evade the preexisting immunity and more efficiently target and transduce therapeutically relevant cells, ensuring genome maintenance and expression of transgenes at the relevant levels. Hematological, ophthalmological, neurodegenerative, and metabolic therapeutic areas h...
Source: Biochemistry (Moscow) - December 1, 2023 Category: Biochemistry Source Type: research
Genes, Vol. 14, Pages 2159: Real-Time PCR-Based Screening for Homozygous SMN2 Deletion Using Residual Dried Blood Spots
Discussions regarding the relationship between homozygous SMN2 deletion and motor neuron diseases, including amyotrophic lateral sclerosis, have been mainly based on retrospective epidemiological studies of the diseases, and the precise relationship remains inconclusive. In the present study, we first estimated that the frequency of homozygous SMN2 deletion was ~1 in 20 in Japan. We then established a real-time polymerase chain reaction (PCR)-based screening method using residual dried blood spots to identify infants with homozygous SMN2 deletion. This method can be applied to a future prospective cohort study to clarify t...
Source: Genes - November 29, 2023 Category: Genetics & Stem Cells Authors: Yoshihiro Bouike Makoto Sakima Yuya Taninishi Takanori Matsutani Yoriko Noguchi Ryosuke Bo Hiroyuki Awano Hisahide Nishio Tags: Article Source Type: research
Multidisciplinary physical rehabilitation program of individuals with spinal muscular atrophy in an inclusive school setting
This study employed a repeated pre-test post-test measures design. During a year of treatment sessions, the child underwent twice weekly 45-minute physical therapy sessions for 48 weeks. The research was carried out between March 2022 and February 2023. The purpose of the intervention, which comprised a variety of therapeutic workouts, was to enhance physical function and gross motor abilities in an age-appropriate manner. The intervention utilized in this study led to improvements in GMFM-88, HFMS, and MMT total scores. The results of this case study showed that a child with type 2 SMA aged nine had successfully improved ...
Source: Journal of Pediatric Rehabilitation Medicine - November 26, 2023 Category: Rehabilitation Authors: Faruq Ahmed Asma Islam Suria Akter Md Abdullah Al Zubayer Md Nasim Mahmud Hosneara Yeasmin Zannatul Mawa Source Type: research
