Vaccination proposal for patients on onasemnogene abeparvovec therapy
Eur J Paediatr Neurol. 2024 Mar 1;49:95-99. doi: 10.1016/j.ejpn.2024.02.010. Online ahead of print.ABSTRACTThe approval of disease-modifying treatment in spinal muscular atrophy made the condition less severe. The course of the disease changed, but some new concerns occurred with the different new therapies. The side effects of onasemnogene aboparvovec therapy can raise differential diagnostic challenges and necessitate immune therapy, leading to immunosuppression affecting response to vaccines. We provide a pretherapy screening proposal from an infectological point of view separately for newborns treated presymptomaticall...
Source: European Journal of Paediatric Neurology - March 8, 2024 Category: Neurology Authors: Sarolta Dobner Andrea Kulcs ár Zolt án Liptai Zsuzsanna Vojnisek Tam ás Constantin L éna Szabó Source Type: research
Vaccination proposal for patients on onasemnogene abeparvovec therapy
Eur J Paediatr Neurol. 2024 Mar 1;49:95-99. doi: 10.1016/j.ejpn.2024.02.010. Online ahead of print.ABSTRACTThe approval of disease-modifying treatment in spinal muscular atrophy made the condition less severe. The course of the disease changed, but some new concerns occurred with the different new therapies. The side effects of onasemnogene aboparvovec therapy can raise differential diagnostic challenges and necessitate immune therapy, leading to immunosuppression affecting response to vaccines. We provide a pretherapy screening proposal from an infectological point of view separately for newborns treated presymptomaticall...
Source: European Journal of Paediatric Neurology - March 8, 2024 Category: Neurology Authors: Sarolta Dobner Andrea Kulcs ár Zolt án Liptai Zsuzsanna Vojnisek Tam ás Constantin L éna Szabó Source Type: research
Bulbar function in Spinal Muscular Atrophy (SMA): state of art and new challenges
Researchers and industry representatives (USA, Italy, United Kingdom), met to discuss current knowledge on bulbar function in spinal muscular atrophy (SMA). The need for such a meeting was prompted by increasing evidence of changes in clinical phenotypes following the advent of disease modifying therapies and the need to redefine criteria and standards of care for both assessments and management of swallowing function. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - March 8, 2024 Category: Neurology Authors: Katlyn McGrattan, Antonella Cerchiari, Eleanor Conway, Beatrice Berti, Richard Finkel, Francesco Muntoni, Eugenio Mercuri, iSMAc working group Source Type: research
Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy
Researchers and industry representatives (USA, Italy, United Kingdom), met to discuss current knowledge on bulbar function in spinal muscular atrophy (SMA). The need for such a meeting was prompted by increasing evidence of changes in clinical phenotypes following the advent of disease modifying therapies and the need to redefine criteria and standards of care for both assessments and management of swallowing function. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - March 8, 2024 Category: Neurology Authors: Katlyn McGrattan, Antonella Cerchiari, Eleanor Conway, Beatrice Berti, Richard Finkel, Francesco Muntoni, Eugenio Mercuri, on behalf of the iSMAc working group Tags: Workshop report Source Type: research
No significant sex differences in incidence or phenotype for the SMN Δ7 mouse model of spinal muscular atrophy
Spinal Muscular Atrophy (SMA), the leading genetic cause in infant mortality, is an autosomal recessive disease that affects 1 out of every 6,000-10,000 individuals at birth [1,2]. In recent years, there have been three treatments developed and approved by the U.S. Food and Drug Administration that have alleviated symptoms for some SMA patients. These treatments have exhibited short-term efficacy but are highly expensive and even ineffective for some patients. Moreover, the long-term response to these treatments remains inconclusive [3,4]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - March 5, 2024 Category: Neurology Authors: Nicholas C. Cottam, Melissa A. Harrington, Pamela M. Schork, Jianli Sun Tags: Research paper Source Type: research
Spinal Muscular Atrophy Hypotonia Detection Using Artificial Intelligence
This case-control study uses computer vision and artificial intelligence to develop a screening tool for detecting spinal muscular atrophy in infants. (Source: JAMA Pediatrics)
Source: JAMA Pediatrics - March 4, 2024 Category: Pediatrics Source Type: research
Advancing understanding and treatment of spinal muscular atrophy with four SMN2 copies: a critical review
(Source: Journal of Neurology)
Source: Journal of Neurology - March 4, 2024 Category: Neurology Source Type: research
Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey
ConclusionsInfants directly referred to a SMA care center versus a general sample practice were more likely to experience shorter SMA diagnostic journeys and appointment wait times. Triage guidelines for referrals specific to “hypotonia and motor delay” including use of “key emergency words” may shorten wait times and support early diagnosis and treatment of SMA. (Source: Neurology and Therapy)
Source: Neurology and Therapy - March 2, 2024 Category: Neurology Source Type: research
The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review
ConclusionSMN2 copy number is strongly correlated with SMA phenotype in patients with SMN1 deletion, while no correlation was found in patients with an SMN1 mutation. Patients with three SMN2 copies show a highly variable clinical phenotype. Early initiation of treatment is highly effective in presymptomatic patients with three SMN2 copies. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - February 29, 2024 Category: Neurology Source Type: research
Genes, Vol. 15, Pages 314: Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years
We describe our experience of optional NBS for severe PID and SMA in Osaka, Japan. A multiplex TaqMan qPCR assay was used for the optional NBS program. The assay was able to quantify the levels of T-cell receptor excision circles and kappa-deleting recombination excision circles, which is useful for severe combined immunodeficiency and B-cell deficiency screening, and can simultaneously detect the homozygous deletion of SMN1 exon 7, which is useful for NBS for SMA. In total, 105,419 newborns were eligible for the optional NBS program between 1 August 2020 and 31 August 2023. A case each of X-linked agammaglobulinemia and S...
Source: Genes - February 28, 2024 Category: Genetics & Stem Cells Authors: Tomokazu Kimizu Masatoshi Nozaki Yousuke Okada Akihisa Sawada Misaki Morisaki Hiroshi Fujita Akemi Irie Keiko Matsuda Yuiko Hasegawa Eriko Nishi Nobuhiko Okamoto Masanobu Kawai Kohsuke Imai Yasuhiro Suzuki Kazuko Wada Nobuaki Mitsuda Shinobu Ida Tags: Article Source Type: research
Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor
EMBO Mol Med. 2024 Feb 27. doi: 10.1038/s44321-024-00037-x. Online ahead of print.ABSTRACTPhysiological regulation of transgene expression is a major challenge in gene therapy. Onasemnogene abeparvovec (Zolgensma®) is an approved adeno-associated virus (AAV) vector gene therapy for infants with spinal muscular atrophy (SMA), however, adverse events have been observed in both animals and patients following treatment. The construct contains a native human survival motor neuron 1 (hSMN1) transgene driven by a strong, cytomegalovirus enhancer/chicken β-actin (CMVen/CB) promoter providing high, ubiquitous tissue expression of...
Source: Molecular Medicine - February 27, 2024 Category: Molecular Biology Authors: Qing Xie Xiupeng Chen Hong Ma Yunxiang Zhu Yijie Ma Leila Jalinous Gerald F Cox Fiona Weaver Jun Yang Zachary Kennedy Alisha Gruntman Ailing Du Qin Su Ran He Phillip Wl Tai Guangping Gao Jun Xie Source Type: research
hnRNP R regulates mitochondrial movement and membrane potential in axons of motoneurons
Neurobiol Dis. 2024 Feb 24:106454. doi: 10.1016/j.nbd.2024.106454. Online ahead of print.ABSTRACTAxonal mitochondria defects are early events in the pathogenesis of motoneuron disorders such as spinal muscular atrophy and amyotrophic lateral sclerosis. The RNA-binding protein hnRNP R interacts with different motoneuron disease-related proteins such as SMN and TDP-43 and has important roles in axons of motoneurons, including axonal mRNA transport. However, whether hnRNP R also modulates axonal mitochondria is currently unknown. Here, we show that axonal mitochondria exhibit altered function and motility in hnRNP R-deficient...
Source: Neurobiology of Disease - February 26, 2024 Category: Neurology Authors: Sophia Dithmar Abdolhossein Zare Saeede Salehi Michael Briese Michael Sendtner Source Type: research
hnRNP R regulates mitochondrial movement and membrane potential in axons of motoneurons
Neurobiol Dis. 2024 Feb 24:106454. doi: 10.1016/j.nbd.2024.106454. Online ahead of print.ABSTRACTAxonal mitochondria defects are early events in the pathogenesis of motoneuron disorders such as spinal muscular atrophy and amyotrophic lateral sclerosis. The RNA-binding protein hnRNP R interacts with different motoneuron disease-related proteins such as SMN and TDP-43 and has important roles in axons of motoneurons, including axonal mRNA transport. However, whether hnRNP R also modulates axonal mitochondria is currently unknown. Here, we show that axonal mitochondria exhibit altered function and motility in hnRNP R-deficient...
Source: Neurobiology of Disease - February 26, 2024 Category: Neurology Authors: Sophia Dithmar Abdolhossein Zare Saeede Salehi Michael Briese Michael Sendtner Source Type: research
hnRNP R regulates mitochondrial movement and membrane potential in axons of motoneurons
Neurobiol Dis. 2024 Feb 24:106454. doi: 10.1016/j.nbd.2024.106454. Online ahead of print.ABSTRACTAxonal mitochondria defects are early events in the pathogenesis of motoneuron disorders such as spinal muscular atrophy and amyotrophic lateral sclerosis. The RNA-binding protein hnRNP R interacts with different motoneuron disease-related proteins such as SMN and TDP-43 and has important roles in axons of motoneurons, including axonal mRNA transport. However, whether hnRNP R also modulates axonal mitochondria is currently unknown. Here, we show that axonal mitochondria exhibit altered function and motility in hnRNP R-deficient...
Source: Neurobiology of Disease - February 26, 2024 Category: Neurology Authors: Sophia Dithmar Abdolhossein Zare Saeede Salehi Michael Briese Michael Sendtner Source Type: research
hnRNP R regulates mitochondrial movement and membrane potential in axons of motoneurons
Neurobiol Dis. 2024 Feb 24:106454. doi: 10.1016/j.nbd.2024.106454. Online ahead of print.ABSTRACTAxonal mitochondria defects are early events in the pathogenesis of motoneuron disorders such as spinal muscular atrophy and amyotrophic lateral sclerosis. The RNA-binding protein hnRNP R interacts with different motoneuron disease-related proteins such as SMN and TDP-43 and has important roles in axons of motoneurons, including axonal mRNA transport. However, whether hnRNP R also modulates axonal mitochondria is currently unknown. Here, we show that axonal mitochondria exhibit altered function and motility in hnRNP R-deficient...
Source: Neurobiology of Disease - February 26, 2024 Category: Neurology Authors: Sophia Dithmar Abdolhossein Zare Saeede Salehi Michael Briese Michael Sendtner Source Type: research
