Kayoko Saito
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View article: Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment
Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment Open
Median SMN protein levels increased significantly after one month of risdiplam administration with some fluctuations. After five months of treatment, motor function, CMAP, and SMAIS-ULM caregiver scores improved. SMN protein is an appropri…
View article: Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study
Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study Open
This 12-month interim analysis of PMS data indicated that risdiplam was well tolerated among Japanese patients with SMA, consistent with previous clinical trial findings. A comprehensive evaluation of the safety and efficacy of risdiplam w…
View article: Symposium 3 “Improving the Voice：Voice Enhancement Surgery” -Introduction
Symposium 3 “Improving the Voice：Voice Enhancement Surgery” -Introduction Open
View article: Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development
Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development Open
Background Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disease caused by insufficient functional survival motor neuron protein (SMN). The SMN expression level in the spinal cord is highest during the 2nd trimester of th…
View article: Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study
Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study Open
View article: New species of fossil butterfly (Nymphalidae: Limenitidinae) from the Upper Pliocene to Lower Pleistocene Teragi Group, Hyogo Prefecture, Japan
New species of fossil butterfly (Nymphalidae: Limenitidinae) from the Upper Pliocene to Lower Pleistocene Teragi Group, Hyogo Prefecture, Japan Open
View article: Syneresis‐Driven Self‐Refilling Printing of Geometry/Component‐Controlled Nano/Microstructures
Syneresis‐Driven Self‐Refilling Printing of Geometry/Component‐Controlled Nano/Microstructures Open
Nano/microfabrication is of fundamental importance both in scientific and industrial situations. There are, therefore, many attempts at realizing easier, quicker, and more precise fabrication of various structures; however, achieving this …
View article: Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec Open
View article: Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry Open
Background: Long-term, real-world effectiveness and safety data of disease-modifying treatments for spinal muscular atrophy (SMA) are important for assessing outcomes and providing information for a larger number and broader range of SMA p…
View article: Life-Saving Treatments for Spinal Muscular Atrophy
Life-Saving Treatments for Spinal Muscular Atrophy Open
Overall, this survey highlights the global inequality in managing patients with SMA. The spread of newborn screening is essential in ensuring improved access to care for patients with SMA. With the advancement of neurotherapeutics, more ge…
View article: Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification
Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification Open
We sought to devise a rational, systematic approach for defining/grouping survival motor neuron ‐targeted disease‐modifying treatment (DMT) scenarios. The proposed classification is primarily based on a two‐part differentiation: initial DM…
View article: CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis Open
View article: C.2 SUNFISH parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA)
C.2 SUNFISH parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA) Open
Background: SMA affects individuals with a broad age range and spectrum of disease severity. Risdiplam (EVRYSDI®) is a centrally and peripherally distributed, oral SMN2 pre-mRNA splicing modifier. Methods: SUNFISH is a multicenter, two-par…
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View article: Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA) Open
View article: Replication stress increases mitochondrial metabolism and mitophagy in FANCD2 deficient fetal liver hematopoietic stem cells
Replication stress increases mitochondrial metabolism and mitophagy in FANCD2 deficient fetal liver hematopoietic stem cells Open
Fanconi Anemia (FA) is an inherited bone marrow (BM) failure disorder commonly diagnosed during school age. However, in murine models, disrupted function of FA genes leads to a much earlier decline in fetal liver hematopoietic stem cell (F…
View article: Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA) Open
Risdiplam is an oral, survival of motor neuron 2 ( SMN2 ) pre-mRNA splicing modifier approved for the treatment of spinal muscular atrophy (SMA). SUNFISH (NCT02908685) Part 2, a Phase 3, randomized, double-blind, placebo-controlled study, …
View article: Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study Open
View article: Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals
Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals Open
Background The 5p- syndrome is associated with intellectual disturbance and physical complications from infancy, and patients continue treatment into adulthood. This study aimed to clarify the factors that facilitate and prevent healthcare…
View article: Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial Open
Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT ( NCT03505099 ), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abepar…
View article: Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial Open
SPR1NT ( NCT03505099 ) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated at ≤6 weeks of life. Here, we report…
View article: Effective Valproic Acid Treatment in Motor Function Is Caused by Possible Mechanism of Elevated Survival Motor Neuron Protein Related With Splicing Factor Gene Expression in Spinal Muscular Atrophy
Effective Valproic Acid Treatment in Motor Function Is Caused by Possible Mechanism of Elevated Survival Motor Neuron Protein Related With Splicing Factor Gene Expression in Spinal Muscular Atrophy Open
Background: Spinal muscular atrophy (SMA) is a lower motor neuron disease caused by SMN1. Several clinical trials have indicated that valproic acid (VPA) benefits a limited number of SMA patients. To clarify the difference in VPA responsiv…
View article: Singing Is a Risk Factor for Severe Acute Respiratory Syndrome Coronavirus 2 Infection: A Case-Control Study of Karaoke-Related Coronavirus Disease 2019 Outbreaks in 2 Cities in Hokkaido, Japan, Linked by Whole Genome Analysis
Singing Is a Risk Factor for Severe Acute Respiratory Syndrome Coronavirus 2 Infection: A Case-Control Study of Karaoke-Related Coronavirus Disease 2019 Outbreaks in 2 Cities in Hokkaido, Japan, Linked by Whole Genome Analysis Open
Background Singing in an indoor space may increase the risk of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. We conducted a case-control study of karaoke-related coronavirus disease 2019 (COVID-19) outbreaks to re…
View article: Precision cancer genome testing needs proficiency testing involving all stakeholders
Precision cancer genome testing needs proficiency testing involving all stakeholders Open
View article: Successful endoscopic removal of a partially covered self-expandable metallic stent that had migrated to the oral side of the tumor
Successful endoscopic removal of a partially covered self-expandable metallic stent that had migrated to the oral side of the tumor Open
An 83-year-old man with vomiting visited our hospital. Computed tomography revealed wall thickening of the descending colon and dilated proximal colon. Colonoscopy revealed obstructive descending colon cancer (CROSS 0, cT3N0M0 cStage IIa).…
View article: An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium
An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium Open
Background: Patient registries play an important role in rare disease, particularly for recruitment of clinical trials and clinical research. Methods: In 2012, we launched a registry for the purpose of clarifying the clinical characteristi…
View article: A Pilot Proficiency Testing Study for Assessing Cancer Gene Panel using Patient Samples and Next-generation Sequencing in Japan
A Pilot Proficiency Testing Study for Assessing Cancer Gene Panel using Patient Samples and Next-generation Sequencing in Japan Open
To implement precision oncology, analytical validity as well as clinical validity and utility are important. However, proficiency testing (PT) to assess validity has not yet been systematically performed in Japan. To investigate the qualit…
View article: Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan Open
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor neurons. The severe form of SMA is among the genetic diseases with the …
View article: High attack rate of SARS-CoV-2 infections during a bus tour in Japan
High attack rate of SARS-CoV-2 infections during a bus tour in Japan Open
View article: Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)
Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001) Open