A5035271470- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Cerebral Palsy and Movement Disorders
- Virus-based gene therapy research
- RNA modifications and cancer
- CAR-T cell therapy research
- CRISPR and Genetic Engineering
- Prosthetics and Rehabilitation Robotics
- Cardiomyopathy and Myosin Studies
- Diabetic Foot Ulcer Assessment and Management
- Genetic Neurodegenerative Diseases
- Congenital Anomalies and Fetal Surgery
- Children's Physical and Motor Development
- Gait Recognition and Analysis
- Tissue Engineering and Regenerative Medicine
- Muscle activation and electromyography studies
- Genomics and Rare Diseases
- Biomedical Ethics and Regulation
- Family and Disability Support Research
- Structural Engineering and Vibration Analysis
- Infant Development and Preterm Care
- Effects of Vibration on Health
- Viral Infections and Immunology Research
- Congenital Heart Disease Studies
- GDF15 and Related Biomarkers
Nationwide Children's Hospital
2018-2025
The Ohio State University
2022
Gene Therapy Laboratory
2020
Micro-dystrophin gene transfer shows promise for treating patients with Duchenne muscular dystrophy (DMD) using recombinant adeno-associated virus serotype rh74 (rAAVrh74) and codon-optimized human micro-dystrophin driven by a skeletal cardiac muscle-specific promoter enhanced expression (MHCK7).To identify the 1-year safety tolerability of intravenous rAAVrh74.MHCK7.micro-dystrophin in DMD.This open-label, phase 1/2a nonrandomized controlled trial was conducted at Nationwide Children's...
This ongoing study assesses long-term safety and durability of response in infants with spinal muscular atrophy (SMA) type 1 after dosing onasemnogene abeparvovec gene replacement therapy.The primary objective this is to assess safety. The secondary determine whether developmental milestones achieved the START phase clinical trial were maintained new gained.This an ongoing, observational, follow-up for continuous monitoring 15 years patients from I (conducted May 5, 2014, through December...
Introduction: Delandistrogene moxeparvovec (SRP-9001) is an investigational gene transfer therapy designed for targeted expression of SRP-9001 dystrophin protein, a shortened retaining key functional domains the wild-type protein. Methods: This Phase 2, double-blind, two-part (48 weeks per part) crossover study (SRP-9001-102 [Study 102]; NCT03769116) evaluated delandistrogene in patients, aged ≥4 to <8 years with Duchenne muscular dystrophy. Primary endpoints (Part 1) were change from...
BACKGROUND AND OBJECTIVES: Historically, autosomal recessive 5q-linked spinal muscular atrophy (SMA) has been the leading inherited cause of infant death. SMA is caused by absence SMN1 gene, and gene replacement therapy, onasemnogene abeparvovec-xioi, was Food Drug Administration approved in May 2019. Approval included all children with age &lt;2 years without end-stage weakness. However, transfer abeparvovec-xioi only studied ≤8 months. METHODS: In this article, we report key safety...
Delandistrogene moxeparvovec is indicated in the United States for treatment of ambulatory pediatric patients aged 4 through 5 years with Duchenne muscular dystrophy (DMD) a confirmed mutation DMD gene. Long-term delandistrogene microdystrophin protein (a shortened dystrophin that retains key functional domains wild-type protein) expression may positively alter disease progression DMD. We evaluated long-term safety and outcomes DMD.An open-label, phase 1/2a, nonrandomized controlled trial...
Abstract Limb-girdle muscular dystrophy 2E/R4 is caused by mutations in the β-sarcoglycan ( SGCB ) gene, leading to deficiency and consequent muscle loss. We developed a gene therapy approach based on functional replacement of deficient SCB protein. Here we report interim results from first-in-human, open-label, nonrandomized, phase 1/2 trial evaluating safety efficacy bidridistrogene xeboparvovec, an adeno-associated virus-based containing codon-optimized, full-length human transgene....
Abstract Muscular dystrophies (MD) are a group of genetic neuromuscular disorders that cause progressive weakness and loss muscles over time, influencing 1 in 3500–5000 children worldwide. New exciting treatment options have led to critical need for clinical post-marketing surveillance tool confirm the efficacy safety these treatments after individuals receive them commercial setting. For MDs, functional gait assessment is common approach evaluate because muscle reflected individuals’...
Single exon duplications account for disease in a minority of Duchenne muscular dystrophy patients. Exon skipping these patients has the potential to be highly therapeutic through restoration full-length dystrophin expression. We conducted 48-week open label study casimersen and golodirsen 3 subjects with an 45 or 53 duplication. Two (aged 18 23 years) were non-ambulatory at baseline. Upper limb, pulmonary, cardiac function appeared stable 2 whom they could evaluated. Dystrophin expression...
ABSTRACT Background Nusinersen and risdiplam are U.S. Food Drug Administration (FDA)‐approved treatments for spinal muscular atrophy (SMA). No head‐to‐head clinical trials to assess efficacy exist. Observational studies needed determine if transitioning is safe efficacious. Methods This retrospective study at Nationwide Children's Hospital included individuals with SMA treated nusinersen who switched risdiplam. Motor, pulmonary bulbar function were assessed before 2 years after initiation....
This paper presents a structure- and sampling-adaptive approach for analyzing human footstep-induced structural floor vibrations to estimate footstep ground reaction forces (GRFs) gait balance symmetry. Balance symmetry GRFs are critical indicators of overall health elderly fall risks. Prior works, including direct observation by trained medical personnel, computer vision-, pressure sensor-, wearable-based sensing, limited due operational restrictions. We introduce nonintrusive monitoring...
In a phase 1/2, open-label dose escalation trial, we delivered rAAVrh74.MCK.GALGT2 (also B4GALNT2) bilaterally to the legs of two boys with Duchenne muscular dystrophy using intravascular limb infusion. Subject 1 (age 8.9 years at dosing) received 2.5 × 1013 vector genome (vg)/kg per leg (5 vg/kg total) and subject 2 6.9 5 (1 1014 total). No serious adverse events were observed. Muscle biopsy evaluated 3 or 4 months post treatment versus baseline showed evidence GALGT2 gene expression...
We introduce a footstep-induced floor vibration sensing system that enables us to quantify the gait pattern of individuals with Muscular Dystrophy (MD) in non-clinical settings. MD is neuromuscular disorder causing progressive loss muscle, which leads symptoms patterns such as toe-walking, frequent falls, balance difficulty, etc. Existing systems are used for tracking include pressure mats, wearable devices, or direct observation by healthcare professionals. However, they limited operational...
This single-arm prospective cohort study aimed to evaluate the feasibility and utility of in-home body weight support harness system (BWSS) use in children treated for spinal muscular atrophy (SMA).
The North Star Assessment for limb-girdle type muscular dystrophies (NSAD), a clinician-reported outcome measure (ClinRO) of motor performance, was initially developed and validated use in dysferlinopathy, an autosomal recessive form dystrophy (LGMD R2/2B). Recent developments treatments (LGMD) have highlighted the urgent need disease-specific ClinROs. purpose this study to understand ability NSAD quantify function across broad spectrum LGMD phenotypes.Assessments 130 individuals with...
Conducting functional assessments remotely can help alleviate the burden of in-person assessment on patients with Duchenne muscular dystrophy and their caregivers. The objective this study was to evaluate whether scores from remote correspond same assessments. Remote live stream versus North Star Ambulatory Assessment (including time [seconds] complete 10-meter walk/run rise floor [supine stand]) were assessed using statistical analyses, including intraclass correlation coefficient, Pearson,...
Aim To evaluate the utility of Ability Captured Through Interactive Video Evaluation ( ACTIVE ) scaled scores to quantify meaningful change in individuals with spinal muscular atrophy SMA types 2 or 3 due disease progression treatment. Method is a custom‐designed video game that measures workspace volume WSV ). Participants included 62 (mean age [ SD ] 10y 9mo [5y], range 2y 9mo–24y) and 362 frequency‐matched controls [3y 6mo], 3y 2mo–24y 9mo). completed , other traditional assessments,...
<h3>Objective:</h3> To evaluate safety and efficacy of delandistrogene moxeparvovec (SRP-9001), compared with placebo, in patients Duchenne muscular dystrophy (DMD) aged ≥4 to <8 years. <h3>Background:</h3> Delandistrogene is an investigational gene transfer therapy developed address the root cause DMD through targeted skeletal cardiac muscle expression SRP-9001 dystrophin, which contains key functional domains dystrophin. <h3>Design/Methods:</h3> Study 102 (NCT03769116; N=41) a Phase 2...
<title>Abstract</title> Muscular dystrophies (MD) are a group of genetic neuromuscular disorders that cause progressive weakness and loss muscles over time, influencing 1 in 3500 to 5000 children worldwide. New exciting treatment options have led critical need for clinical post-marketing surveillance tool confirm the efficacy safety these treatments after individuals receive them commercial setting. For MDs, functional gait assessment is common approach evaluate because muscle reflected...
Background Patients with Duchenne muscular dystrophy (DMD) adopt compensatory movement patterns as muscles weaken. The Video Assessment (DVA) measures patient ease of through identification patterns. DVA directs caregivers to video record patients performing specific tasks at home using a secure mobile application, and DVA-certified physical therapists (PTs) score the videos scorecards prespecified criteria. goal this study was develop refine scorecards. Methods To initial scorecards, 4 PTs...
Report long-term follow-up study design and data from the phase 1 of onasemnogene abeparvovec (AVXS-101) in SMA1.