A5052534937- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Virus-based gene therapy research
- CAR-T cell therapy research
- Tissue Engineering and Regenerative Medicine
- Cardiomyopathy and Myosin Studies
- Viral Infections and Immunology Research
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- RNA Interference and Gene Delivery
- Immunodeficiency and Autoimmune Disorders
- Congenital Anomalies and Fetal Surgery
- Immunotherapy and Immune Responses
- Cancer-related gene regulation
- Prosthetics and Rehabilitation Robotics
- Biomedical Ethics and Regulation
- Spaceflight effects on biology
- GDF15 and Related Biomarkers
- CRISPR and Genetic Engineering
- Mitochondrial Function and Pathology
- Infant Nutrition and Health
- Congenital heart defects research
- Parvovirus B19 Infection Studies
- Medical and Biological Ozone Research
- Blood disorders and treatments
Nationwide Children's Hospital
2018-2024
The Ohio State University Wexner Medical Center
2014-2022
The Ohio State University
2018-2020
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...
Abstract Background Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent‐ventilation by 13.6 months. This study assessed the health outcomes infants treated with AVXS‐101 gene replacement therapy. Methods Twelve genetically confirmed homozygous deletions SMN1 and two SMN2 copies received one‐time intravenous proposed therapeutic dose in an open label conducted between December 2014 2017. Patients were followed for...
BackgroundThis study characterizes motor function responses after early dosing of AVXS-101 (onasemnogene abeparvovec) in gene replacement therapy infants with severe spinal muscular atrophy type 1 (SMA1).MethodsThis is a follow-up analysis 12 SMA1 who received the proposed therapeutic dose Phase open-label (NCT02122952). Infants were grouped according to age at and baseline Children's Hospital Philadelphia Infant Test Neuromuscular Disorders scores: (1) dosing/low motor, dosed less than...
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...
Delandistrogene moxeparvovec is approved in the USA for treatment of ambulatory patients (4-5 years) with Duchenne muscular dystrophy. ENDEAVOR (SRP-9001-103; NCT04626674) a single-arm, open-label study to evaluate delandistrogene micro-dystrophin expression, safety, and functional outcomes following administration commercial process moxeparvovec.In cohort 1 (N = 20), eligible males, aged ≥4 <8 years, received single intravenous infusion (1.33 × 1014 vg/kg). The primary endpoint was change...
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....
In a previous limb-girdle muscular dystrophy type 2D (LGMD2D) clinical trial, robust alpha-sarcoglycan gene expression was confirmed following intramuscular (
The objective of this study is to describe the effects antepartum therapy for fetal alloimmune thrombocytopenia (FAIT) on lifestyle. With goal preventing intraventricular hemorrhage in all fetuses without cordocentesis measure platelets, empiric treatment with intravenous immune globulin (IVIG), or prednisone, recommended. It hypothesized that these treatments negatively affect women's This information needed pre-conceptual counseling and developing management strategies.A survey was mailed...
Objectives: To study neonatal outcomes following buprenorphine/naloxone and methadone exposure during pregnancy. Methods: This is a retrospective review of clinical demographic information 58 infants whose mothers were treated with 92 for opioid dependence Results: Gestational age, birth weight, prematurity, admission to intensive care unit, length stay similar between both groups infants. Neonatal abstinence syndrome occurred less frequently among than those (64% 80%, respectively, p =...
<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...
Introduction: The protective effects of breastfeeding against developing breast cancer are well known; however, it is unknown whether women aware this benefit. Research Aim/Questions: aim investigation was to determine mothers received information about risk reduction during counseling and knowledge affected their decision initiate sustain breastfeeding. Materials Methods: survey conducted at Ohio State University Comprehensive Cancer Center with aged 18-50 who had least one live birth....
The health-related quality of life and emotional distress among mothers sons with Duchenne or Becker muscular dystrophies (n = 82) were compared to sex- age group–matched controls 26). Participants self-reported for themselves their son(s), distress, mood/anxiety-related medication. Mothers reported poorer across all domains life, as well higher levels distress. Clinically elevated symptoms anxiety by 39% mothers. Mothers’ report son(s) was a significant predictor worse most domains....
Report long-term follow-up study design and data from the phase 1 of onasemnogene abeparvovec (AVXS-101) in SMA1.
<h3>Objective:</h3> To evaluate long-term safety and functional outcomes 4 years post-treatment with delandistrogene moxeparvovec (SRP-9001) in Study 101 (NCT03375164): a Phase 1/2a, single-dose, open-label clinical trial. <h3>Background:</h3> Delandistrogene is an investigational gene transfer therapy developed to address the root cause of Duchenne muscular dystrophy (DMD) through targeted skeletal cardiac muscle expression SRP-9001 dystrophin protein, which contains key domains dystrophin....
To evaluate long-term safety and efficacy of onasemnogene abeparvovec-xioi (formerly AVXS-101).
Research Question: SMA1 is a rapidly progressing disease caused by biallelic survival motor neuron 1 gene (SMN1) deletion/mutation, resulting in death/permanent ventilation 2 years of age. Onasemnogene abeparvovec (AVXS-101), one-time SMN gene-replacement therapy, addresses the genetic root cause SMA and designed for immediate, sustained protein expression neurons. In phase 1/2a trial (CL-101; NCT02122952), 15 patients received intravenous (IV) AVXS-101 infusion at low dose (Cohort 1, n = 3)...