A5055684134- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Congenital Anomalies and Fetal Surgery
- Virus-based gene therapy research
- Viral Infections and Immunology Research
- RNA modifications and cancer
- Mechanical Circulatory Support Devices
- Prosthetics and Rehabilitation Robotics
- Tissue Engineering and Regenerative Medicine
- Energy Harvesting in Wireless Networks
- Peripheral Neuropathies and Disorders
- Neonatal Respiratory Health Research
- Viral Infectious Diseases and Gene Expression in Insects
- Inflammatory Myopathies and Dermatomyositis
Washington University in St. Louis
2021-2024
St. Louis Children's Hospital
2020-2024
Spinal muscular atrophy is treated with onasemnogene abeparvovec, which replaces the missing survival motor neuron 1 gene via an adeno-associated virus vector. As of July 1, 2020, we had identified 3 infants who developed thrombotic microangiopathy following abeparvovec. Early recognition and treatment drug-induced may lessen mortality morbidity.
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...
Adeno-associated virus (AAV) vectors are a promising platform for in vivo transfer of transgenes designed to treat diseases. Pre-existing humoral immunity these can potentially impact the safety and efficacy gene therapies. Consequently, individuals with pre-existing antibodies specific AAV serotypes used may be excluded from clinical trials treatments. Recombinant serotype rh74 (rAAVrh74), vector originally isolated rhesus monkeys less immunogenic than other humans (e.g. AAV2, AAV5, AAV9),...
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare, degenerative, recessive X-linked neuromuscular disease. Mutations in the gene encoding dystrophin lead to absence of functional protein. Individuals living with DMD exhibit progressive muscle weakness resulting loss ambulation and limb function, respiratory insufficiency, cardiomyopathy, multiorgan involvement. Adeno-associated virus vector-mediated therapy designed enable production protein new therapeutic strategy. Delandistrogene...
Abstract Introduction This retrospective study reports our tertiary care center's experience with intrathecal nusinersen administration in children and adults spinal muscular atrophy (SMA). Methods We reviewed safety monitoring laboratory results need for procedural sedation fluoroscopy‐guidance all SMA patients receiving between February 2017 March 2020. Results Fifty‐eight ages 1 mo‐ 56 y received 494 doses. There were 166 abnormalities 45 patients. Most either mild (145 [87.3%]) or...
In the United States (U.S.), newborn screening (NBS) for spinal muscular atrophy (SMA) is implemented by individual states. There likely variation in practice patterns of state NBS programs and among providers caring newborns with SMA. This a prospective, descriptive, observational study that seeks to quantify describe heterogeneities provider practices U.S. We surveyed care Thirty states 41 practitioners responded. program vary state. Most (74%) provide results both primary specialist also...
Abstract Introduction/Aims While prompt identification and treatment of infants with spinal muscular atrophy (SMA) can ameliorate outcomes, variability persists. This study assessed management outcomes early‐treated SMA. Methods We analyzed retrospective data at 12 centers on SMA treated age ≤6 weeks from August 2018 to December 2023. Results Sixty‐six patients, 35 two SMN2 copies 31 ≥3 copies, were included. Twenty‐five (38%, 22 copies), had findings before initial which was onasemnogene...