A5068224580- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Genetics and Neurodevelopmental Disorders
- CRISPR and Genetic Engineering
- Epilepsy research and treatment
- Muscle Physiology and Disorders
- Neonatal and fetal brain pathology
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- RNA Interference and Gene Delivery
- Hemophilia Treatment and Research
- Cancer-related gene regulation
- Neonatal Respiratory Health Research
- Family and Disability Support Research
- Infectious Encephalopathies and Encephalitis
- Prosthetics and Rehabilitation Robotics
- Mitochondrial Function and Pathology
- Fetal and Pediatric Neurological Disorders
- Myasthenia Gravis and Thymoma
- Parkinson's Disease and Spinal Disorders
- Peripheral Neuropathies and Disorders
- Platelet Disorders and Treatments
- Diet and metabolism studies
- Neurological and metabolic disorders
Helen DeVos Children's Hospital
2019-2024
Corewell Health
2024
Michigan State University
2024
Indiana University
2024
National Institutes of Health
2024
The Ohio State University Wexner Medical Center
2024
Lurie Children's Hospital
2015
Northwestern University
2015
Abstract 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 life. Here, we report final results 14 two copies SMN2 , expected develop spinal muscular atrophy (SMA) type 1. Efficacy compared matched Pediatric Neuromuscular Clinical Research natural-history cohort n = 23). All enrolled infants sat independently ≥30 seconds any visit...
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 safety of onasemnogene abeparvovec for presymptomatic mutations treated within six postnatal weeks. Of 15 before symptom onset, all stood independently 24 months (P < 0.0001; 14 normal developmental window), walked 11 window). All survived without permanent ventilation at months; ten (67%)...
Background and purpose At 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated both an improved motor function patients Type or 3 spinal muscular atrophy (SMA) a favorable safety profile. This manuscript reports extended efficacy nonambulatory group of study at 36 months. Methods Patients who completed primary (NCT03921528) could enroll open-label extension, during which received 20 mg/kg by intravenous infusion every 4 weeks. were assessed periodically via...
Duchenne muscular dystrophy (DMD) is a rare, X-linked, progressive, degenerative muscle disease due to pathogenic variants in the DMD gene resulting absence of functional dystrophin protein.1 Patients with have irreversible damage that begins at birth, and there histologic evidence progression progressive inflammation fibrosis within first years life.2 Proactive interdisciplinary care, corticosteroids, advances disease-modifying treatments changed trajectory disease, leading slower improving...
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by biallelic variants of the
This study evaluates safety and efficacy of onasemnogene abeparvovec-xioi (formerly AVXS-101), a survival motor neuron gene (SMN)–replacement therapy, in presymptomatic SMA patients.
Evaluate the safety/efficacy of onasemnogene abeparvovec (formerly AVXS-101) in presymptomatic SMA patients with 2 copies survival motor neuron gene (SMN2).
Intracranial hemorrhage accounts for about 50% of all pediatric stroke. Studies term infants with intracranial have shown favorable motor and cognitive outcome. The goal this study was to examine the risk developing epilepsy in full-term hemorrhage. A retrospective performed neonates (greater than or equal 37 weeks gestation) confirmed seizures. Fifteen patients neonatal seizures were identified. Four did not follow-up information beyond period (1 death, 3 lost after initial clinic visit)....
Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report case 8-year-old boy who presented with month-long history waxing and waning encephalopathy acute regression, followed seizures. Evaluation for disorder revealed methylmalonic acidemia hyperhomocysteinemia the cobalamin C type due to single, presumed homozygous pathogenic c.394 C>T mutation MMACHC gene. With appropriate diet...
Investigators from the University of California, San Francisco and Kaiser Permanente report incidence Dravet Syndrome in a population based cohort.
Investigators from The Barrow Neurological Institute, Creighton University, University of Kentucky and the Calgary Faculty Medicine investigated effect ketone bodies ketogenic diet on epileptic Kcna1-null mice.
Evaluate the safety/efficacy of onasemnogene abeparvovec (formerly AVXS-101) in presymptomatic SMA patients with 3 copies survival motor neuron 2 gene (SMN2).
Background: Variants within factor VIII (F8) are associated with sex-linked hemophilia A and thrombosis, gene therapy approaches being available for pathogenic variants. Many variants F8 remain of uncertain significance (VUS) or under-explored as to their connections phenotypic outcomes. Methods: We assessed data on expression while screening the UniProt, ClinVar, Geno2MP, gnomAD databases missense variants; these collectively represent sequencing more than a million individuals. Results:...
The Phase III SPR1NT study investigated the efficacy and safety of onasemnogene abeparvovec in presymptomatic patients at risk spinal muscular atrophy type 1 (SMA1).
Investigators from the Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago IL Yale School Medicine, New Haven, CT have conducted a prospective cohort study 613 children with newly diagnosed epilepsy to evaluate occurrence complete remission predictive factors. Of patients recruited, 516 were followed for greater than 10 years those, 328 (63.5%) attained remission.
Background Onasemnogene abeparvovec (AVXS-101) is a gene-replacement therapy that treats the genetic root cause of SMA, biallelic survival motor neuron 1 gene ( SMN1 ) deletion/mutation. In phase study, AVXS-101 improved and function symptomatic SMA type patients. SPR1NT NCT03505099 ), being evaluated in presymptomatic newborns with SMA. Methods multicenter, open-label, 3 study enrolling ≥27 patients 2x SMN2 or 3x . Asymptomatic infants aged ≤6 weeks receive one-time, intravenous infusion....
SPR1NT (NCT03505099) was a multicenter, open-label, Phase III study to evaluate the safety and efficacy of onasemnogene abeparvovec in presymptomatic SMA patients with three copies survival motor neuron 2 gene (SMN2).