Nancy L. Kuntz
A5016330600- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Peripheral Neuropathies and Disorders
- Multiple Sclerosis Research Studies
- Congenital Anomalies and Fetal Surgery
- Hereditary Neurological Disorders
- Children's Physical and Motor Development
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Myasthenia Gravis and Thymoma
- Cardiovascular Syncope and Autonomic Disorders
- Exercise and Physiological Responses
- Muscle activation and electromyography studies
- Neuroscience of respiration and sleep
- Ubiquitin and proteasome pathways
- Neonatal Respiratory Health Research
- Cellular transport and secretion
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Vitamin D Research Studies
- Autoimmune and Inflammatory Disorders Research
- Genomics and Rare Diseases
- RNA Research and Splicing
- Parkinson's Disease and Spinal Disorders
Lurie Children's Hospital
2016-2025
Northwestern University
2013-2024
Arkansas Children's Hospital
2024
University of Arkansas for Medical Sciences
2024
Cure Spinal Muscular Atrophy
2024
Duke University
2019-2024
Newcastle University
2024
Carleton University
2024
University of Miami
2016-2020
Beth Israel Deaconess Medical Center
2020
Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that caused by insufficient level of survival motor neuron (SMN) protein. Nusinersen antisense oligonucleotide drug modifies pre–messenger RNA splicing the SMN2 gene and thus promotes increased production full-length SMN
Nusinersen is an antisense oligonucleotide drug that modulates pre–messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for treatment spinal muscular atrophy (SMA).
Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2. Clinical trials this population require an understanding disease progression and identification meaningful biomarkers to hasten therapeutic development predict outcomes. Methods A longitudinal, multicenter, prospective natural history study enrolled 26 SMA infants 27 control aged <6 months. Recruitment occurred at 14 centers over 21...
<b>Background: </b> In adult patients, autoantibodies targeting the water channel aquaporin-4 (AQP4) are a biomarker for spectrum of CNS inflammatory demyelinating disorders with predilection optic nerves and spinal cord (neuromyelitis optica [NMO]). Here we describe neurologic, serologic, radiographic findings associated AQP4 autoimmunity in childhood. <b>Methods: A total 88 consecutive seropositive children were identified through service evaluation NMO-IgG. Sera 75 tested coexisting...
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in spinal cord, leading to atrophy. SMA caused deletions or mutations survival neuron 1 gene (SMN1). In humans, a nearly identical copy gene, SMN2, present. Because SMN2 has been shown decrease severity dose-dependent manner, number predictive severity.To develop treatment algorithm for SMA-positive infants identified through newborn screening based upon number.A working...
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene resulting absence of dystrophin. Casimersen a phosphorodiamidate morpholino oligomer designed to bypass frameshift and produce internally truncated, yet functional, dystrophin protein patients amenable exon 45 skipping. Our primary study objective was evaluate safety tolerability casimersen; secondary characterize plasma pharmacokinetics.This multicenter, phase 1/2 trial enrolled 12 participants (aged 7-21 years, who...
Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen dosage.To compare efficacy adverse effects of 3 most frequently prescribed corticosteroid regimens dystrophy.Double-blind, parallel-group randomized clinical trial including 196 aged 4 to 7 years dystrophy who had not previously been treated corticosteroids; enrollment occurred between January 30, 2013, September 17, 2016, at 32 clinic sites 5...
Abstract Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen in children (two SMN2 copies, n = 15; three 10) who initiated treatment the presymptomatic stage spinal muscular atrophy (SMA). A prior analysis after ~3 y showed benefits on survival, respiratory outcomes, motor milestone achievement, and a favorable safety profile. An additional 2 follow‐up (data cut: February 15, 2021) are reported. Methods The primary endpoint time to death or intervention (≥6 h/day...
BackgroundX-linked myotubular myopathy is a rare, life-threatening, congenital muscle disease observed mostly in males, which caused by mutations MTM1. No therapies are approved for this disease. We aimed to assess the safety and efficacy of resamirigene bilparvovec, an adeno-associated viral vector serotype 8 delivering human MTM1.MethodsASPIRO open-label, dose-escalation trial at seven academic medical centres Canada, France, Germany, USA. included boys younger than 5 years with X-linked...
Vamorolone is a dissociative agonist of the glucocorticoid receptor that has shown similar efficacy and reduced safety concerns in comparison with prednisone Duchenne muscular dystrophy (DMD). This study was conducted to determine vamorolone over 48 weeks crossover participants (prednisone vamorolone; placebo vamorolone).
Because common viruses are encountered during childhood, pediatric multiple sclerosis (MS) offers a unique opportunity to investigate the influence of these on disease susceptibility and interactions between seroprevalence select HLA genotypes. We studied for Epstein-Barr virus (EBV), cytomegalovirus (CMV), herpes simplex (HSV) type 1 HLA-DRB1*1501/1503 status as predictors MS.This was retrospective analysis prospectively collected demographic, clinical, biologic data in subjects up 18 years...
The natural history of intraneural perineurioma has been inadequately studied. aim this study was to characterize the clinical presentation, electrophysiologic and imaging features outcome perineurioma. We ask if is a pure motor syndrome that remains confined one nerve should be treated by surgical resection. examined biopsies cases labelled selected those with diagnostic features. Thirty-two patients were identified; 16 children adults; males females. Median age onset neurological symptoms...
<b>Background:</b> The clinical and MRI presentation differs between earlier- later-onset pediatric multiple sclerosis (MS), whereas the effect of age on CSF inflammatory profile is unknown may contribute to delayed diagnosis. <b>Objectives:</b> To compare cellular immunoglobulin G (IgG) profiles MS. <b>Methods:</b> We queried databases 6 MS centers for earlier-onset (onset <11 years) (≥11 <18 patients with or clinically isolated syndrome who underwent analysis within first 3 months...
This study prospectively assessed putative promising biomarkers for use in assessing infants with spinal muscular atrophy (SMA).This prospective, multi-center natural history targeted the enrollment of SMA and healthy control less than 6 months age. Recruitment occurred at 14 centers within NINDS National Network Excellence Neuroscience Clinical Trials (NeuroNEXT) Network. Infant motor function scales electrophysiological, protein molecular were baseline subsequent visits.Enrollment began...
We describe changes in pulmonary function measures across time Duchenne muscular dystrophy patients treated with glucocorticoids (GCs) > 1 year compared to GC naïve the Cooperative International Research Group Natural History Study, a multicenter prospective cohort study. 397 participants underwent 2799 assessments over period up 10 years. Fifty-three (< month exposure) were 322 subjects cumulative treatment. Forced vital capacity (FVC), peak expiratory flow rate (PEFr), maximal inspiratory...
We report a first-in-patient study of vamorolone, first-in-class dissociative steroidal anti-inflammatory drug, in Duchenne muscular dystrophy. This 2-week, open-label Phase IIa multiple ascending dose (0.25, 0.75, 2.0, and 6.0 mg/kg/day) enrolled 48 boys with dystrophy (4 to <7 years), outcomes including clinical safety, pharmacokinetics pharmacodynamic biomarkers. The design included biomarkers three contexts use: 1. Secondary for safety (insulin resistance, adrenal suppression, bone...
<h3>Objective</h3> To study vamorolone, a first-in-class steroidal anti-inflammatory drug, in Duchenne muscular dystrophy (DMD). <h3>Methods</h3> An open-label, multiple-ascending-dose of vamorolone was conducted 48 boys with DMD (age 4–<7 years, steroid-naive). Dose levels were 0.25, 0.75, 2.0, and 6.0 mg/kg/d an oral suspension formulation (12 per dose level; one-third to 10 times the glucocorticoid DMD). The primary goal define optimal doses vamorolone. outcome for clinical efficacy...