A5076681315- Myasthenia Gravis and Thymoma
- Peripheral Neuropathies and Disorders
- Neurogenetic and Muscular Disorders Research
- Neuroblastoma Research and Treatments
- Monoclonal and Polyclonal Antibodies Research
- Antifungal resistance and susceptibility
- Parkinson's Disease and Spinal Disorders
- Hereditary Neurological Disorders
- CAR-T cell therapy research
- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- CRISPR and Genetic Engineering
- Immunotherapy and Immune Responses
- Autoimmune Neurological Disorders and Treatments
- RNA modifications and cancer
- RNA Research and Splicing
- T-cell and B-cell Immunology
- Cancer Immunotherapy and Biomarkers
- Inflammatory Myopathies and Dermatomyositis
- Amyotrophic Lateral Sclerosis Research
- Ion channel regulation and function
- Pluripotent Stem Cells Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Pain Mechanisms and Treatments
- Cancer Treatment and Pharmacology
University of Illinois Chicago
2006-2023
Novartis (United States)
2013-2023
Molecular Cardiology and Neuromuscular Institute
2023
Baxalta (United States)
2018-2021
Novartis (Germany)
2021
Novartis Gene Therapies, Inc. (United States)
2021
Rush University Medical Center
1997-2018
Sorbonne Université
2018
National Institute of Arthritis and Musculoskeletal and Skin Diseases
2018
National Institutes of Health
2018
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...
The recommendations for clinical research standards published in 2000 by a task force of the Medical Scientific Advisory Board (MSAB) Myasthenia Gravis Foundation America (MGFA) were largely successful introducing greater uniformity recording and reporting MG trials. Recognizing that changes trial design implementation may increase likelihood new therapies are developed MG, MGFA MSAB Task Force here presents updated trials including (a) use quantitative measure, such as MG-Composite, is...
<h3>Objective</h3> To determine the prevalence and clinical features of anti-HMGCR myopathy among patients with presumed limb-girdle muscular dystrophy (LGMD) in whom genetic testing has failed to elucidate causative mutations. <h3>Methods</h3> Patients LGMD unrevealing were selected based on a few clinico-pathologic tested for autoantibodies (n = 11). These are peak creatine kinase (CK) greater than 1,000 IU/L at least 3 following features: (1) pattern weakness, (2) selective involvement...
The authors report a retrospective analysis of the use mycophenolate mofetil (MyM) in 85 patients with autoimmune myasthenia gravis. Myasthenia Gravis Foundation America (MGFA) postintervention status (PIS) was used to characterize treatment response each patient. Sixty-two (73%) achieved PIS indicating improvement. Quantitative strength testing performed on majority before and after also improved. Side effects MyM were observed 27% but required discontinuation only 6%.
A bstract : Mycophenolate mofetil (MM) is an immunosuppressive agent developed and originally used to prevent acute rejection of solid‐organ transplantation. There have been preliminary reports its successful use in the treatment autoimmune myasthenia gravis (MG). We conducted a double‐blind, placebo‐controlled pilot trial MM suboptimally controlled, stable MG. Results this study are promising suggestive greater improvement patients who received compared placebo.
The authors report 10 patients with idiopathic dermatomyositis treated mycophenolate mofetil in combination corticosteroids. Successful steroid taper without disease relapse was achieved six patients; however, three patients, treatment associated opportunistic infections, leading to death one patient. disproportionately high rate of infections this group is considered.
Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital (L-CMD), and limb-girdle type 1B (LGMD1B). Here, we describe novel recurrent mutations identified 50 patients from the United States Canada, which is first report distribution large cohort outside Europe. This augments number known to EDMD by 16.5%, equating an increase 5.9% total mutations. Eight presented with either p.R249W/Q or...
Abstract Introduction: In this study we describe a patient with prolonged myasthenic crisis refractory to conventional immunomodulatory therapy who was treated GM‐CSF (granulocyte macrophage colony‐stimulating factor, sargramostim). Methods: T‐regulatory cell (Treg) suppressive function and Foxp3 expression were evaluated before after treatment GM‐CSF. Results: Treatment associated clinical improvement, expansion in the circulating numbers of + cells, increase levels Tregs, early improvement...
Treatment with interferon-α (IFN-α) has been associated the occurrence of a number autoimmune disorders. We report case chronic inflammatory demyelinating polyneuropathy (CIDP) occurring in patient viral hepatitis C infection who received novel, long-acting form IFN-α. After withdrawal interferon treatment, this responded to single extended course plasma exchange that resulted complete clinical remission symptoms without relapse. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 433–435,
The authors report a prospective pilot trial of etanercept in corticosteroid-dependent autoimmune myasthenia gravis. Eleven patients were enrolled, with eight completing the 6-month trial. Two withdrawn owing to disease worsening, and one patient was because an erythematous skin rash. Six who completed improved, based on quantitative measures muscle strength lowering corticosteroid requirement.
Abstract We present three cases of dropped head syndrome that occurred as a complication mantle field (i.e., lymph nodes the neck, axillae, and mediastinum) or whole‐body radiation therapy for Hodgkin's disease. These are characterized by late onset (2–27 years after treatment), fibrosis, contraction anterior cervical muscles, atrophy posterior neck shoulder girdle. This report adds to increasing literature about neurological complications describes previously unrecognized cause syndrome....
Abstract Dendritic cells (DCs) have the potential to activate or tolerize T in an Ag-specific manner. Although precise mechanism that determines whether DCs exhibit tolerogenic immunogenic functions has not been precisely elucidated, growing evidence suggests DC function is largely dependent on differentiation status, which can be manipulated using various growth factors. In this study, we investigated effects of mobilization specific subsets—using GM-CSF and fms-like tyrosine kinase...
Monoclonal antibodies that target either PD-1 or PD-L1 have recently been approved for treatment of advanced non-small cell lung cancer. These are immune checkpoint inhibitors which shown to exacerbate Myasthenia Gravis (MG) and other autoimmune diseases. While effective in preventing tumor cells from evading attack, such as nivolumab, an antibody directed against the programmed death protein-1 (PD-1) receptor located on T-cells, may also cause dysregulation could potentiate pre-existing...