Tahseen Mozaffar
A5089683798- Lysosomal Storage Disorders Research
- Inflammatory Myopathies and Dermatomyositis
- Glycogen Storage Diseases and Myoclonus
- Amyotrophic Lateral Sclerosis Research
- Myasthenia Gravis and Thymoma
- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Peripheral Neuropathies and Disorders
- Biochemical and Molecular Research
- Genetic Neurodegenerative Diseases
- Parkinson's Disease and Spinal Disorders
- Child Nutrition and Feeding Issues
- Nerve injury and regeneration
- Carbohydrate Chemistry and Synthesis
- Parkinson's Disease Mechanisms and Treatments
- Hereditary Neurological Disorders
- Cardiomyopathy and Myosin Studies
- Immunodeficiency and Autoimmune Disorders
- Neurological diseases and metabolism
- Cancer Treatment and Pharmacology
- Antifungal resistance and susceptibility
- Eosinophilic Disorders and Syndromes
- CAR-T cell therapy research
- Botulinum Toxin and Related Neurological Disorders
- Peripheral Nerve Disorders
University of California, Irvine
2016-2025
UC Irvine Health
2018-2024
University of California System
2014-2023
Irvine University
2023
Institute of Immunology
2022-2023
University of Kansas Medical Center
2015-2022
Brigham and Women's Hospital
2022
Harvard University
2015-2022
University of Washington Medical Center
2022
University of New Mexico
2022
Thymectomy has been a mainstay in the treatment of myasthenia gravis, but there is no conclusive evidence its benefit. We conducted multicenter, randomized trial comparing thymectomy plus prednisone with alone.We compared extended transsternal alternate-day alone. Patients 18 to 65 years age who had generalized nonthymomatous gravis disease duration less than 5 were included if they Myasthenia Gravis Foundation America clinical class II IV (on scale from I V, higher classes indicating more...
<h3>Objective</h3> To investigate safety and explore efficacy of efgartigimod (ARGX-113), an anti-neonatal Fc receptor immunoglobulin G1 fragment, in patients with generalized myasthenia gravis (gMG) a history anti-acetylcholine (AChR) autoantibodies, who were on stable standard-of-care (MG) treatment. <h3>Methods</h3> A phase 2, exploratory, randomized, double-blind, placebo-controlled, 15-center study is described. Eligible randomly assigned (1:1) to receive 4 doses over 3-week period...
Complement activation at the neuromuscular junction is a primary cause of acetylcholine receptor loss and failure transmission in myasthenia gravis (MG). Eculizumab, humanized monoclonal antibody, blocks formation terminal complement complex by specifically preventing enzymatic cleavage 5 (C5).This study was randomized, double-blind, placebo-controlled, crossover trial involving 14 patients with severe, refractory generalized MG (gMG).Six 7 treated eculizumab for 16 weeks (86%) achieved...
<h3>Importance</h3> Many patients with generalized myasthenia gravis (gMG) have substantial clinical disability, persistent disease burden, and adverse effects attributable to chronic immunosuppression. Therefore, there is a significant need for targeted, well-tolerated therapies the potential improve control enhance quality of life. <h3>Objective</h3> To evaluate zilucoplan, subcutaneously (SC) self-administered macrocyclic peptide inhibitor complement component 5, in broad population...
Macrophages are essential for skeletal muscle homeostasis, but how their dysregulation contributes to the development of fibrosis in disease remains unclear. Here, we used single-cell transcriptomics determine molecular attributes dystrophic and healthy macrophages. We identified six clusters unexpectedly found that none corresponded traditional definitions M1 or M2 Rather, predominant macrophage signature was characterized by high expression fibrotic factors, galectin-3 (gal-3) osteopontin...
Approximately 90% of persons with amyotrophic lateral sclerosis (ALS) have the sporadic form, which may be caused by interaction multiple environmental factors and previously unknown genes.We performed a genomewide association analysis using 766,955 single-nucleotide polymorphisms (SNPs) found in 386 white patients ALS 542 neurologically normal controls (the discovery series). Associations SNPs were confirmed two independent replication populations: series 1, 766 case disease 750 controls,...
Mutations in KCNJ2, the gene encoding inward-rectifying K+ channel Kir2.1, cause cardiac, skeletal muscle, and developmental phenotypes of Andersen-Tawil syndrome (ATS; also known as Andersen syndrome). Although pathogenic mechanisms have been proposed for select mutations, a common mechanism has not identified.Seventeen probands presenting with symptoms characteristic ATS were evaluated clinically screened mutations KCNJ2. The results mutation analysis combined those from previously studied...
We performed a retrospective chart review on 53 muscle-specific kinase antibody (MuSK-Ab)-positive myasthenia gravis (MG) patients at nine university-based centers in the U.S. Of these, 66% were Caucasian, 85% women, and age of onset was 9-79 years. Twenty-seven nonresponsive to anticholinesterase therapy. Myasthenia Gravis Foundation America improvement status achieved 53% corticosteroids, 51% with plasma exchange, 20% intravenous immunoglobulin (IVIG). Thymectomy beneficial 7/18 3...
Abstract Objective Limb‐girdle muscular dystrophies ( LGMD s), one of the most heterogeneous neuromuscular disorders NMD involves predominantly proximal‐muscle weakness with >30 genes associated different subtypes. The clinical‐genetic overlap among subtypes and other s complicate disease‐subtype identification lengthening diagnostic process, increases overall costs hindering treatment/clinical‐trial recruitment. Currently seven clinical trials are active but still no gene‐therapy‐related...
Mutations in valosin-containing protein (VCP), an ATPase involved degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences disorder could be explained by the specific gene mutations. We therefore studied 231 individuals (118 males 113 females) from 36 families carrying 15 different analyzed correlation between mutations prevalence, age severity myopathy, Paget's disease...
To determine the steroid-sparing effect of methotrexate (MTX) in patients with symptomatic generalized myasthenia gravis (MG).We performed a 12-month multicenter, randomized, double-blind, placebo-controlled trial MTX 20 mg orally every week vs placebo 50 acetylcholine receptor antibody-positive MG between April 2009 and August 2014. The primary outcome measure was prednisone area under dose-time curve (AUDTC) from months 4 to 12. Secondary measures included changes Quantitative Myasthenia...
<h3>Objective</h3> To investigate the efficacy and safety of belimumab, a fully human immunoglobulin G1λ monoclonal antibody against B-lymphocyte stimulator, in participants with generalized myasthenia gravis (MG) who remained symptomatic despite standard care (SoC) therapy. <h3>Methods</h3> Eligible MG were randomized 1:1 to receive IV belimumab 10 mg/kg or placebo this phase II, placebo-controlled, multicenter, double-blind study (NCT01480596; BEL115123). Participants received SoC...
<h3>Objectives</h3> To explore phenotypic differences between individuals with sporadic inclusion body myositis (sIBM) who are seropositive for the NT5c1A antibody compared those seronegative. <h3>Methods</h3> Cross-sectional clinical, serological and functional analysis in 25 consecutive participants sIBM. <h3>Results</h3> All met criteria clinically defined or probable 18 of sIBM (72%) were antibody. No median age duration illness two groups seen. Females have higher odds being (OR=2.30)....
Abstract Introduction/Aims Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative illness with great unmet patient need. We aimed to evaluate whether mesenchymal stem cells induced secrete high levels of neurotrophic factors (MSC‐NTF), novel autologous cell‐therapy capable targeting multiple pathways, could safely slow ALS disease progression. Methods This randomized, double‐blind, placebo‐controlled study enrolled participants meeting revised El Escorial criteria, Functional...
Sporadic inclusion body myositis (IBM) is the most common acquired muscle disease in adults over age 50, yet it remains unclear whether primarily driven by T cell–mediated autoimmunity. IBM biopsies display nuclear clearance and cytoplasmic aggregation of TDP-43 cells, a pathologic finding observed initially neurodegenerative diseases, where loss neurons causes aberrant RNA splicing. Here, we show that TDP-43–mediated splicing repression, as determined cryptic exons, occurs skeletal subjects...