Colin Quinn
A5081457270- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Frailty in Older Adults
- Neurological diseases and metabolism
- Cardiovascular Syncope and Autonomic Disorders
- Alzheimer's disease research and treatments
- Chemotherapy-induced cardiotoxicity and mitigation
- Genomics and Rare Diseases
- Cancer Treatment and Pharmacology
- Peripheral Neuropathies and Disorders
- Muscle Physiology and Disorders
- Inflammatory Myopathies and Dermatomyositis
- Dysphagia Assessment and Management
- Geriatric Care and Nursing Homes
- Emergency and Acute Care Studies
- Orthopedic Surgery and Rehabilitation
- Cancer-related cognitive impairment studies
- Cholinesterase and Neurodegenerative Diseases
- Botulinum Toxin and Related Neurological Disorders
- Glycogen Storage Diseases and Myoclonus
- Parkinson's Disease and Spinal Disorders
- Heart Rate Variability and Autonomic Control
University of Pennsylvania
2016-2025
Hospital of the University of Pennsylvania
2013-2025
Emory University
2025
University Hospital Limerick
2011-2024
University of Limerick
2011-2024
Children's Hospital of Pittsburgh
2024
Ludwig-Maximilians-Universität München
2024
Friedrich Baur Stiftung
2024
Edwards Comprehensive Cancer Center
2024
Philadelphia University
2018-2023
Sodium phenylbutyrate and taurursodiol have been found to reduce neuronal death in experimental models. The efficacy safety of a combination the two compounds persons with amyotrophic lateral sclerosis (ALS) are not known.
Abstract An orally administered, fixed‐dose coformulation of sodium phenylbutyrate‐taurursodiol (PB‐TURSO) significantly slowed functional decline in a randomized, placebo‐controlled, phase 2 trial ALS (CENTAUR). Herein we report results long‐term survival analysis participants CENTAUR. In CENTAUR, adults with were randomized 2:1 to PB‐TURSO or placebo. Participants completing the 6‐month (24‐week) eligible receive open‐label extension. all‐cause mortality (35‐month maximum follow‐up...
Background. Variant influenza virus infections are rare but may have pandemic potential if person-to-person transmission is efficient. We describe the epidemiology of a multistate outbreak an A(H3N2) variant (H3N2v) first identified in 2011.
<h3>Objective</h3> To measure the frequency, persistence, isoform specificity, and clinical correlates of neurofascin antibodies in patients with peripheral neuropathies. <h3>Methods</h3> We studied cohorts Guillain-Barre syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP) (n = 59), genetic neuropathy 111), idiopathic 43) for immunoglobulin (Ig) G IgM responses to 3 (NF) isoforms (NF140, NF155, NF186) using cell-based assays. <h3>Results</h3> Neurofascin were more...
Coformulated sodium phenylbutyrate/taurursodiol (PB/TURSO) was shown to prolong survival and slow functional decline in amyotrophic lateral sclerosis (ALS).
Genetic testing is now the standard of care for many neurologic conditions. Health disparities are unfortunately widespread in US health system, but utilization genetic conditions have not been studied. We tested hypothesis that access to and results vary according race, ethnicity, sex, socioeconomic status, insurance status adults with
To determine the safety and tolerability of mexiletine in a phase II double-blind randomized controlled trial sporadic amyotrophic lateral sclerosis (SALS).Sixty participants with SALS from 10 centers were 1:1:1 to placebo, 300 mg/d, or 900 mg/d followed for 12 weeks. The primary endpoints tolerability. Secondary pharmacokinetic study plasma CSF, ALS Functional Rating Scale-Revised (ALSFRS-R) score, slow vital capacity (SVC), muscle cramp frequency severity.The only serious adverse event...
Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin relaxation due epigenetic changes at the 4q35 D4Z4 macrosatellite array. Molecular diagnostic criteria for FSHD are complex and involve analysis of high molecular weight (HMW) genomic DNA isolated from lymphocytes, followed by multiple restriction digestions, pulse-field gel electrophoresis (PFGE), Southern blotting. A subject genetically diagnosed as FSHD1 if one 4q alleles shows a contraction in array below 11 repeats,...
Validation of biomarkers upper motor neuron (UMN) impairment in amyotrophic lateral sclerosis (ALS) requires a reliable clinical assessment UMN findings. The Penn Upper Motor Neuron Score© (PUMNS) is standardized measure signs ALS. Our aims were to evaluate its intra- and inter-rater reliability, examine inter-item reliability as proxy for item relatedness scale efficiency.Study procedures performed during routine clinic visits. We calculated intra using Pearson's correlation coefficient...
<h3>Importance</h3> A new outcome measure for overall disability level with improved responsiveness is needed amyotrophic lateral sclerosis (ALS) clinical trials. <h3>Objective</h3> To describe the creation and development of a self-reported ALS scale item targeting psychometric properties that used mathematically rigorous Rasch methodology. <h3>Design, Setting, Participants</h3> preliminary questionnaire 119 questions was created based on literature review, judgement an expert panel,...
Valosin-containing protein (VCP) disease, caused by mutations in the
Efgartigimod is a neonatal Fc receptor blocker and was the first approved medication in its class for treatment of generalized myasthenia gravis (gMG). As novel therapy, little known about use efgartigimod clinical practice. This study aims to describe how being incorporated into current therapeutic landscape MG.We reviewed charts 17 patients with gMG treated at University Pennsylvania between January 2022 June 2023.Efgartigimod selected mainly who were refractory, had side effects other...
Abstract The phase III double-blind PROPEL study compared the novel two-component therapy cipaglucosidase alfa + miglustat (cipa mig) with alglucosidase placebo (alg pbo) in adults late-onset Pompe disease (LOPD). This ongoing open-label extension (OLE; NCT04138277) evaluates long-term safety and efficacy of cipa mig. Outcomes include 6-min walk distance (6MWD), forced vital capacity (FVC), creatine kinase (CK) hexose tetrasaccharide (Hex4) levels, patient-reported outcomes safety. Data are...
Objective Plasma phosphorylated tau (p‐tau 181 ) is reliably elevated in Alzheimer's disease (AD), but less explored its specificity relative to other neurodegenerative conditions. Here, we find novel evidence that plasma p‐tau amyotrophic lateral sclerosis (ALS), a condition typically lacking pathology. We performed detailed evaluation identify the clinical correlates of ALS. Methods Patients were clinically or pathologically diagnosed with ALS (n = 130) AD 79), healthy non‐impaired...
Objective: Amyotrophic lateral sclerosis (ALS) is a multi-system disorder characterized primarily by motor neuron degeneration, but may be accompanied cognitive dysfunction. Statistically appropriate criteria for establishing impairment (CI) in ALS are lacking. We evaluate quantile regression (QR), that accounts age and education, relative to traditional two standard deviation (SD) cutoff defining CI. Methods: QR of cross-sectional data from multi-center North American Control (NAC) cohort...
Background: This study aimed to explore the process, clinical, and patient-reported outcomes of older adults who received an interdisciplinary Comprehensive Geriatric Assessment (CGA) in emergency department (ED) over a six-month period after their initial ED attendance. Patients Methods: A prospective cohort recruited aged ≥ 65 years presented university teaching hospital Ireland. Baseline assessment data comprising battery demographic variables validated indices were obtained at index...
Neuroinflammation is increasingly tied to disease progression in amyotrophic lateral sclerosis (ALS). Participants the first-in-human trial of intra-spinal allogeneic stem cell therapy for ALS received immunosuppression, and one participant saw dramatic improvement across multiple outcome measures. The primary objective this study (NCT01884571) was assess rate clinical response same immunosuppressive regimen using basiliximab, tacrolimus, mycophenolate, prednisone people with ALS. A defined...
Objective Amyotrophic Lateral Sclerosis (ALS) is a heterogeneous neurodegenerative condition featuring variable degrees of motor and cognitive impairment. We assessed the impact specific, empirically derived occupational skills requirements on functioning in ALS.
beat-to-beat technology is increasingly used for investigating orthostatic intolerance (OI) but the prevalence of hypotension (OH) diagnosed with this unclear.(i) to use define OH, (ii) investigate pathological correlates (iii) report diversity postural BP responses.cross-sectional study adults ≥ 65 years. responses a 3-min head-up tilt were analysed.of 326 participants, 203(62.3%) females. The median (IQR) age was 73 (70-78). One hundred and ninety-one (58.6%) met standard (20 mmHg...
The goal of this work was to determine whether locally acting ACE-083 is safe and well tolerated increases muscle volume, motor function, quality life (QoL) in adults with Charcot-Marie-Tooth disease (CMT) type 1.This phase 2 study enrolled CMT1 or CMTX (N = 63). Part 1 open label evaluated the safety tolerability different dose levels for use part 2. a randomized, placebo-controlled, 6-month 240 mg/muscle injected bilaterally into tibialis anterior muscle, followed by 6-month, open-label...