Publications by authors named "Chamindra G Laverty"
Neonatal hypotonia, defined as hypotonia present from birth to 4 w of age, has a plethora of causes. Distinguishing between central and peripheral causes is the key to arriving at a timely diagnosis. A thorough history, general and neurologic examination, and systematic utilization of laboratory and ancillary studies allow for rapid diagnosis in most cases.
View Article and Find Full Text PDFClinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
Ann Clin Transl Neurol
March 2025
Objective: While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII-related disorders have previously been documented.
Methods: We present detailed clinical, immunocytochemical, and imaging data on eight additional patients from seven families with biallelic pathogenic variants in COL12A1.
Results: All patients presented with a consistent constellation of congenital onset clinical features: hypotonia, dysmorphic features, most notably gingival hypertrophy, prominent distal joint hyperlaxity, with co-occurring contractures of large joints, and variable muscle involvement, evident both clinically and on muscle imaging.
Article Synopsis
- Phosphorodiamidate morpholino oligomers (PMOs) are weekly intravenous treatments approved for Duchenne muscular dystrophy (DMD) that allow for certain exon skipping, but real-world usage data is scarce.
- The study used data from MarketScan commercial and Medicaid claims between 2018-2021 to analyze PMO treatment patterns, finding 133 patients with claims for PMOs, generally aged around 14 years and predominantly male.
- Results showed a high median proportion of days covered at 83.4%, with over half of the patients maintaining continuous treatment coverage, and a significant majority of those with treatment gaps later resumed PMO claims despite potential underestimations from the claims data.*
Healthcare Stakeholder Perspectives on a Value Assessment Approach for Duchenne Muscular Dystrophy Therapies.
J Multidiscip Healthc
August 2024
Purpose: Traditional value assessment frameworks are challenged in comprehensively assessing the societal value new therapies bring to individuals with rare, progressive, genetic, fatal, neuromuscular diseases such as Duchenne muscular dystrophy (DMD). The objective of this study was to identify how value assessment frameworks may need to be adapted to measure the value to society of DMD therapies.
Patients And Methods: Three stakeholder groups (6 patient advocates, 4 clinicians, 3 health economists; N = 13) participated in semi-structured interviews around the International Society for Pharmacoeconomics and Outcomes Research's Value Flower, which includes elements to consider within value assessments of healthcare technologies.
Article Synopsis
- Congenital myasthenic syndrome-22 (CMS22) is a rare genetic condition linked to variations in the PREPL gene, with previous research focusing mainly on deletions and nonsense mutations.
- This study investigates missense variants in PREPL from three CMS22 patients, revealing that these variants do not affect hydrolase activity, which contradicts existing diagnostic standards.
- Structural analysis indicates that these missense variants interfere with protein interactions and highlight the significance of PREPL's nonhydrolytic functions, suggesting that CMS22 can arise from different types of genetic changes beyond just deletions.
Article Synopsis
- Duchenne muscular dystrophy (DMD) is a serious genetic disorder caused by a lack of dystrophin, and the study explores the potential of givinostat, a histone deacetylase inhibitor, to improve outcomes for affected children.* -
- Conducted as a phase 3, double-blind, placebo-controlled trial across 41 sites in 11 countries, researchers tested the safety and efficacy of givinostat in boys aged 6 and older who were already on corticosteroid treatment.* -
- The primary goal was to assess the four-stair climb performance after 72 weeks of treatment, comparing changes between those given givinostat and the placebo, while monitoring safety throughout the study.*
Pathogenic variants in the DES gene clinically manifest as progressive skeletal muscle weakness, cardiomyopathy with associated severe arrhythmias, and respiratory insufficiency, and are collectively known as desminopathies. While most DES pathogenic variants act via a dominant mechanism, recessively acting variants have also been reported. Currently, there are no effective therapeutic interventions for desminopathies of any type.
View Article and Find Full Text PDFBackground And Objective: Patients with neuromuscular disease are often treated with home noninvasive ventilation (NIV) with devices capable of remote patient monitoring. We sought to determine whether long-term NIV data could provide insight into the effectiveness of ventilation over time.
Methods: We abstracted available longitudinal data for adults with neuromuscular disease in monthly increments from first available to most recent.