John W. Day

Journal Article JAMA neurology · June 2023 ImportanceIn the previously reported Comparative Enzyme Replacement Trial With neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed clinically meaningful improvements in upright forced vital capacity (FVC) percent ... Full text Cite

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Journal Article J Neuromuscul Dis · 2022 BACKGROUND: ADVANCE (NCT01526785) presented an opportunity to obtain a more nuanced understanding of motor function changes in treatment-experienced children with Pompe disease receiving 4000L-production-scale alglucosidase alfa for 52 weeks. OBJECTIVE: To ... Full text Link to item Cite

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.

Journal Article Lancet Neurol · December 2021 BACKGROUND: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen. We assessed the safety and efficacy of avalglucosidase alfa, a recombinant human GAA enzyme rep ... Full text Link to item Cite

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.

Journal Article Lancet Neurol · April 2021 BACKGROUND: Spinal muscular atrophy type 1 is a motor neuron disorder resulting in death or the need for permanent ventilation by age 2 years. We aimed to evaluate the safety and efficacy of onasemnogene abeparvovec (previously known as AVXS-101), a gene t ... Full text Link to item Cite

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Journal Article Genet Med · November 2019 PURPOSE: To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date. METHODS: Patients aged ≥1 year with confi ... Full text Link to item Cite

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy.

Journal Article J Pharmacokinet Pharmacodyn · October 2019 Drug development for rare diseases is challenged by small populations and limited data. This makes development of clinical trial protocols difficult and contributes to the uncertainty around whether or not a potential therapy is efficacious. The use of dat ... Full text Link to item Cite

Consensus-based care recommendations for adults with myotonic dystrophy type 1.

Journal Article Neurol Clin Pract · December 2018 PURPOSE OF REVIEW: Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access ... Full text Link to item Cite

Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy

Journal Article Annals of Clinical and Translational Neurology · August 1, 2018 Objective: This double-blind, randomized, placebo-controlled Phase 2 study (NCT01462292) assessed the 24-week efficacy, safety, tolerability, and pharmacokinetics of two different subcutaneous drisapersen doses, and the 24-week off-dose persistent effect, ... Full text Cite

Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial.

Journal Article JAMA · October 3, 2012 CONTEXT: Nondystrophic myotonias (NDMs) are rare diseases caused by mutations in skeletal muscle ion channels. Patients experience delayed muscle relaxation causing functionally limiting stiffness and pain. Mexiletine-induced sodium channel blockade reduce ... Full text Link to item Cite

Establishment and characterization of a new human prostatic carcinoma cell line (DuPro-1).

Journal Article J Urol · September 1991 A new human prostate adenocarcinoma cell line (DuPro-1) has been established from the athymic nude mouse supported xenograft DU5683. This was accomplished by embedding dispersed xenograft cells in 0.1 by 5.0 cm. spaghetti-like strands of Basement Membrane ... Full text Link to item Cite

In vitro chemotherapeutic testing of urologic tumors.

Journal Article J Urol · April 1981 We studied 20 transitional cell tumors of the bladder and 25 adenocarcinomas of the kidney in vitro to determine their chemotherapeutic sensitivity. The different sensitivity patterns among the individual tumors were demonstrated. Identical drug sensitivit ... Full text Link to item Cite