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JHEOR

Genetic Disorders

People and Families Affected by Glycogen Storage Disease Type Ia: An Analysis of Narrative Accounts Written by Individuals Living with GSDIa and Their Caregivers
April 03, 2025 EDT
People and Families Affected by Glycogen Storage Disease Type Ia: An Analysis of Narrative Accounts Written by Individuals Living with GSDIa and Their Caregivers
Eliza KrugerHayley M. de FreitasIris FerrecchiaMillie GaydonAndrew Lloyd

This study describes the individual experiences of those affected by glycogen storage disease type I through qualitative methods.

Clinical and Economic Outcomes in Patients With Alpha-1 Antitrypsin Deficiency in a US Medicare Advantage Population
February 20, 2025 EDT
Clinical and Economic Outcomes in Patients With Alpha-1 Antitrypsin Deficiency in a US Medicare Advantage Population
Nikhil KhandelwalJimmy HinsonTrinh NguyenAlexjandro DavianoYihua XuBrandon T. SuehsSally HigginsMarie SanchiricoJ. Michael Wells

This study examines real-world healthcare trends including testing for alpha-1 antitrypsin deficiency (AATD), clinical outcomes, and economic burden of COPD patients, both with and without AATD.

Glycogen Storage Disease Type Ia: A Retrospective Claims Analysis of Complications, Resource Utilization, and Cost of Care
January 07, 2025 EDT
Glycogen Storage Disease Type Ia: A Retrospective Claims Analysis of Complications, Resource Utilization, and Cost of Care
Eliza KrugerJustin NedzeskyNina ThomasJeffrey D. DunnAndrew A. Grimm

This retrospective database analysis assessed the complications, resource utilization, and costs in a large cohort of patients with glycogen storage disease type Ia.

Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands
January 02, 2025 EDT
Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands
Holly LumgairLisa BashorumAlasdair MacCullochElizabeth MinasGeorge TimminsDrago BratkovicRichard PerryMedi StoneVasileios BlazosElisabetta ContiRaymond Saich

This study investigates how self-reported status of late-onset Pompe disease relates to quality of life and characterizes participant experiences, including mobility or ventilation aids, caregivers, symptomology, and daily life impacts.

October 18, 2024 EDT
Patient Experience of Living With Hemophilia A: A Conceptual Model of Humanistic and Symptomatic Experience in Adolescents, Adults, and Children
Zalmai HakimiRakhee GhelaniLinda BystrickáNana KraghPatrick MarquisJameel NazirNadine McGale

This aim of this qualitative study is to address the humanistic and symptomatic experience of patients living with hemophilia A and the impact of this condition on quality of life.

September 18, 2024 EDT
Health-Related Quality-of-Life Utility Values in Adults With Late-Onset Pompe Disease: Analyses of EQ-5D Data From the PROPEL Clinical Trial
Alison GriffithsSimon ShohetNeil JohnsonAlasdair MacCulloch

This analysis of EQ-5D health-related quality-of-life utility data from the PROPEL clinical trial compared cipaglucosidase alfa plus miglustat vs alglucosidase alfa plus placebo in late-onset Pompe disease.

Estimation of Health State Utility Values in Fabry Disease Using Vignette Development and Valuation
April 10, 2023 EDT
Estimation of Health State Utility Values in Fabry Disease Using Vignette Development and Valuation
Derralynn HughesAndrew LennyKoonal ShahLouise LongworthGiovanna DevercelliOlulade Ayodele

The aim of this study was to use vignette construction and valuation to estimate health state utility values suitable for inclusion in economic models of Fabry disease treatments.

Quality of Life with Late-Onset Pompe Disease: Qualitative Interviews and General Public Utility Estimation in the United Kingdom
March 03, 2023 EDT
Quality of Life with Late-Onset Pompe Disease: Qualitative Interviews and General Public Utility Estimation in the United Kingdom
Lena HubigAnna-Katrine SussexAlasdair MacCullochDerralynn HughesRyan GrahamLiz MorrisSyed RazaAndrew J. LloydAmanda SowinskiKaty Gallop

This study aimed to develop health state vignettes and estimate health state utility values for late-onset Pompe disease in the United Kingdom.

Clinical Characteristics and Healthcare Resource Utilization for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review
May 12, 2022 EDT
Clinical Characteristics and Healthcare Resource Utilization for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review
Olulade AyodeleKersten MüllerSolmaz SetayeshgarDavid AlexanderianKaren S. Yee

The aims of this study were to assess the healthcare needs of patients with MPS II and to explore the impact of treatment on disease burden and healthcare resource utilization.

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