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Dublin Core
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Title
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April 2020 List
Text
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Citation List Month
April 2020 List
URL Address
<a href="http://doi.org/10.1016/j.ymgme.2019.11.329" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.ymgme.2019.11.329</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Caregiver-reported impact on quality of life and disease burden in patients diagnosed with metachromatic leukodystrophy: Results of an online survey and a qualitative interview
Publisher
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Molecular Genetics and Metabolism
Date
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2020
Subject
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adolescent; adult; biomedical technology assessment; bone marrow transplantation; Caregiver; child; clinical article; conference abstract; controlled study; disease burden; enzyme replacement; European Quality of Life 5 Dimensions questionnaire; female; follow up; France; Germany; human; human tissue; infant; institutional review; interview; investment; juvenile; male; metachromatic leukodystrophy; multicenter study; palliative therapy; patient advocacy; patient care; preliminary data; quality of life; recall; sample size; wellbeing
Creator
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Pang F; Shapovalov Y; Howie K; Wilds A; Calcagni C; Walz M
Description
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Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). Symptoms include motor decline, developmental regression, decreased intellectual capabilities, and behavioural/psychiatric abnormalities. Until now, little data exists on the burden of illness of MLD for patients and their caregivers. This multinational study aims to quantify caregiver-reported impacts across several key domains including symptoms, treatment burden, time investment, social & emotional well-being, and professional and financial impact. Data were collected using a 45 min web survey and follow-up interview. The survey incorporated the PedsQLTM, a well-validated QoL measure for adolescents and children, and other questions specifically designed to measure the resource use relevant for MLD families based on a majority recall period of 4 weeks. The EQ-5D was also administered to capture the impact of MLD on caregivers (health disutilities). Extensive validation of the survey was conducted through feedback from clinical experts (US and France), and MLD patient advocacy groups (US and UK). This study was approved by an independent Institutional Review Board. Respondents were recruited from the US, UK, France, and Germany, representing a mix of families based on onset types (late infantile, juvenile, adult) and treatment received (supportive/palliative care, bone marrow transplant, enzyme replacement therapy). Due to the rarity of the disease, this study has no upper limit on sample size and is actively recruiting to December 2019 with a sample of >=30 respondents. Preliminary results based on current available data indicate that there is significant burden of MLD on patients and their caregivers, with some degree of variability depending on onset type. This multinational study enhances our understanding of the burden of disease of MLD, which ultimately should improve patient care and assist in the health technology assessment (HTA) of interventions for MLD.
Identifier
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<a href="http://doi.org/10.1016/j.ymgme.2019.11.329" target="_blank" rel="noreferrer noopener">10.1016/j.ymgme.2019.11.329</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2020
Adolescent
Adult
April 2020 List
biomedical technology assessment
Bone Marrow Transplantation
Calcagni C
Caregiver
Child
Clinical Article
conference abstract
Controlled Study
Disease Burden
enzyme replacement
European Quality of Life 5 Dimensions Questionnaire
Female
Follow Up
France
Germany
Howie K
Human
Human Tissue
Infant
Institutional Review
Interview
investment
juvenile
Male
Metachromatic Leukodystrophy
Molecular Genetics and Metabolism
Multicenter Study
Palliative Therapy
Pang F
Patient Advocacy
Patient Care
preliminary data
Quality Of Life
Recall
Sample Size
Shapovalov Y
Walz M
Wellbeing
Wilds A