Journal article
The Early Care (0–3 Years) In Duchenne Muscular Dystrophy Meeting Report
Journal of neuromuscular diseases, Vol.11(2), pp.525-533
03/05/2024
DOI: 10.3233/JND-230180
PMCID: PMC10977386
PMID: 38189762
Abstract
Objective: This report summarizes the key discussions from the “Early Care (0–3 years) in Duchenne Muscular Dystrophy” meeting, which aimed to address the challenges and opportunities in the diagnosis and care of Duchenne muscular dystrophy (DMD) and female carriers within the 0–3-year age group. Methods: The meeting brought together experts and healthcare providers who shared insights, discussed advancements in DMD care, and identified research needs. Presentations covered diagnostic challenges, approved therapies, clinical trials, identification of young female carriers, and the importance of clinical care and support for families. Results: The meeting highlighted the importance of timely diagnosis and the lack of evidence-based guidelines for the care of children with DMD aged 0–3 years. Diagnostic challenges were discussed, including delays in receiving a DMD diagnosis and disparities based on ethnicity. The potential benefits and process of newborn screening were addressed. Approved therapeutic interventions, such as corticosteroids and exon-skipping drugs, were explored, with studies indicating the potential benefits of early initiation of corticosteroid therapy and the safety of exon-skipping drugs in DMD. Clinical trials involving infants and young boys were discussed, focusing on drugs like ataluren, vamorolone, and gene therapies. The meeting emphasized the importance of clinical care and support for families, including comprehensive information provision, early intervention services, and individualized support. The identification and care of young female carriers were also addressed. Conclusion: The meeting provided a platform for experts and healthcare providers to discuss and identify key aspects of early care for children with DMD aged 0–3 years. The meeting emphasized the need for early diagnosis, evidence-based guidelines, and comprehensive care and support for affected children and their families. Further research, collaboration, and the development of consensus guidelines are needed to improve early diagnosis, treatment, and outcomes in this population.
Details
- Title: Subtitle
- The Early Care (0–3 Years) In Duchenne Muscular Dystrophy Meeting Report
- Creators
- Niki Armstrong - Parent Project Muscular DystrophySusan Apkon - Children's Hospital ColoradoKiera N. Berggren - Virginia Commonwealth UniversityCatherine Braun - University of Virginia Children's HospitalEmma Ciafaloni - University of RochesterAnne Connolly - Nationwide Children's HospitalAnnie Kennedy - EveryLife Foundation for Rare DiseasesNancy Kuntz - Lurie Children's HospitalKatherine Mathews - University of IowaMichelle McGuire - Cincinnati Children's Hospital Medical CenterRichard Parad - Brigham and Women's HospitalMena Scavina - GTxRebecca J. Scharf - University of Virginia Children's HospitalMegan Waldrop - Nationwide Children's Hospital
- Resource Type
- Journal article
- Publication Details
- Journal of neuromuscular diseases, Vol.11(2), pp.525-533
- DOI
- 10.3233/JND-230180
- PMID
- 38189762
- PMCID
- PMC10977386
- ISSN
- 2214-3599
- eISSN
- 2214-3602
- Language
- English
- Electronic publication date
- 01/04/2024
- Date published
- 03/05/2024
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984544955902771
Metrics
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