The Early Care (0–3 Years) In Duchenne Muscular Dystrophy Meeting Report

Author:

Armstrong Niki1,Apkon Susan2,Berggren Kiera N.3,Braun Catherine4,Ciafaloni Emma5,Connolly Anne6,Kennedy Annie7,Kuntz Nancy8,Mathews Katherine9,McGuire Michelle10,Parad Richard11,Scavina Mena12,Scharf Rebecca J.4,Waldrop Megan6

Affiliation:

1. Parent Project Muscular Dystrophy

2. Children’s Hospital Colorado/University of Colorado

3. Department of Neurology at Virginia Commonwealth University

4. University of Virginia Children’s Hospital

5. University of Rochester

6. Nationwide Children’s Hospital

7. EveryLife Foundation for Rare Diseases

8. Ann & Robert H Lurie Children’s Hospital of Chicago

9. Stead Family Department of Pediatrics, University of Iowa

10. Cincinnati Children’s Hospital

11. Harvard Medical School and Brigham and Women’s Hospital

12. Nemours Children’s Hospital-Delaware

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.

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3