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

Niki Armstrong; Susan Apkon; Kiera N Berggren; Catherine Braun; Emma Ciafaloni; Anne Connolly; Annie Kennedy; Nancy Kuntz; Katherine Mathews; Michelle McGuire; Richard Parad; Mena Scavina; Rebecca J Scharf; Megan Waldrop

doi:10.3233/JND-230180

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

J Neuromuscul Dis. 2024;11(2):525-533. doi: 10.3233/JND-230180.

Authors

Affiliations

¹ Parent Project Muscular Dystrophy, Washington, DC, USA.
² Children's Hospital Colorado/University of Colorado, Aurora, CO, USA.
³ Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
⁴ University of Virginia Children's Hospital, Charlottesville, VA, USA.
⁵ University of Rochester, , Rochester, NY, USA.
⁶ Nationwide Children's Hospital, Columbus, OH, USA.
⁷ EveryLife Foundation for Rare Diseases, Washington, DC, USA.
⁸ Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
⁹ Stead Family Department of Pediatrics, University of Iowa, , Iowa City, IA, USA.
¹⁰ Cincinnati Children's Hospital, Cincinnati, OH, USA.
¹¹ Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA.
¹² Nemours Children's Hospital-Delaware, Wilmington, DE, USA.

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.

Keywords: Duchenne muscular dystrophy; genetic carrier screening; genetic counseling; genetic testing; neurodevelopmental disorders; neuromuscular diseases –diagnosis; newborn screening; patient care management; therapeutics.

Publication types

Congress

MeSH terms

Adrenal Cortex Hormones
Child, Preschool
Female
Humans
Infant
Infant, Newborn
Male
Muscular Dystrophy, Duchenne* / diagnosis
Muscular Dystrophy, Duchenne* / genetics
Muscular Dystrophy, Duchenne* / therapy
Neonatal Screening

Substances

Adrenal Cortex Hormones