Case Report: Early vitamin D supplementation in ambulatory children with Duchenne muscular dystrophy: a prospective study

Background Vitamin D deficiency is common in Duchenne muscular dystrophy (DMD) and contributes to impaired skeletal health. Evidence describing early real-world responses to supplementation during the ambulatory phase remains limited. Methods Prospective case series including five ambulatory boys with genetically confirmed DMD receiving individualized oral cholecalciferol (vitamin D 3 ) for 6 months. Results Serum 25(OH)D increased in four of five patients, bone mineral density Z-scores improved descriptively in all patients, no new fractures occurred, and treatment was well tolerated. Conclusions Individualized correction of vitamin D deficiency appears feasible and safe in ambulatory children with DMD. These findings support routine screening and individualized correction of vitamin D deficiency as part of multidisciplinary care in ambulatory children with DMD, while highlighting the need for larger controlled studies evaluating long-term skeletal outcomes.

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Publication Details

Journal
Frontiers in Medicine
Published
2026-11-05
DOI
https://doi.org/10.3389/fmed.2026.1935487
Primary Topic
Vitamin D Research Studies
Type
article
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article

Case Report: Early vitamin D supplementation in ambulatory children with Duchenne muscular dystrophy: a prospective study

Giovanni Cacciaguerra, Alessia Caldaci, Xena Giada Pappalardo, Claudia Parano et al.
Frontiers in Medicine
Vitamin D Research Studies
article

Case Report: Early vitamin D supplementation in ambulatory children with Duchenne muscular dystrophy: a prospective study

Giovanni Cacciaguerra, Alessia Caldaci, Xena Giada Pappalardo, Claudia Parano, Emanuele Perricone, Piero Pavone, Francesca Scrofani, Chiara Caruso, Roberta Caschetto, Gaia Nicotra, Eleonora Roccella
article en

Abstract

Background Vitamin D deficiency is common in Duchenne muscular dystrophy (DMD) and contributes to impaired skeletal health. Evidence describing early real-world responses to supplementation during the ambulatory phase remains limited. Methods Prospective case series including five ambulatory boys with genetically confirmed DMD receiving individualized oral cholecalciferol (vitamin D 3 ) for 6 months. Results Serum 25(OH)D increased in four of five patients, bone mineral density Z-scores improved descriptively in all patients, no new fractures occurred, and treatment was well tolerated. Conclusions Individualized correction of vitamin D deficiency appears feasible and safe in ambulatory children with DMD. These findings support routine screening and individualized correction of vitamin D deficiency as part of multidisciplinary care in ambulatory children with DMD, while highlighting the need for larger controlled studies evaluating long-term skeletal outcomes.

Frontiers in MedicineVol. 13
University of Catania (IT), Policlinico Universitario di Catania (IT), Institute for Biomedical Research and Innovation (IT), University of Palermo (AR), National Research Council (IT), Azienda Ospedaliero Universitaria Policlinico "G.Rodolico - San Marco" (IT), University of Palermo (IT)
Openalex Percentile: Top 12%
Vitamin D Research Studies
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