OPTIMIZE DMD
OUR VISION
The vision of OPTIMIZE DMD Consortium is to create a learning health network of expert clinicians and scientists who will work effectively to advance the standard of care, research, education and advocacy and thereby move the dial on contemporary “endocrine and bone” clinical care and outcomes facing individuals and families living with Duchenne muscular dystrophy (DMD).
Osteoporosis and fractures are common complications in individuals with Duchenne Muscular Dystrophy (DMD) due to muscle weakness, immobility, and long-term glucocorticoid treatment. Our working group consists of endocrinologists and neuromuscular specialists with experience caring for individuals with DMD. Our mission is to raise awareness and improve the standard of care for the prevention, screening, and treatment of osteoporosis. This initiative seeks to prevent complications from osteoporosis, including early loss of ambulation and fat embolism syndrome, through education for patients and healthcare professionals, as well as research.
Individuals with Duchenne Muscular Dystrophy (DMD) treated with long-term glucocorticoids are at risk of adrenal suppression, which can lead to life-threatening adrenal crises during illness or stress. Our multidisciplinary team is focused on enhancing awareness, screening, and management strategies for adrenal insufficiency in DMD. Through clinical guidance, educational resources, and collaborative research, we aim to support safe steroid use and prevent adrenal-related complications.
Delayed growth and pubertal development are common in individuals with DMD, often resulting from chronic glucocorticoid therapy and underlying disease factors. This working group brings together pediatric endocrinologists and neuromuscular experts to address gaps in care related to growth monitoring and hormonal support. Our goals include developing standardized protocols, educating providers and families, and advancing research to optimize healthy development.
As individuals with DMD are living longer, addressing their sexual health and reproductive concerns has become increasingly important. This working group is dedicated to fostering open, informed discussions on sexuality and fertility, offering evidence-based guidance and resources for patients, families, and healthcare providers. We aim to normalize conversations, reduce stigma, and support autonomy through education and interdisciplinary collaboration.
Maintaining a healthy weight is a key component of care for individuals with DMD, as both undernutrition and obesity can significantly impact health outcomes and quality of life. Our working group is committed to improving strategies for nutritional assessment, dietary interventions, and physical activity support. We promote a proactive, individualized approach to weight management through provider education, family engagement, and research-informed best practices.
Webinar:
Steroids and Stress Dosing
Understanding the Updated PJ Nicholoff Steroid Protocol
OPTIMIZE DMD ambassadors, Drs. Aravindhan Veerapandiyan, David Weber, and Anne Marie Sbrocchi recently participated in a PPMD-hosted webinar to discuss steroid use, stress dosing, and the updated PJ Nicholoff Steroid Protocol. They offered valuable insights into managing steroid treatments, highlighted the significance of stress dosing, and provided guidance to help families navigate the long-term impact of corticosteroid therapy using the PJ Nicholoff Steroid Protocol.
Parent Project Muscular Dystrophy fights to end Duchenne. We accelerate research, raise our voices to impact policy, demand optimal care for every single family, and strive to ensure access to approved therapies.
PPMD’s advocacy efforts are focused on advancing care and treatments for Duchenne by leveraging federal resources, building partnerships, and creating regulatory procedures and infrastructure. PPMD empowers advocates with the tools and information to engage with Congressional representatives to foster Duchenne champions within Congress and to advance legislation and regulatory policies, ensuring that Duchenne priorities are reflected across all government agencies.