In April 2023, an international workshop sponsored by Parent Project Muscular Dystrophy and Duchenne Parent Project, Italy, led by Dr. Leanne Ward, Pediatric Endocrinologist at Children’s Hospital of Eastern Ontario (CHEO), gathered over 30 healthcare professionals and patient advocates from four countries to address endocrine and bone issues in individuals living with Duchenne and Becker muscular dystrophy.

The workshop focused on addressing emerging topics of immense interest to families, researchers, and care communities, including:

• Current and novel Duchenne therapies 
• Harmonization of endocrine and bone health data
• Dissociated steroids and standard glucocorticoid therapy
• Prevention and predictors of fractures 
• Puberty, growth, weight management and adrenal suppression
• Strategies for early management around the world

COMMUNITY SUMMARY REPORT

As we gather new information through PPMD’s professional workshops series, our goal is to promote transparency and share learnings with the community. While the full report from the April 2023 workshop is currently in the process of being submitted for publication, we have compiled a Community Summary Report covering key highlights.

Download the Community Report >

KEY INSIGHTS

Steroid Considerations

While there have been significant advances in muscle targeted therapies for Duchenne and Becker, the use of long-term and high-dose corticosteroids (steroids) remain the cornerstone of treatment. While steroids offer benefits, they may also come with adverse effects, including adrenal suppression, compression fractures of the vertebrae, long bone fractures, fat embolism syndrome (FES), weight gain, and the psychosocial impact of growth and pubertal delay. The workshop emphasized the need to improve standards of care, especially in preventing fractures and adrenal suppression.

Impacts of a Potential Vamorolone Approval

Vamorolone, an investigational dissociative steroid for individuals with Duchenne, is currently under review by the FDA in the U.S., with a regulatory decision expected by October 26, 2023. The workshop discussed the potential transition from current steroid treatments to vamorolone and its effects on adrenal insufficiency. The community summary report outlines key management concepts for clinicians during this transition and stresses the importance of early recognition of adrenal insufficiency symptoms, given their non-specific nature, to ensure swift treatment.

Looking Ahead

The April meeting concluded with the creation of a Duchenne Endocrine-Bone Consortium of Working Groups to address various aspects of endocrine and bone health, including the impact of early steroid initiation, weight management, testosterone therapy, and addressing issues related to sexuality, fertility, and gender identity. The goal of these working groups is  aimed at establishing an endocrine- and bone-specific patient registry, developing collaborative clinical care pathways, enabling research initiatives to answer critical questions, and lead the creation of patient and health professional educational materials that address endocrine and bone health challenges in Duchenne. 

UPCOMING WORKSHOP

This week, PPMD is proud to sponsor a follow-up workshop with these dedicated working groups to further advance these important discussions. We remain committed to keeping you informed as we work together to enhance care for individuals living with Duchenne and Becker. Stay tuned for updates on our progress in addressing endocrine and bone issues.