Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care

Abstract

Duchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disorder typically diagnosed between 4 and 5 years of age. DMD currently has five FDA approved therapies, which has led to increased interest in newborn screening (NBS) for DMD. Our objective was to explore the perspectives and predicted practices of physicians (primarily neurologists) who will likely be responsible for the follow-up of infants identified with DMD through NBS. A short survey was developed and distributed to physicians who are responsible for providing care for patients with Duchenne at Certified Duchenne Care Centers across the USA. Twenty-seven physicians responded to statements about benefit and readiness for dystrophinopathy NBS, which care recommendations they would make at initial infant visits, and when they would recommend initiating approved therapies. Most DMD physicians indicated they see benefit in NBS (82%) and believe the DMD care community is ready for NBS in dystrophinopathies (74%). The majority of physicians would recommend multiple interventions, including genetic counseling, maternal carrier testing, referral to early intervention services, screening siblings, discussion of clinical trials, exon skipping therapies, and assessment of social and language development at initial visits.The majority of physicians also indicated they would recommend initiating approved therapies much earlier than the typical age of diagnosis.

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

“…The recent addition of spinal muscular atrophy (SMA) to the RUSP in 2018 has set a precedent for neuromuscular disorders to be included in NBS panels. Expert DMD care physicians [ 36 ] and affected families prefer early diagnosis for prompt access to treatments that are most effective in the newborn stage [ 30 ]. Therapies for DMD tend to be more impactful before significant muscle degeneration occurs [ 24 , 25 , 26 ].…”

Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders

“…This contrasts with perspectives of HCPs from the United States (US), where substantial advocacy for NBS for DMD has been perceived. 27 , 28 This is perhaps a testament to the stringent pharmaceutical regulatory landscape and health technology assessment processes within Australia, precluding the availability of reimbursed and approved therapeutic interventions for DMD outside of access to oral glucocorticoids. 29 In contrast to caregivers who generally felt empowered by an early diagnosis which they perceived had multiple primary and secondary benefits to the newborn and family, HCPs in our study expressed greater uncertainty about the net benefits of a newborn diagnosis, with notable concerns over the psychosocial harms of diagnostic knowledge through NBS without a recourse to therapeutic intervention early in life.…”

Implications of notch signaling in duchenne muscular dystrophy

“…DMD is medically evaluated in several manners, including via laboratory work, muscle biopsy, gene analysis, electromyography, and cardiac testing ( Venugopal and Pavlakis, 2022 ). The possibility of newborn screening has been extensively discussed, and a recent survey revealed that most DMD physicians would see a benefit in newborn screening and feel that the DMD care community is ready for this ( Armstrong et al, 2022 ). This may be of greatly advantageous, as the majority of DMD physicians also indicated that they would recommend initiating therapies much earlier than the typical age at which DMD is currently diagnosed ( Armstrong et al, 2022 ).…”

“…The possibility of newborn screening has been extensively discussed, and a recent survey revealed that most DMD physicians would see a benefit in newborn screening and feel that the DMD care community is ready for this ( Armstrong et al, 2022 ). This may be of greatly advantageous, as the majority of DMD physicians also indicated that they would recommend initiating therapies much earlier than the typical age at which DMD is currently diagnosed ( Armstrong et al, 2022 ). However, this has not yet become standard ( Birnkrant et al, 2018b ).…”