Massachusetts Becomes Fourth State to Include Duchenne Muscular Dystrophy in Newborn Screening Panel

Pat Furlong, president and chief executive officer at PPMD

According to an announcement from Parent Project Muscular Dystrophy (PPMD), Massachusetts has approved the addition of Duchenne muscular dystrophy (DMD), the most common muscular dystrophy, to the state’s newborn screening panel. It becomes the fourth state to do so, behind Ohio, New York, and Minnesota.¹

The addition of DMD to the Commonwealth’s newborn screen panel was included as an amendment to the Maternal Health bill that was signed Friday, August 23, 2024, by Governor Maura Healey. The bill will take effect in 90 days, giving Massachusetts 18 months to start screening all newborns for Duchenne, with screening anticipated to begin by June 2026 or sooner.

DMD, which affects more than 300,000 patients worldwide, is caused by pathogenic variants in the X-linked dystrophin gene, where absent or dysfunctional dystrophin protein results in deterioration of skeletal muscle tissue and function. This typically leads to wheelchair dependency by 12 years of age and death at a median age of 30 years. To date, more than 15 centers around the world have implemented a pilot DMD newborn screening program, most utilizing biochemical screening methods. Since 1975, more than 2 million neonates have been screened across these programs with 363 individuals confirmed to have DMD.²

"Our mission at PPMD is to accelerate research, shape policy, demand the highest standards of care for every family, and ensure access to life-changing therapies," Pat Furlong, president and chief executive officer at PPMD, said in a statement.¹ "Newborns identified through the screening program will benefit from vigilant developmental monitoring, timely physical and speech therapy, genetic counseling, and carrier screening for relatives. With eight FDA-approved treatments for Duchenne—four of which are approved for use in infancy—and more promising therapies in development, we remain steadfast in our commitment to providing the best possible care when it matters most: early in a child's life."

With the prospect of disease-modifying agents being initiated in the first months to years of life for children with DMD, there becomes an urgent need to develop new diagnostic paradigms involving newborn screening so that children have equitable access to diagnosis and potentially life-altering medical interventions once available. In addition, an earlier detection of individuals with pathogenic variants in DMD allow for early and more personalized interventions before the loss of significant muscle tissue. Waiting several years for a patient to become fully symptomatic may equate to disease progression that cannot be reversed.

During the newborn screening process for DMD, dried blood samples are used for the initial screening for elevated levels of creatine kinase MM. The screening method for DMD requires a solid phase, 2-site immunofluorometric assay. If the initial screening shows elevated levels of CK-MM, confirmation testing is needed. Confirmatory testing is typically genetic testing, which can be performed on the same DBS. Genetic testing confirms the variant in the dystrophin gene and determines where it is located. Muscle biopsies can also be performed, to test samples of muscle for levels of dystrophin protein to help determine if the disease course is DMD or Becker muscular dystrophy.³

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A 2024 Australian multicenter, mixed-methods study uniquely found that despite the current lack of approved disease-modifying therapies for children with DMD, caregivers still valued receiving a newborn diagnosis facilitated by newborn screening. In the study, 50 caregivers and 26 healthcare professionals completed a codeveloped questionnaire, with perceptions on the utility, model of care, and processes of DMD newborn screening thematically analyzed.⁴

Results showed that most caregivers (40/50, 80%) perceived net benefits of DMD newborn screening and highlighted an early diagnosis as actionable knowledge, even with the current paucity of disease modifying therapies. This knowledge was valued to enable access to multidisciplinary supportive care (29/50, 58%), clinical trials (27/50, 54%), psychological support (28/50, 56%), inform reproductive planning (27/50, 54%), and facilitate financial planning based on the future needs of their child (27/50, 54%). Notably, HCPs stressed concerns over the psychological harms of diagnostic knowledge without a recourse to disease-modifying therapeutic intervention early in life.

Regarding the passage of the new legislation, Lauren Stanford, director of Advocacy at PPMD, said in a statement that, "We commend the Massachusetts legislature for taking this crucial step to ensuring that every baby born is protected from the irreversible consequences of a diagnostic odyssey with Duchenne. This will also allow timely interventions during critical therapeutic windows for those diagnosed, giving them the best chance for effective treatment."¹

PPMD noted that it has been building the infrastructure for early identification of newborns with DMD—including a robust therapeutic pipeline, regulatory infrastructure, and clinical care network and guidelines—since its inception and preparing for the implementation of newborn screening for Duchenne for almost a decade.

REFERENCES
1. Duchenne muscular dystrophy added to Massachusetts’ newborn screening panel. News release. Parent Project Muscular Dystrophy (PPMD). August 27, 2024. Accessed August 30, 2024. https://www.prnewswire.com/news-releases/duchenne-muscular-dystrophy-added-to-massachusetts-newborn-screening-panel-302231968.html#.
2. Farrar MA, Kariyawasam D, Grattan S, et al. Newborn screening for the diagnosis and treatment of Duchenne muscular dystrophy. J Neuromuscul Dis. 2023;10(1):15-28. doi:10.3233/JND-221535
3. Duchenne muscular dystrophy. Everylife Foundation for Rare Diseases. https://everylifefoundation.org/newborn-screening-take-action/newborn-screening-duchenne-muscular-dystrophy/. Accessed August 30, 2024.
4. Ji C, Kariyawasam D, Sampaio H, Lorentzos M, Jones KJ, Farrar MA. Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders. The Lancet. Published online March 19, 2024. doi:10.1016/j.lanwpc.2024.101049