This May, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) plans to vote on whether to add Duchenne to the Recommended Uniform Screening Panel (RUSP) for newborn screening.

To support a push for evidence about the impact of early diagnosis on outcomes prior to the vote, PPMD recently hosted the Duchenne Early Intervention Symposium. Seven researchers presented projects that assessed outcomes in patients treated earlier than the average age of diagnosis, which is between 4-5 years of age. Some highlights from the event include:

• Annie Kennedy (EveryLife Foundation) grounded us in over a decade of collaboration between broad stakeholders that set the foundation for Duchenne newborn screening.
• Megan Iammarino (Nationwide Children’s Hospital) shared what is known about Duchenne natural history up to this point: damage from Duchenne starts in utero and it is diagnosed late even when parents start noticing symptoms very young. 
• Lauren Bogue (PPMD) reported her finding that registrants in The Duchenne Registry who started steroid treatment younger than age five walked about one year longer than those who started steroids later. When focusing on DMD variants that are expected to present similarly, this effect grew to almost two years’ difference in walking.
• Dr. Emma Ciafaloni (University of Rochester) presented data from a cross-trial analysis, revealing that 12-month scores for the NSAA, 10 meter walk/run, and time to rise were all significantly better for those who started steroids between 4-8 compared to those who had not started steroids between those ages.
• Casey Little (University of Virginia School of Medicine) explored mental health outcomes, finding that those who started steroids younger than age five reported lower levels of worry and higher levels of depressive symptoms than those who started steroids older.
• Dr. Crystal Proud (Children’s Hospital of the King’s Daughters) reported the two-year functional outcomes from the clinical trials for gene therapy delandistrogene moxeparvovec (Elevidys). Two years after dosing, patients had statistically significant and clinically meaningful functional benefit versus controls, as well as less disease progression as represented by muscle fat fraction and transverse relaxation time (T2). 
• Dr. Cuxia Tian (Cincinnati Children’s Hospital) presented a case report from a pair of siblings: the younger brother who started treatment at age four and had early access to clinical trials had notably better outcomes (NSAA 32 at age 9) than his older sibling, who started steroids at age eight (NSAA 14 at age 9).
• Dr. Holly Peay (RTI International) shared results from a collaboration of four Certified Duchenne Care Centers that pooled data on 780 patients. Participants who started steroids older than age five lost ambulation 11 months earlier than those who initiated before age four.
• Benjamin Tan (University of Arkansas for Medical Sciences) reported findings that in his cohort, for every 2-year increase in the age at diagnosis, the odds of losing ambulation increased by 2.6. White race also correlated with increased odds of losing ambulation.

The projects presented at the symposium add to an already-established body of literature suggesting that early treatment extends ambulation, a benefit that may also impact other clinical outcomes such as cardiac and pulmonary health. These advantages will only be equitably accessible to families if everyone has the opportunity of early diagnosis through newborn screening.

As states progress toward adding Duchenne to their newborn screening programs, our wide web of collaborators are already looking beyond the RUSP. We know that states, clinicians, and families need support and resources to optimize newborn screening’s positive impact. Projects are underway to support long-term data collection, hone screening algorithms, and offer guidance for clinical care in infancy.

The recording of the meeting can be found below and we invite anyone with questions to email Katherine Anderson at katherine@parentprojectmd.org.