Texas Senate Bill 10 44 aims to add Duchenne screening to newborn tests

The Senate Committee on Health and Human Services convened on April 2, 2025, to discuss critical health issues, including the proposed addition of Duchenne muscular dystrophy (DMD) to Texas's newborn screening program. The meeting highlighted the urgency of early diagnosis and intervention for this rare genetic disorder, which predominantly affects males and leads to progressive muscle deterioration.

The discussion began with a presentation on the nature of Duchenne muscular dystrophy, a fatal condition caused by the absence of dystrophin, a protein essential for muscle function. It was noted that the average age of diagnosis is currently five years, often occurring two and a half years after symptoms are first noticed. This delay results in irreversible muscle damage, underscoring the need for timely screening.

Senate Bill 10 44 was introduced to expedite the inclusion of DMD in the newborn screening panel, which would allow for earlier diagnosis and access to treatment options. Currently, five therapies have been approved by the FDA, with over 40 investigational therapies in development. The bill aims to leverage recent technological advancements, including an FDA-approved laboratory test that utilizes blood spots collected at birth.

Senator Parker expressed concerns regarding the fiscal implications of the bill, noting the significant investment required for new laboratory facilities and staff. However, he emphasized the importance of accurate cost assessments and the potential for existing resources to be utilized effectively.

Expert testimony was provided by pediatric neurologist Ashley Stanley Copeland, who advocated for the bill, highlighting the benefits of early diagnosis, including access to specialized care and participation in clinical trials. She pointed out that early intervention could significantly improve outcomes for children with DMD.

Rosalia Sandoval, a mother of a child with Duchenne, shared her personal experience with the lengthy and challenging diagnostic process. She emphasized the emotional and financial toll on families and advocated for the bill as a means to provide equal access to screening and improve the quality of life for affected children.

The committee members engaged in discussions about the bill's implications and the importance of aligning Texas with other states that have already implemented similar screening programs. The meeting concluded with a call for support for Senate Bill 10 44, aiming to ensure that all newborns in Texas have the opportunity for early detection and intervention for Duchenne muscular dystrophy.