The U.S. Department of Health and Human Services (HHS) has approved the addition of Duchenne muscular dystrophy (DMD) and metachromatic leukodystrophy (MLD) to the Recommended Uniform Screening Panel (RUSP).
DMD and MLD
DMD is a rare genetic, neuromuscular condition characterized by progressive muscle wasting. DMD occurs primarily in males, though in rare cases may affect females. The symptoms include progressive atrophy of both skeletal and heart muscle, delayed ability to sit, stand, or walk and difficulties learning to speak. DMD is caused by genetic changes in the DMD gene.
MLD is a rare inherited condition characterized by the accumulation of sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is caused by genetic changes in the ARSA and PSAP genes.
The RUSP is the list of conditions the HHS secretary recommends for universal newborn screening. Most children with these conditions are diagnosed once significant muscle loss or functional decline has already occurred. Early detection will provide more timely and effective care to better slow disease progression and preserve quality of life.
RUSP approval follows a rigorous external expert scientific evidence and public-health review conducted by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). This process evaluates the strength of the screening test, the availability and effectiveness of treatment, the feasibility of nationwide implementation, and the expected impact on health outcomes.
PPMD and MDA on the RUSP Addition
Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA) are two patient advocacy organizations who have been instrumental in having DMD added to the RUSP.
In a joint statement, the organizations noted they remain “committed to ensuring that this recommendation is implemented effectively and equitably across all 50 states. Families and advocates are encouraged to join ongoing efforts to support state-level implementation.”
MLD Foundation on the RUSP Addition
The MLD Foundation is a patient advocacy organization founded by Dean and Teryn Suhr in 2001. The group worked for over 19 years to gain an FDA approved treatment for MLD in 2024, and 17 years for this RUSP approval.
The foundation notes that once all states, territories, and tribal nations have launched MLD newborn screening, an estimated one baby every week will be saved.
To learn more about the journey to RUSP approval, watch this interview with Dean Suhr https://youtu.be/VTf4geF3P_Q?t=133
