SMA is Submitted to the Federal Newborn Recommended Uniform Screening Panel (RUSP)

Cure SMA and the SMA Newborn Screening Coalition are excited to announce we have completed the submission of SMA to the Recommended Uniform Screening Panel (RUSP). Administered by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), part of the Department of Health and Human Services, the RUSP is a list of conditions that all newborns in the US are recommended to be screened for.

The RUSP application was prepared and submitted by a newborn screening working group comprised of staff and members of the board of directors of Cure SMA, representatives from Muscular Dystrophy Association, and a panel of SMA clinicians and researchers.

Submission to the RUSP is a critical first step toward our goal of having SMA added to newborn screening programs across the US. Approval of this submission will clear the way for states to implement the recommendation and begin screening for SMA. Most states also have their own process for evaluating which diseases are included on their newborn screening panels, so advocacy at the state level will continue to be important even if SMA is added to the RUSP.

Next Steps

The SACHDNC will review the application. At the upcoming May meeting, they will make their first comments and indicate a timeline for review, which can take at least a year from start to finish.

In review, the committee will be evaluating the submission based on several criteria. They are looking to see that:

  • There is strong natural history data indicating the normal progress of SMA. 
  • There is an approved treatment for SMA. 
  • There is evidence that pre-symptomatic treatment for SMA will be effective. 
  • The application is supported by pilot screening data from one or more state labs. 
  • There is a reliable diagnostic test for SMA that can be given on a broad scale. 

The SMA Newborn Screening Coalition will support the RUSP application through continued testimony before the SACHDNC. In addition, the coalition is actively working on other aspects of newborn screening advocacy. These activities include working with Congress to secure appropriate funding for newborn screening, as well as federal- and state-level grassroots advocacy to ensure implementation.

Members of the SMA Newborn Screening Coalition include representatives from pharmaceutical companies Biogen and AveXis, and staff members from Cure SMA, with guidance from representatives from the District Policy Group, a DC-based public policy firm that provides advocacy support to Cure SMA.

Get Involved

As newborn screening for SMA continues to move forward, and particularly as state-level efforts get underway, we will need “SMA champions” in all 50 states to help advocate on behalf of our community. If you are interested in receiving periodic updates on how you can get involved in these efforts, email [email protected].

Thank You

We would like to acknowledge members of the working group who invested significant time and lent their expertise to this application.

Jill Jarecki, PhD
Chief Scientific Officer
Cure SMA

Jackie Glascock, PhD
Scientific Program Manager
Cure SMA

Mary Schroth, MD
Medical Director
Cure SMA

Spencer Perlman
Cure SMA Board of Directors

Corey Braastad, PhD
Cure SMA Board of Directors
VP and GM of Genomics
Covance Drug Discovery

Katherine Klinger, PhD
Cure SMA Board of Directors
Global Head Translational Sciences
Sanofi Genzyme

Douglas Kerr, MD, PhD, MBA
Cure SMA Board of Directors
Global Development Lead-Vice President, Neurology Research & Development

Amanda Haidet-Phillips, PhD
Scientific Program Officer
Muscular Dystrophy Association

Kristin Stephenson
Vice President Policy & Advocacy
Muscular Dystrophy Association

Rodney Howell, MD
Chair of the Board, Muscular Dystrophy Association (MDA)
Chair Emeritus Pediatrics, Professor of Pediatrics
University of Miami School of Medicine

Tom Crawford, MD
Professor of Neurology
John Hopkins School of Medicine

John Day, MD, PhD
Professor of Neurology, Pediatrics (Genetics), and by courtesy, Pathology
Stanford University Medical Center

Tom Prior, PhD
Professor, Department of Pathology
Ohio State University

Jacinda Sampson, MD, PhD
Clinical Associate Professor, Neurology and Neurological Sciences
Stanford University Medical Center

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