Newborn Screening Saves Lives Act

Chairwoman Cynthia M. Powell, MD, MS, FACMG, FAAP
Advisory Committee on Heritable Disorders in Newborns and Children 
5600 Fishers Lane, Room 18W68 
Rockville MD 20857

February 17, 2021

Chairwoman Powell and Members of the Advisory Committee for Heritable Disorders in Newborns and Children:

The American Society of Gene and Cell Therapy (ASGCT) appreciates the opportunity to comment on your ongoing work to evaluate the RUSP nomination process. ASGCT is a nonprofit professional membership organization comprised of more than 4,500 scientists, physicians, and other professionals working in gene and cell therapy in settings such as universities, hospitals, and biotechnology  companies. Many of our members have spent their careers in this field performing the underlying research that has led to today’s robust pipeline of transformative therapies. A core portion of the Society’s mission is to advance the discovery and clinical application of genetic and cellular therapies to alleviate human disease. Therefore, the accessibility of such therapies to patients is of paramount 
importance to ASGCT, which is facilitated by early diagnosis of conditions that may be treatable by gene therapy and for which earlier diagnosis may lead to improved outcomes.

The Society is supportive of the Newborn Screening Saves Lives Act and of your work to provide actionable diagnoses to children and their families. As sciencecontinues to advance the growing pipeline of gene therapies for inherited disorders into additional FDA-approved treatments, we believe improvements should be made to expedite the process for adding a condition to the Recommended Uniform Screening Panel (RUSP) to enable the newborn screening program to fulfill its promise. 

There are currently over 1,000 gene and cell therapy trials in the United States. ⁱ i American Society of Gene & Cell Therapy. Clinical Trials. Accessed January 31, 2021. Available at: http://asgct.org/clinicaltrials Furthermore, by 2030, 30 non-oncology indications of durable gene and cell therapies for monogenic disorders are projected to be approved from the existing pipeline ⁱⁱ MIT NEWDIGS FoCUS Project. (July 29, 2020). Updated projection of US durable cell and gene therapies product-indication approvals based on December 2019 development pipeline: Ongoing pipeline modeling by the MIT NEWDIGS FoCUS team projects 10X growth from July 2020 levels, but with large uncertainties. NEWDIGS FoCUS. Massachusetts Institute of Technology. Available at: https://newdigs.mit.edu/sites/default/files/NEWDIGS-Research-Brief-2020F207v51-PipelineAnalysis.pdf , including gene therapies for inherited disorders such as AADC (aromatic L-amino acid decarboxylase) deficiency, Duchenne muscular dystrophy, and metachromatic leukodystrophy. These products, if FDA approved or licensed, will be of tremendous value to patients as they may provide one-time treatments of the root cause of disease, some of which are for patients with no current treatment options.

We appreciate the work that the ACHDNC does to evaluate nominations for disorders that should be 
included in the RUSP – the federal standard for which disorders should be screened by states – and that the Committee is evaluating how to improve this process. As you continue these efforts, ASGCT offers the following recommendations:

• Ensure the RUSP keeps pace with treatment approvals. In many cases, ⁱⁱⁱ Kellar-Guenther, Y. et al. Implementing statewide newborn screening for new disorders: U.S. program experiences. (2020). International Journal of Neonatal Screening, 6(35). Available at: https://www.mdpi.com/2409-515X/6/2/35/pdf , ^iv Xu, A., Ganapathy, V., and Morain, S. R. (2018). Delay in state adoption of newborn screening tests. Pediatrics, 141(1). Available at: https://pediatrics.aappublications.org/content/141/1/e2017030 it has taken years between FDA approval and adoption onto the RUSP. While we appreciate that the testing infrastructure needs to be evaluated as well, there should not be a delay in informing states, parents, and physicians that testing for and diagnosing a disease for which the first treatment has been approved or licensed has become actionable. Delays in adoption to the RUSP can delay access to treatment (especially in vulnerable and underserved populations), which may result in lifetime consequences, if parents are unaware of an infant’s genetic disorder.

• Collaborate with and rely upon the FDA. Gaining approval from the FDA is a critical first step to patient access that ensures that new drugs and biologics are safe and effective. The clinical trials process is a rigorous and time-consuming proposition for advances in medicine that, for novel gene therapies, continues through robust post-market monitoring. The ACHDNC should ensure that nominating groups are not being charged with collecting data that are redundant to that which FDA has already reviewed. ASGCT also recommends that the Committee collaborate with FDA to the maximum extent possible under current law. 

• Ensure the process to advance a disorder through the ACHDNC is transparent, predictable, and timely. The current process is difficult to follow for patient groups charged with collecting data, with unclear standards and timelines. Additional guidance documents on standards and allowable collaborations could provide assistance with required data collection. ASGCT and its member scientists stand ready to assist your efforts. Please consider us a resource on the state of the science, the new product pipeline, and scientific and patient-oriented educational materials. 

We look forward to continued engagement.

Sincerely,

David Barrett, JD
Chief Executive Officer