[Federal Register Volume 90, Number 243 (Monday, December 22, 2025)]
[Notices]
[Pages 59847-59848]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2025-23574]


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DEPARTMENT OF HEALTH AND HUMAN SERVICES

Health Resources and Services Administration


Addition of Metachromatic Leukodystrophy to the Recommended 
Uniform Screening Panel

AGENCY: Health Resources and Services Administration (HRSA), Department 
of Health and Human Services.

ACTION: Notice.

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SUMMARY: The Health Resources and Services Administration (HRSA) 
published a Federal Register notice on August 14, 2025 (90 FR 39196), 
requesting comments from the public on the potential recommendation of 
adding Metachromatic Leukodystrophy (MLD) to the Recommended Uniform 
Screening Panel (RUSP). After consideration of public comments and 
evidence-based reports, HRSA recommended to the Secretary of Health and 
Human Services (HHS) that MLD be added to the RUSP. The Secretary of 
HHS has accepted the recommendation as detailed in this notice. 
Conditions listed on the RUSP are part of the evidence-informed 
preventive health guidelines supported by HRSA for infants, children, 
and adolescents. Non-grandfathered group health plans and group health 
insurance issuers are required to cover screenings included in these 
HRSA-supported comprehensive guidelines without cost-sharing (e.g., 
copayment, co-insurance, etc.). Please see the RUSP (https://newbornscreening.hrsa.gov/about-newborn-screening/recommended-uniform-screening-panel) for additional information.

FOR FURTHER INFORMATION CONTACT: CDR Leticia Manning, Newborn Screening 
Team Lead, Division of Services for Children with Special Health Needs, 
Maternal and Child Health Bureau, HRSA, 5600 Fishers Lane, Rockville, 
Maryland 20857 or [email protected].

SUPPLEMENTARY INFORMATION: The RUSP is a list of conditions that the 
Secretary of HHS recommends for states to screen as part of their state 
universal newborn screening (NBS) programs. Conditions on the RUSP are 
chosen based on evidence that supports the potential net benefit of 
screening, the ability of states to screen for the disorder, and the 
availability of effective treatments. Although states ultimately 
determine what conditions their NBS program will screen for, it is 
recommended that every newborn be screened for all conditions on the 
RUSP. Conditions listed on the RUSP are part of the comprehensive 
preventive health guidelines supported by HRSA for infants, children, 
and adolescents under section 2713 of the Public Health Service Act. 
Non-grandfathered group health plans and health insurance issuers are 
required to cover screenings included in these HRSA-supported 
comprehensive guidelines without charging a co-payment, co-insurance, 
or deductible for plan years beginning on or after the date that is one 
year from the Secretary's adoption of the condition for screening.
    The Advisory Committee on Heritable Disorders in Newborns and 
Children (ACHDNC), now inactive, was tasked with reviewing available 
scientific evidence and then making recommendations to the Secretary of 
HHS regarding what conditions should be on the RUSP. When a condition 
is nominated, ACHDNC determines whether there is sufficient evidence 
available for early screening and refers it to ACHDNC's Evidence Review 
Group (ERG). The ERG is responsible for identifying and assessing all 
available evidence and summarizing for ACHDNC the strength and 
effectiveness of the evidence found on the net benefit of screening, 
the ability of states to screen for the condition, and the availability 
of effective treatments. The ERG completed an evidence review for MLD. 
Following the completion of the evidence review for MLD, but prior to 
issuing a recommendation to the Secretary on the inclusion of MLD to 
the RUSP, the ACHDNC was terminated.
    The condition for addition, MLD, is a rare genetic condition that 
leads to progressive motor and brain damage. Children with early-onset 
forms of the condition who do not receive treatment before symptom 
onset experience motor function loss/paralysis and neurological 
impairment followed by death at 5-6 years of age. Gene therapy is 
extremely effective if started early in life, with those who were 
placed on the earliest treatment pilots continuing to live into their 
mid-teen years today.

Summary of Public Comments

    A Federal Register notice sought public comment on the potential 
recommendation of including or not including MLD on the RUSP. HRSA 
requested that the respondents consider the ERG's report summary on MLD 
and the suitability of state NBS programs screening for MLD within the 
newborn period in their response. HRSA considered all public comments 
as part of its deliberative process along with review of the completed 
MLD evidence review report prior to making a recommendation to the 
Secretary of HHS. A total of 98 respondents commented on the inclusion 
of MLD on the RUSP. Of these, 96 responses (98 percent) expressed 
support to add MLD to the RUSP, 1 response (1 percent) opposed its 
addition, and 1 response (1 percent) provided feedback on awaiting 
results from pilot studies and early adopting states to inform 
implementation. The responses in support of or against adding MLD to 
the RUSP are summarized below.

Comments on Adding MLD to the RUSP

    The majority of respondents (96 responses or 98 percent) described 
benefits of adding MLD to the RUSP including highly accurate screening 
for MLD with minimal false positives, if any; an FDA-approved gene 
therapy proven to prevent symptoms if administered before onset of 
disease; and early diagnosis can save lives of children with MLD.
    The respondent that opposed adding MLD to the RUSP cited resource 
challenges for implementing MLD screening in public health laboratories 
and the high cost of treatment as reasons why MLD should not be added 
to the RUSP. However, HRSA notes that adding a condition to the RUSP 
does not require states to implement screening immediately. States 
determine their

[[Page 59848]]

resource allocations for NBS screening based on their specific state 
budget and public health priorities.
    After consideration of the evidence review report and public 
comments, no changes were made to the recommendation and HRSA 
recommended to the Secretary of HHS that MLD be included for addition 
to the RUSP.

Acceptance of Recommendation

    On December 16, 2025, the HHS Secretary accepted HRSA's 
recommendation. The RUSP is updated and can be accessed at the 
following link: https://mchb.hrsa.gov/programs/newborn-screening.

Thomas J. Engels,
Administrator.
[FR Doc. 2025-23574 Filed 12-19-25; 8:45 am]
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