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Background Analysis: US HHS Advisory Committee to Discuss Nomination, Review, and Implementation of the RUSP and Rare Disease Registries – MAR 22, 2019 (ACHDNC)

Announcement

The US Department of Health and Human Services (HHS) has scheduled an Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) meeting for Friday, March 22, 2019. The committee will hear from experts in the fields of public health, medicine, heritable disorders, rare disorders, and newborn screening.

Agenda

Tentative agenda topics include: 1) the condition nomination and evidence review process; 2) implementation of conditions on the Recommended Uniform Screening Panel (RUSP); and 3) rare disease registries. Agenda items are subject to change as priorities dictate, and the final meeting agenda will be available on ACHDNC’s website.

Background - Recommended Uniform Screening Panel

Newborn screening (NBS) involves the testing of every newborn for certain conditions, such as hearing loss and certain genetic, endocrine, and metabolic disorders that may not be apparent at birth. It is a State-based public health system that includes education, screening, diagnostic follow-up, and treatment. More than 98% of newborns in the US are screened annually.

In 2006, the American College of Medical Genetics (ACMG) and the Health Resources and Services Administration (HRSA) brought experts together to provide advice on the standardization of the list of disorders for NBS. They recommended a uniform screening panel of 29 core/primary conditions to be included in state NBS panels: 20 inborn errors of metabolism, three hemoglobinopathies, and six other conditions. This panel was endorsed by ACHDNC and designated by the Secretary of HHS as a national standard for NBS programs. It is now known as the Recommended Uniform Screening Panel (RUSP). Since 2006, other disorders have been added to the RUSP.

The RUSP is recommended by the Secretary of HHS for States to screen as part of their State universal NBS programs. It is recommended that every newborn be screened for all disorders on the RUSP. In practice, most States screen for the majority of disorders on the RUSP, and some States also screen for additional disorders.

Nominations of additional conditions for inclusion in the uniform panel can come from individuals and organizations with expertise on the nominated condition. The ACHDNC reviews the nominations, following a systematic, evidence-based protocol. The overarching criteria are: there is a potential benefit of routinely screening all newborns for the disorder; public health laboratories have the ability to perform the test for the disorder; and there is the availability of effective treatments for the disorder. The ACHDNC provides recommendations to the Secretary of HHS, who makes the final determination on additions of disorders to the RUSP.

Background – Rare Disease Registries

The committee will discuss rare disease patient registries. The definition of a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for population defined by a particular disease, condition, or exposure and that serves one or more predetermined scientific, clinical, or policy purpose(s). Registries are generally defined either by diagnosis of a disease (disease registry) or usage of a drug, device, or other treatment (exposure registry).

Regulatory professionals are typically familiar with the possibility that FDA may require that a sponsor conduct an exposure registry as a condition of approval (a.k.a. postmarketing requirement). Exposure registries are commonly used to follow patient outcomes after a drug is approved for use in the real world, as opposed to patient outcomes from the controlled setting of clinical trials. Sometimes exposure registries may apply only to a subpopulation (e.g. pregnant women, elderly patients) and/or a particular outcome of interest.

Patient registries were last discussed by the ACHDNC in August 2018 in the context of needed improvements in long-term follow-up (LTFU) of NBS. The committee supported expanding the use of patient registries to advance LTFU.

Many people in the rare disease community, including regulators, have expressed an interest in using patient registry data as a comparator arm for trials that would otherwise need to be single-arm trials (for ethical and/or feasibility issues).

The FDA meeting announcement did not elaborate, other than to say “rare disease registries” is an agenda topic.

What’s Next?

Tarius will send a Results Wire soon after the meeting. This report will include the voting outcomes, if applicable, and key outcomes of the discussion.

METADATA: Sponsor: none Drug Name: none Drug Class: none Indication: none


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DISCLAIMER: The information in this document is for informational purposes only. The SAC Tracker Background Analysis contains information from publicly available sources, including FDA, sponsor, scientific, and clinical websites. Tarius A/S assumes no liability for any inaccurate or incomplete information, or for any actions taken in reliance thereon. © Tarius A/S. All rights reserved.