R24AI171055

USIDNET: A Resource for Clinical Immunologists - Abstract

The United States Immunodeficiency Network (USIDNET) has been continuously funded as a resource for clinical immunologists since 1992. It has evolved from single diagnosis registries to a panel of research resources. These resources include a robust diverse patient registry with quality of life, laboratory, and clinical features; patient cell lines; and a variety of educational efforts.

In 2017, the registry converted the data to SNOMED and LOINC terms, ushering in an era characterized by data standards and interoperability. Currently, the registry holds complex phenotype data on over 5000 patients with over 3000 discrete data fields. Genetic information is available on over 2000 patients.

Under a new funding mechanism, USIDNET is poised to further enhance resources by incorporating and improving the state of genetic diagnostics for inborn errors of immunity. The central goal is to serve as a nexus of information on genotype and phenotype. The USIDNET registry will continue to serve a critical need by defining phenotypes and propelling improved outcomes research with enhanced longitudinal data.

This evolution renders additional technical innovations possible in a manner that will serve community needs identified through discussion and a survey. The program has six aims, all derived from the central registry effort. The new registry will be anchored by a semi-automated data extraction from participating sites to maximize data standardization and longitudinal collection. Input of genetic data will be standardized, and next-generation sequencing will be offered to patients who otherwise cannot have sequencing, to improve the richness of genetic data in USIDNET and to nucleate a "matchmaking" effort.

The six aims are interwoven to support improved data and utilization. In Aim 1, a protocol for direct data extraction will be developed, which can be shared across institutions. Additionally, a single Institutional Review Board (IRB) will be instituted to facilitate regulatory compliance. Aim 2 focuses on developing improved guidance for registry utilization, providing statistical support for end users, and spearheading studies of high impact, as defined by the steering committee. Aim 3 proposes an innovative use of data to connect investigators who have similar patients through a specific matchmaking approach.

In Aim 4, USIDNET data will be utilized to augment efforts to enrich immunology HPO terms and ClinGen entries. Aim 5 aims to galvanize successful dissemination efforts, develop a newsletter with structured features to improve clarity, and enhance material on the USIDNET website. Lastly, Aim 6 aims to formalize mentoring efforts to strengthen the research skills of the next generation and provide career mentoring.

These resources will provide pivotal information for the immunology community at a time when the wealth of new monogenic inborn errors of immunity have made clinical decision-making far more complex and uncertain. This new R24 builds on previous successes in defining phenotypes in inborn errors of immunity, improves data collection, and utilizes the data in new ways to support the community.

The Children's Hospital Of Philadelphia

NOT APPLICABLE

93.855 - Allergy and Infectious Diseases Research

National Institute of Allergy and Infectious Diseases (NIAID) [HHS - NIH]

Philadelphia, Pennsylvania 191462305 United States

Single Zip Code

NIAID Resource-Related Research Projects (R24 Clinical Trial Not Allowed) (PAR-20-063)

Amendment Since initial award the total obligations have increased 211% from $1,349,311 to $4,192,025.