R24AI162637

Severe Chronic Neutropenia International Registry - Project Summary / Abstract

Severe Chronic Neutropenia (SCN) is an immunodeficiency that leads to severe, often life-threatening infections in patients with both congenital and acquired forms of neutropenia. Despite granulocyte colony-stimulating factor therapy, patients remain at long-term, often lifelong, risk of serious infections and additional comorbidities.

The Severe Chronic Neutropenia International Registry (SCNIR) was established in 1994 to study the natural history and clinical consequences of SCN and its treatment. Based on the research resources of the registry, SCNIR investigators have published 255 journal articles, and 41 reviews and book chapters related to SCN. The SCNIR has provided evidence-based clinical guidance, advanced our understanding of neutrophil biology, and broadly informed the care of neutropenia and immunodeficiencies.

Scientific technology developments have opened new opportunities to investigate SCN biology. Ongoing evolution of clinical medicine and diagnostics requires continued reassessment of natural history, treatments, and outcomes. The objective of the SCNIR is to provide a platform to leverage innovations in database science, molecular and computational biology, patient-reported outcomes, and other advances in basic and clinical research to enable discovery of new treatments and inform medical management.

This project builds on the history of productive collaborations within and outside the SCNIR to expand available NIAID resources and provide a model for the study of other immunodeficiencies and rare diseases. Our specific aims are:

Aim 1: Transition the SCNIR database to a hybrid model at Boston Children's Hospital. We will transition SCNIR operations to Boston, with a hybrid data collection system engaging both physicians and patients; collect and analyze patient-reported outcomes for SCN; and develop a pilot project in natural language processing for data extraction and entry.

Aim 2: Generate clinically annotated genomic datasets for translational research in SCN. We will characterize the germline genomic features of chronic neutropenia for the study of genetic interactions, and novel genetic causes of SCN by the research community; characterize the somatic mutational landscape of SCN; and provide resources for innovative translational research and clinical trials.

Aim 3: Provide resources and outreach for education, recruitment, and retention. The SCNIR will engage patients, families, and medical providers to provide education and promote retention and will share expertise and foster collaborations with related patient advocacy and research groups.

Continued operation of this longstanding, productive registry will permit otherwise unfeasible long-term assessments of SCN natural history, generate resources for both clinical and scientific research investigators, and provide up-to-date educational resources and outreach to medical and patient communities.

Children's Hospital Corporation

TO ASSIST PUBLIC AND PRIVATE NONPROFIT INSTITUTIONS AND INDIVIDUALS TO ESTABLISH, EXPAND AND IMPROVE BIOMEDICAL RESEARCH AND RESEARCH TRAINING IN INFECTIOUS DISEASES AND RELATED AREAS, TO CONDUCT DEVELOPMENTAL RESEARCH, TO PRODUCE AND TEST RESEARCH MATERIALS. TO ASSIST PUBLIC, PRIVATE AND COMMERCIAL INSTITUTIONS TO CONDUCT DEVELOPMENTAL RESEARCH, TO PRODUCE AND TEST RESEARCH MATERIALS, TO PROVIDE RESEARCH SERVICES AS REQUIRED BY THE AGENCY FOR PROGRAMS IN INFECTIOUS DISEASES, AND CONTROLLING DISEASE CAUSED BY INFECTIOUS OR PARASITIC AGENTS, ALLERGIC AND IMMUNOLOGIC DISEASES AND RELATED AREAS. PROJECTS RANGE FROM STUDIES OF MICROBIAL PHYSIOLOGY AND ANTIGENIC STRUCTURE TO COLLABORATIVE TRIALS OF EXPERIMENTAL DRUGS AND VACCINES, MECHANISMS OF RESISTANCE TO ANTIBIOTICS AS WELL AS RESEARCH DEALING WITH EPIDEMIOLOGICAL OBSERVATIONS IN HOSPITALIZED PATIENTS OR COMMUNITY POPULATIONS AND PROGRESS IN ALLERGIC AND IMMUNOLOGIC DISEASES. BECAUSE OF THIS DUAL FOCUS, THE PROGRAM ENCOMPASSES BOTH BASIC RESEARCH AND CLINICAL RESEARCH. SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM EXPANDS AND IMPROVES PRIVATE SECTOR PARTICIPATION IN BIOMEDICAL RESEARCH. THE SBIR PROGRAM INTENDS TO INCREASE AND FACILITATE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM STIMULATES AND FOSTERS SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. RESEARCH CAREER DEVELOPMENT AWARDS SUPPORT THE DEVELOPMENT OF SCIENTISTS DURING THE FORMATIVE STAGES OF THEIR CAREERS. INDIVIDUAL NATIONAL RESEARCH SERVICE AWARDS (NRSAS) ARE MADE DIRECTLY TO APPROVE APPLICANTS FOR RESEARCH TRAINING IN SPECIFIED BIOMEDICAL SHORTAGE AREAS. IN ADDITION, INSTITUTIONAL NATIONAL RESEARCH SERVICE AWARDS ARE MADE TO ENABLE INSTITUTIONS TO SELECT AND MAKE AWARDS TO INDIVIDUALS TO RECEIVE TRAINING UNDER THE AEGIS OF THEIR INSTITUTIONAL PROGRAM.

93.855 - Allergy and Infectious Diseases Research

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

Boston, Massachusetts 021155724 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 250% from $1,345,104 to $4,709,229.