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Nutrition and Dietary Supplement Interventions for Inborn Errors of Metabolism (NDSI-IEM)

Table of Contents

Overview: NDSI-IEM Program Description
A brief description of NDSI-IEM’s goals, collaborators, and program components.
Background
Inborn Errors of Metabolism (IEM): What they are and why more research is needed on the nutritional interventions that are used.
Mission and Guiding Principles
NDSI-IEM mission statement and guiding principles.
Meetings, Workshops, and Other Activities
Links to meetings, workshops, and other relevant collaborative efforts.
Resources for Researchers
Links to Web sites of federal agencies that contain useful resources for researchers.

Overview

In October 2010, the NDSI-IEM program was launched in the Office of Dietary Supplements (ODS) to explore the research evidence supporting the use of nutrition and dietary supplement interventions for inborn errors of metabolism (IEM) and the infrastructure needed to carry out new research. In collaboration with the Office of Rare Diseases Research (ORDR)external link icon, and with input from a broad range of interested and involved parties, challenges and barriers to conducting research on nutritional treatments for IEM are being identified. Strategies will be developed to support evidence-based research on the safety and effectiveness of nutritional management modalities in IEM.

Background

Nutrition and dietary supplement interventions are the main management strategies for a number of IEM. Many IEM are identified through newborn screening, a successful public health program that screens virtually all newborns in the United States within the first 48 hours of birth (Newborn Screening: The Factsexternal link icon and Discretionary Advisory Committee on Heritable Disorders in Newborns and Childrenexternal link icon). Early identification and treatment of an IEM reduces the medical and developmental problems associated with these conditions. The inherited genetic mutation(s) in each IEM prevent the body from breaking down substances contained in the diet. Infants with these conditions are generally healthy at birth. Symptoms begin to appear when they are exposed to breast milk or infant formula containing dietary components that their bodies cannot use properly. As a result, compounds build up in the blood and brain, leading to undesired health outcomes. These conditions are managed by restricting the offending dietary components and providing nutrients that become deficient due to the limited diet.

Over the past 50 years, technological advances and public demand have led to an increase in the number of conditions screened in the newborn period from one (phenylketonuria, PKU) to over 50 different conditions in some states. Although individuals identified with IEM in infancy are now living into adulthood, the nutritional management that promotes proper growth and development and maintains long-term health for these individuals is not known for many of the conditions.

Additionally, IEM are rare diseases and the nutrition and dietary supplement interventions are regulated as foods, not as drugs. These factors have contributed to the difficulties in conducting research on these management strategies.

Mission and Guiding Principles

Mission: To identify gaps in understanding the safety and effectiveness of nutrition and dietary supplement interventions used to treat individuals with IEM. Through collaboration and partnerships with a wide range of interested parties, this program will develop and implement a plan to conduct evidence-based research to eliminate these gaps.

Guiding Principles

    Guiding Principles
  • To serve individuals from birth into old age.
  • To partner and collaborate with involved and interested parties.
  • To harmonize research-related activities across public and private groups.
  • To educate those who have an impact on the well-being of persons with IEM.
  • To think creatively and consider new approaches to solving problems.

Meetings, Workshops, and Other Activities

In January 2011, federal partners confirmed the need for the NDSI-IEM initiative. As a result, a workshop was held in late 2011 to engage the wider metabolic community and develop a plan to promote evidence-based research of nutrition and dietary supplement interventions used in IEM. Participants represented advocacy and patient organizations; professional associations; companies that make medical foods, prescription drugs, and other nutritional products used in the management of IEM; the Health Resources and Services Administration’s Regional Genetic and Newborn Screening Services Collaborativesexternal link icon; agencies, institutes, and centers within the Department of Health and Human Services; and the metabolic clinical, research, and academic communities.

Resources for Researchers

National Institutes of Health (NIH)external link icon
Extramural research grants are awarded to investigators throughout the United States and abroad. Approximately 10 percent of the NIH budget supports intramural investigators, NIH staff who conduct research.
NIH Institutes and Centers (ICs)external link icon
NIH is made up of 27 ICs, each with a specific research agenda, often focusing on particular diseases or body systems.
Office of Extramural Research (OER)external link icon
OER provides leadership, oversight, tools, and guidance to administer and manage NIH grants policies and operations. OER serves as a link between the NIH and the biomedical research community by guiding investigators through the process of obtaining grant funding.
Funding Opportunities and Noticesexternal link icon
OER (above) maintains a listing of active Requests for Applications (RFAs) and Program Announcements (PAs). The Web site includes links to related resources.
Center for Scientific Review (CSR)external link icon
CSR serves as the central receipt point for most federal grant applications submitted to NIH. CSR assigns the grant application to an NIH Institute and to a Scientific Review Group, also known as a Study Section.
Solicited Grant Applicationsexternal link icon
This resource lists all active RFAs with the ability to browse or search by topic area.
Research Portfolio Online Reporting Tools Expenditures and Results (RePORTER)external link icon
This tool allows users to search a repository of NIH-funded research projects. The information found in RePORTER is drawn from several current databases: eRAexternal link icon [Electronic research administration] databases; Medlineexternal link icon; PubMed Central; the NIH Intramural Database (NIDB)external link icon; and iEdison.external link icon
NIH Grant Writing Tips Sheetsexternal link icon
This resource includes information on choosing an appropriate NIH funding mechanism, peer review guidelines and information, and advice on preparing grant applications.
National Center for Complementary and Alternative Medicine (NCCAM) Tips for New NIH Research Grants Applicantsexternal link icon
This Web site provides tips on grant writing for NIH research applicants.
Glossary of Funding and Policy Terms and Acronymsexternal link icon
This Web site provides a glossary to help research applicants with the NIH application process.
The NIH Clinical Center’s Web siteexternal link icon
The Clinical Center’s Web site provides details on ongoing NIH clinical trials. At this time, use of the Clinical Center is restricted to NIH staff who conduct research and their collaborators. However, NIH may open the Clinical Center to external researchers in the future.
Common Fund Regulatory Science Programexternal link icon
This program fosters development, availability, and evaluation of new or improved ways to understand and improve product safety, quality, effectiveness, and manufacturing throughout the life-cycle of a product.

National Institutes of Health—Rare Diseases

National Center for Advancing Translational Sciences (NCATS)external link icon
NCATS develops new technology that can be transferred through collaborations and licenses to others for further research, development, and commercialization. NCATS strives to develop innovations to reduce, remove or bypass costly and time-consuming barriers in the research process in an effort to speed the delivery of new drugs, diagnostics, and medical devices to patients.
The Office of Rare Diseases Research (ORDR)external link icon
ORDR is organizationally part of NCATS. The goals of ORDR are to identify, stimulate, coordinate, and support research to respond to the needs of patients who have rare diseases.
The Rare Diseases Clinical Research Network (RDCRN)external link icon
RDCRN comprises regional centers working to promote clinical research on diagnosis, prevention, control, and treatment methods for rare diseases. The research projects are designed to improve availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community. RDCRN also aims to provide up-to-date information for patients and to assist in connecting patients with advocacy groups, expert doctors, and clinical research opportunities.
Global Rare Diseases Patient Registry and Data Repository (GRDR)
GRDR provides the rare disease community a resource of collective standardized patient information (unidentifiable), to accelerate research and advance therapeutic development.
Rare Disease-HUB (RD-HUB)external link icon of the Office of Rare Diseases Research (ORDR)
This Web site contains a searchable database of biological specimens collected, stored, and distributed by biorepositories in the United States and around the globe.
Genetic and Rare Diseases Information Center (GARD)external link icon
This Center was established to provide access to information specialists who supply current and accurate information about genetic and rare diseases in both English and Spanish.
Common Fund Undiagnosed Diseases Program (UDP)external link icon
UDP promotes the use of genomic data in disease diagnosis and engages basic researchers to define clearly the mechanisms underlying the diseases so that treatments may be identified.
Therapeutics for Rare and Neglected Diseasesexternal link icon
TRND builds collaborations with NIH, FDA, academic scientists, nonprofit organizations, and pharmaceutical and biotechnology companies to speed development of new therapies.
Cures Acceleration Network (CAN)external link icon
CAN was established to stimulate the development of high need cures for debilitating and life threatening diseases by reducing the number of barriers that investigators face between the time of basic research discoveries and initiation of clinical trials.
Bridging Interventional Development Gaps (BrIDG)external link icon
BrIDG provides successful applicants developing therapeutic agents with access to critical resources in support of preclinical studies.
Discovering New Therapeutic Uses for Existing Moleculesexternal link icon
This initiative is a collaborative pilot program of NCATS designed to develop partnerships between pharmaceutical companies and the biomedical research community to advance therapeutic development.
Tissue Chip for Drug Screeningexternal link icon
This initiative represents an interagency collaboration with Defense Advanced Research Projects Agency (DARPA)external link icon and NCATS.

Food and Drug Administration

FDA Office of Orphan Products Development (OOPD)external link icon
OOPD’s mission is to advance the evaluation and development of products (drugs, biologics, devices, or medical foods) that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions.
The Orphan Drug Act (ODA)external link icon
Through the ODA, FDA grants special status to a product to treat a rare disease or condition upon request of a sponsor. A marketing application for such a product is not subject to a prescription drug user fee unless the application includes an indication for other than a rare disease or condition.
Humanitarian Use Device (HUD) programexternal link icon
HUD was established in 1990 with passage of the Safe Medical Devices Act and creates an alternative pathway for getting market approval for medical devices that may help people with rare diseases or conditions.
The Orphan Products Grants Programexternal link icon
The goal of this program is to encourage clinical development of products for use in rare diseases or conditions. The products studied can be drugs, biologics, medical devices, or medical foods.
FDA Pediatric Device Consortia Grant Programexternal link icon
The goal of this program is to support the development of nonprofit partnership designed to stimulate projects that will promote pediatric device development.