Request for Information (RFI): Needs for and Impediments to the Development of a Research Database to Facilitate Down Syndrome Research

Notice Number: NOT-HD-11-002

Key Dates
Release Date: February 2, 2011
Response Date: April 1, 2011

Issued by
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)


The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) recognizes that centralized or collaborative research databases can contribute to the advancement of many aspects of research in intellectual and developmental disorders, particularly Down syndrome (DS).
Further, the NICHD also recognizes that research and advocacy communities form a variety of partnerships that may engage different communities of individuals to advance such research. Contact registries, research databases, and biobanks are elements in this process, not goals in themselves, and may be linked virtually to other elements of the research enterprise and to each other. This Request for Information (RFI) serves to gather information about research databases from research, advocacy, and other stakeholder communities.


Down syndrome (DS) usually results from three copies of the entire of human chromosome 21 (Trisomy 21) and occurs in 1:700-1:800 live births each year. Although DS is not a rare disorder, identifying individuals with DS and their families who would participate in basic and clinical research through inclusion of information (obtained from self- or family report of demographics) and data (obtained from electronic or standard medical records, researcher contributed data and clinical or experimental data) in centralized or collaborative research database(s) has been difficult.

Contact registries are often created and maintained by the advocacy community or through contracts by the NIH for specific disease entities. Generally, patient contact registries allow individuals with specific diseases and their families to register themselves so that they can be contacted in the future about clinical research opportunities and updates on the progress of the research projects. Such contact registries help researchers identify and recruit individuals who are eligible to participate in future research efforts. This need for contact registries for DS has been underscored by the concerns of participants in two recent meetings, a Down Syndrome Registry Meeting sponsored by the National Down Syndrome Society in September, 2010, and Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks, sponsored jointly by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the Global Down Syndrome Foundation in December, 2010. The NICHD recognizes that the DS advocacy community has already made significant strides towards the creation of a contact registry relevant to engaging DS individuals and their families in basic, clinical, and translational research. However, significant issues remain with regard to research databases and biospecimens repositories. With regard to research databases, the NICHD recognizes several goals for these resources.

Biobanks are created by various private and advocacy entities to collect, catalog, store and distribute specific tissues and fluids to approved members of the basic and clinical research communities. A separate RFI (NOT-HD-11-001) serves to gather information relevant to biobanks (a Down Syndrome Tissue Repository) to facilitate and accelerate DS research and treatment.

During the past 30 years, a major positive impact on the quality of life for people with DS and their families has resulted from a combination of community living rather than institutional care, early and continuing access to clinical interventions, and overall improvements in population health in developed countries. However, what is now needed is a reappraisal of thinking by clinicians, researchers, caregivers, self-advocates and families of individuals with DS to focus on medical and social issues of individuals with DS and their families. Information about the natural history of DS throughout the lifespan is generally fragmented and held in the databases of individual clinicians and investigators. There is no centralized or consolidated research database to better understand life transitions that occur in the natural history of DS throughout the lifespan, and the clinical and medical factors that affect morbidity and mortality.

Most existing databases systematically collect, store, catalog, preserve, and distribute such collected information to qualified scientific investigators. However, the approach to these activities by individual researchers lacks standards and practices and policies vary widely from investigator to investigator or from varied teams of investigators with similar research interests. To facilitate collaborative research and enhance the ability of such databases to serve a diverse set of constituents, NICHD is evaluating existing databases and considering the possibility of new approaches to acquiring, storing, and providing access to these important and valuable resources, through collaborations and partnerships with other organizations, foundations, and/or groups.

Ideally, the informatics infrastructure for such a research database should be easy to set up, use, and administer by investigators. The database should support a wide variety of services, such as data de-identification and multisite data collection, as well as the creation of a Global Unique Identifier (GUID).

Researchers are poised to make novel and clinically relevant research discoveries utilizing information and data housed in their respective research databases that they could share in a centralized facility or a group of individually identified consortia. The NICHD requests information about opportunities to extend and enhance these resources, including collaborations and partnerships with other governmental and non-governmental organizations and groups.

Information Requested

The NICHD invites public input in several areas; fell free to respond to as many as you wish:

  1. Governance and Ethical Issues of a Research Database for DS

    Interested parties may wish to comment on:

    • How should governance be handled and by whom?
    • Who should participate in the review committee that determines investigator access to the data (e.g., Project Review Committee)?
    • Who should serve as the steward of the research database(s)?
    • How should governmental agencies like NIH and the CDC be involved?
    • How should IRB/consent and ethical issues be handled and by whom?
    • Should consent/assent be obtained over the telephone?
    • How should GUIDs be assigned and utilized?

  2. Engaging Stakeholders and Families in Research and Clinical Trials

    Interested parties may wish to comment on:

    • What is the most effective way to engage stakeholders?
    • How can adults with DS be encouraged to participate in research databases?
    • What should individuals with DS and their families get from participating in the research database, if anything?
    • Should an independent website be used with public access?
    • Should an auto report function (indicating successful registration) be an essential part of the registration process?
    • Who should notify families of their eligibility for enrollment in particular research studies or clinical trials?

  3. Structure of a Research Database for DS

    Interested parties may wish to comment on:

    • What common data elements should be ascertained?
    • Who should create the defined data dictionary and data fields?
    • What demographic data should be obtained?
    • What platforms should be used? Should the data be open source?
    • What are the current state of the art standards for a linked research database?
    • How should the data be entered?
    • Who should curate the quality of the data?
    • Should the research database create a toolbox that investigators could utilize?
    • In what language(s) should the registry acquire data?
    • How should transparency be maintained and fostered, while protecting patient confidentiality?
    • Should the research database offer access to DS specialty clinics that currently exist?
    • How should information about ongoing research or clinical trials be displayed on the website?
    • How should ethnic and minority participation be encouraged?
    • How should siblings be effectively engaged?
    • Who should have access to data and in what format?
    • Who should approve access to the resources?
    • Should email blasts be used to inform participants of ongoing research?
    • How should those who lack Internet access join the research database?
    • How could a research database be made international? Who should own the data and information in the research database?
    • How should bottlenecks be eliminated or reduced?

  4. Eligibility for Participation in a DS Research Database and Linkage to a Contact Registry

    Interested parties may wish to comment on:
    • How should individuals in a contact registry be linked to the DS research database?
    • How should the registry be structured to facilitate activities of a research database?
    • Who should support the maintenance of the database, and in a cost-effective manner?
    • What sort of marketing strategy should be utilized to continue the registry and the research database?
    • What should form the basis of financial support?
    • Should there be a subscription fee or will the research database be self sufficient?

How to Submit a Response

Reponses will be accepted until April 1, 2011. All responses must be submitted via email to: Please include the notice number NOT-HD-11-002 in the subject line and include your complete contact information with your response. The submitted information will be reviewed by the Trans-NIH Down Syndrome Working Group. Submitted information will not be considered confidential.

This request is for information and planning purposes only and should not be construed as a solicitation or as an obligation on the part of the Federal Government, the National Institutes of Health (NIH), or the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The NICHD does not intend to make any awards based on responses to this RFI or to otherwise pay for the preparation of any information submitted or for the Government's use of such information.

NICHD will use the information submitted in response to this RFI at its discretion and will not provide comments to any responder’s submission. However, responses to the RFI submitted may be reflected in future solicitation(s). NICHD may contact any responder for the sole purpose of enhancing NICHD’s understanding of your RFI submission. The information provided will be analyzed and may appear in reports. Respondents are advised that the Government is under no obligation to acknowledge receipt of the information received or provide feedback to respondents with respect to any information submitted. No proprietary, classified, confidential, or sensitive information should be included in your response. The Government reserves the right to use any non-proprietary technical information in any resultant solicitation(s).


Mary Lou Oster-Granite, PhD
Health Scientist Administrator
Chair, Down Syndrome Working Group
Intellectual and Developmental Disabilities Branch (IDD)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institutes of Health (NIH), Department of Health and Human Services (DHHS)
6100 Executive Boulevard
Room 4B05L, MSC 7510
Bethesda, MD 20892-7510
EXPRESS/COURIER: Rockville, MD 20852
Phone: 301-435-6866
Fax: 301-496-3791