Research Review Policy

Overview

DS-Connect® brings the experiences and medical information reported by those living with Down syndrome across the age spectrum to the research and advocacy community.

DS-Connect® is a centralized registry resource to better understand the health characteristics and needs of people living with Down syndrome. DS-Connect® makes the de-identified data collected by the registry available to any researcher, clinician, or other qualified professional interested in Down syndrome through the Professional Portal.

Examples of uses of the data from the registry include:

  • Recognize the health characteristics of those living with Down syndrome
  • Identify medical needs among those living with Down syndrome
  • Determine study feasibility and plan for clinical trials and research studies
  • Assist with recruitment for studies and surveys
  • Use the registry to post study notices

Background

The National Institutes of Health (NIH) has worked with the Down syndrome scientific and family communities on the various goals of the NIH Research Plan on Down Syndrome (DS), first published in 2007. In 2011, the NIH created the Down Syndrome Consortium to foster communication and idea-sharing among NIH, individuals with Down syndrome and their families, national and international organizations interested in Down syndrome, and pediatric and other groups. One of its first activities was to discuss the creation of a Down syndrome registry, now called DS-Connect®: The Down Syndrome Registry. Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) within the NIH, DS-Connect® has as one of its goals the collection of information to promote research focused on the many issues of concern within the Down syndrome community.

There are two Boards that provide oversight for DS-Connect®. Their membership is listed on the DS-Connect® website under “Who We Are.” The DS-Connect® Operations Board oversees the day-to-day activities of the Registry, develops surveys, and makes decisions about access to Registry information. It also works with the DS-Connect® registry coordinators ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) to decide when to send out notices and other information. The DS-Connect® Governance Board makes decisions about the overall policies and procedures that govern the DS-Connect® Registry.

The purpose of the DS-Connect® Registry is to store health and other basic information about people with DS in a secure online format. This information can be used by scientists, health care providers, members of DS organizations, industry representatives, research foundation members, and other professionals to develop research projects and recruit for clinical trials, while still protecting the privacy of the registry participants.

The registry has established three “levels of access” to reflect the differing needs of professional users because projects vary in the types of information required and in their need to have access to participants.

Levels of Access to Registry Data

A professional will be able to use DS-Connect® to:

  • View aggregate de-identified registry data
  • Perform advanced searches of the registry data
  • Receive custom data reports
  • Use registry data in a public presentation or publication
  • Propose new survey modules or tools
  • Request a letter of support for a research study
  • Recruit subjects through DS-Connect® for research or a clinical trial
  • Post notices about clinical studies on DS-Connect®
  • Use registry data for an industry purpose

There are 3 levels of access to the DS-Connect® registry data.

Access Level 1: No formal administrative review is required for this level of access.
This level of access is for investigators who want to view aggregate, de-identified data (what participants see, e.g. charts and graphs using basic filters such as gender and age ranges) or who want to review the survey questions and content. This level can also be used to perform some detailed searches (search results that return more than a minimum threshold of ~10 individuals) but not see row-by-row individual participant data. Professionals with this level of access can use multiple filters simultaneously to view the registry data. Required information includes: Name of Principal Investigator/Requestor(s); Name of the institution, organization, or company; Title, role or occupation; Professional email address; Contact phone number; and other basic information.

Registered users with level 1 access can login to view the current registry data (see example below) on the Registry Data section of the website:

Users with level 1 access can also perform complex searches of the de-identified registry data (see example below):

Access Level 2: Administrative review is required for this level of access. (Level 1 access is required to request level 2 access)
In general, level 2 access would require approval from the DS-Connect® coordinator (and in some cases, from the Research Review Committee). This level of access is for investigators who want to perform customized searches, propose new survey modules, request a letter of support, or view aggregate, de-identified data and receive csv/excel reports of row-by-row de-identified participant data to perform statistical evaluation for analysis, publication or presentation. In these cases, professional registrants will most likely need to consult with the DS-Connect® registry coordinator to perform complex searches or to plan future research studies.

Access Level 3: Administrative review and Research Review Committee review is required for this level of access. (Level 1 access is required to request level 3 access)
Professionals who request level 3 access will need to provide more details of the proposed study, including IRB status, inclusion/exclusion criteria, and sample study notices. This will require approval by the Research Review Committee. This level of access is for an investigator who wants to post a study announcement on the DS-Connect® website, recruit subjects for a research or clinical study through the DS-Connect® registry coordinator, or who wants to use the data for a commercial purpose.

Research Review Committee

The DS-Connect® Research Review Committee (RRC) comprising members of the DS-Connect® Registry Operations Board, the DS Consortium, and other ad hoc members (as determined by the chair and/or other RRC members), will oversee access and use of the registry data for level 3 purposes. The purpose of this committee is to establish the criteria for gaining access to the registry and to protect the interests and privacy of the participants. Specifically, the committee will review all requests to post study notices or research announcements, to recruit participants into studies, or for commercial uses of the data (level 3 access). The committee will review some requests to collect new survey information, access de-identified, individual-level data, request a letter of support, or perform customized searches (level 2 access) depending on the outcome of the administrative review. The committee will monitor publications that use the registry data to track the dissemination of registry results and to evaluate the value of DS-Connect®. The committee will maintain representation from DS organizations, research institutions, government, and other stakeholders.

The Research Review Committee is composed of the following current members:

  1. Peter Bulova, M.D. (Director, University of Pittsburgh Adult Down Syndrome Center)
  2. Priya Kishnani, M.D., M.B.B.S (Division Chief, Medical Genetics, Duke Department of Pediatrics, Duke University School of Medicine)
  3. Stephanie Sherman, Ph.D., DS-Connect® RRC Chair (Professor, Emory University Department of Human Genetics)
  4. Wayne Silverman, Ph.D. (Director, Intellectual Disabilities Research, Kennedy Krieger Institute)
  5. Sujata Bardhan, Ph.D. (ex officio)—non-voting (DS-Connect® Registry Coordinator, NICHD, NIH)
  6. Melissa Parisi, M.D., Ph.D. (ex officio)—non-voting (Chief, Intellectual and Developmental Disabilities Branch, NICHD, NIH)
  7. DS Consortium member (Marilyn Bull, M.D., FAAP, Board of Directors, American Academy of Pediatrics)
  8. A family member of a person with Down syndrome.
  9. Other ad hoc member(s) if specialty expertise is needed.

It is expected that the membership of this committee will rotate in a staggered manner, with terms lasting approximately 1-3 years, and with the initial term not to exceed 3 years. The Registry Governance Board will also have input in the selection of members for this committee.

Administrative Review Criteria and Process

An administrative review of the application will be completed once the required information and materials have been submitted for access levels 2 or 3; access level 1 is provided without formal review. Applications will be reviewed for merit and potential to contribute to advancing knowledge about DS and/or improving quality of life for those with DS while not representing an undue burden for participants and their family members. In addition, the funding source, feasibility of the project, and intended use of requested information will be taken into consideration, without inhibiting the ability of researchers to use the Registry.

Criteria for review and acceptance:

  1. Scientific merit (including previous scientific review and approval)
  2. Qualifications of the investigator(s)
  3. Institutional/organizational environment
  4. IRB approval for all studies involving human subjects
  5. Potential benefits and risks
  6. Balance of participation effort and compensation
  7. Funding status and source

Review Process by Research Review Committee (RRC)

(for all access level 3 requests and some access level 2 requests)

  1. The anticipated time from submission to notification of decision will be approximately 4-8 weeks. All reasonable attempts will be made to adhere to this timeline.
  2. Submitted applications will be screened by the DS-Connect® registry coordinator(s) for missing information and assigned for preliminary review.
  3. Applications will undergo a rapid initial review by two members of the Research Review Committee to determine the need for full committee versus expedited review.
  4. If both reviewers agree that an expedited review is adequate and approve the request, the request can be processed within 2 weeks of submission.
  5. If both of the initial reviews are unfavorable, the application will be returned to the requestor with feedback and an opportunity to revise and resubmit (if deemed appropriate).
  6. If one or both reviewers recommend a full review, the full RRC will review and vote on whether the application will be accepted. A quorum of 4 voting members (not including the registry coordinators) is necessary to vote, and a majority vote is necessary to accept the application. The committee may meet virtually and vote by phone or on-line.
  7. Feedback will be supplied to the requestor by the registry coordinator, including anticipated timelines for approved request completion (e.g. time frame for providing data files or sending out a recruitment notice).
    Note: All applications that require recruitment of individuals with DS using the registry will be reviewed by the full RRC.

Special Circumstances

These policies are intended to serve as a guide for the routine access and use of registry data. It is recognized that not every circumstance that might arise can be anticipated. Any requests for consideration of special circumstances or exceptions to the stated policies must be presented to the DS-Connect® Research Review Committee for consideration. In the event of any dispute arising from the decisions of the RRC, an appeal can be presented to the Registry Governance Board, which will have final judgment on data access and use in such cases.

Level 2 Access: Custom Searches and Raw Data Reports

Users who want to review specialized custom reports requiring complex searches to define aggregated data or de-identified individual row-by-row data from the registry should request level 2 access.

How to Request Customized Data Reports or a Letter of Support

The registry coordinator(s) and/or Research Review Committee will review requests for customized data reports that may include individual row-by-row data that are de-identified. Letters of support for a specific research project or proposal can also be requested via access level 2. In addition to the information entered when the professional signed up for Level 1 access to the registry, the investigator will provide the following information to the DS-Connect® registry coordinators:

  1. Investigator(s) biosketch/CV/Resume
  2. Project title
  3. Project description (not to exceed 1 page or 1000 words). This can be in the form of an extended abstract, including purpose, specific aims, background, methods/analysis, and source of funding.
  4. Purpose of study with detailed explanation of why access is needed
  5. The data elements requested/criteria for inclusion. Refer to the Registry Data tab for the list of survey questions and demographic data fields collected by the registry.
  6. Time frame for completion of the project.

Data for publications or presentations

Refer to the publication policy section for guidance on use of registry data in publications.

Users of the registry data are requested to submit copies of their publication to be posted on the registry website.

Collect New Data

To accelerate the pursuit of scientific investigation and understanding of Down syndrome, the DS-Connect® registry can be used by investigators to collaborate and collect new data through supplemental surveys presented to DS-Connect® members. Interested investigators are encouraged to contact the DS-Connect® registry coordinators by email ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) prior to submitting a proposal to collect new data. The supplemental survey would need to be added as an amendment for IRB review purposes.

Level 3 Access: Participant Notices and Recruitment

Users who want to post information about their study or use the registry coordinator to help recruit for a survey or study should request level 3 access.

Need to find participants for a Down syndrome study or clinical trial?

DS-Connect® can be used to disseminate recruitment notices to registry participants or target populations with the characteristics needed for recruitment for specific studies. DS-Connect® is committed to ensuring the privacy and protecting the identity of participants, and will take every available measure to ensure the security of the personal information submitted. Only studies approved by an IRB or human subject ethics committee will be posted on the registry website or sent to DS-Connect® participants.

How does it work?

The DS-Connect® registry coordinator will post study notices on the DS-Connect® registry website and/or send study recruitment notices to participants by email, depending on the needs of study. The registry will not supply identifying information directly to any researcher or research team – participants who may be interested and appear to be eligible will be provided with information about the study and instructions on how to contact the research team. Study notices will only be sent to those DS-Connect® participants who have indicated that they would be willing to receive such notices in their sharing and contact preferences.

Interested investigators are encouraged to contact the DS-Connect® registry coordinator by email ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) to discuss using the registry to notify participants of study opportunities.

The Research Review Committee will review all requests to recruit participants or post study notices (Level 3 access). In addition to the information entered when the professional signed up for the registry, the investigator will provide the following information to the DS-Connect® registry coordinator:

  • Investigator(s) biosketch/CV/resume
  • Project title
  • Project description (not to exceed 1 page or 1000 words). This can be in the form of an extended abstract, including purpose, specific aims, background, methods/analysis, and source of funding.
  • Purpose of study with detailed explanation of why access is needed
  • Summary of Protocol (lay language)
  • Inclusion criteria for protocol
  • Exclusion criteria for protocol
  • Informed consent form(s)
  • IRB status/approval letter
  • Funding status and source
  • Study recruitment materials/proposed language to be sent to eligible cohort
  • Anticipated dates of recruitment
  • Study contact (name, email, phone)
  • Clinicaltrials.gov status (required if a clinical trial)

Upon approval, study investigators/sponsors will be contacted by the registry coordinator to establish dates for posting on DS-Connect® website or distribution of notices. Study investigators/sponsors should be aware that any communication to participants or information on the website will include language to the effect that DS-Connect® does not endorse specific studies, and provides recruitment notices as a service to the community. Participants are also encouraged to discuss all study opportunities with their medical care providers.

Investigator/sponsor responsibilities

The registry can pre-screen participants as likely candidates; however, investigators/sponsors responsible for the study will determine the prospective participants’ full eligibility, and are responsible for addressing and answering participant concerns and questions about the study opportunity.

Study investigator/sponsors are requested to share any relevant study recruitment updates, study termination information, or study results with DS-Connect®. DS-Connect® may in turn share designated information with participants and professional registrants.

  • Authors of manuscripts using registry data or registry recruitment that are accepted for publication are requested to notify DS-Connect® when the manuscript is accepted.
  • Study investigators/sponsors are requested to provide an annual update regarding study recruitment or closure.
  • Study investigators/sponsors are requested to cite the registry in the acknowledgments section of publications, as outlined in the Publication Guidelines section of this document.

Publication Guidelines

DS-Connect® will maintain an up-to-date bibliography and repository of all publications pertaining to the registry, which will be reviewed periodically by the Research Review Committee. The investigators/sponsors are requested to provide DS-Connect® with citations for all publications that derive from DS-Connect® data or recruitment.

In addition to the Terms of Use, the following limitations apply for publications of registry data:

  • DS-Connect® should be acknowledged as a source of data in all publications and presentations of registry data.
  • The investigators/sponsors should notify the registry coordinator of acceptance following submission of a publication. The citation for an accepted publication should be sent to the DS-Connect® registry coordinator ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) for distribution to the DS-Connect® Research Review Committee. A pdf copy of the full publication may be requested if not publicly available.

Suggested language to include in acknowledgment of DS-Connect® in publications:

“The authors acknowledge the contribution of DS-Connect® (The Down Syndrome Registry) which is supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH for the data/study recruitment/etc. used in this presentation/publication/ report/ manuscript.“

Industry Applications

Industry representatives may request access to the registry for scientific exploration, to propose studies, or to designate independent investigators to pursue research questions using the registry data.

Examples of uses of data in DS-Connect® by industry include the following:

  • Trial recruitment for an open and approved study
  • Trial feasibility assessments such as looking at outcomes or barriers to existing treatment
  • Trial planning such as mapping patients and physicians to city, state, region or country
  • Patient characterization and natural history, disease burden and impact
  • Comparative effectiveness of different therapies
  • Drug pricing & financial burden of treatments (health economics)
  • Patient perception for current/future therapies

The Research Review Committee will review requests by industry sponsors for customized data reports or access to registry populations. If a member of the Research Review Committee has a real or perceived conflict of interest with the request being made, that member will recuse themselves from the deliberations. When a question arises regarding data requests that might compromise proprietary corporate information, the advice of the Governance Board will be sought prior to making a final decision regarding access.

Restrictions on use of data

Product-specific results may be used for marketing, publications, and other purposes if data are presented unmodified from registry data reports and publications. The Research Review Committee must grant permission if data are modified or put into another context for external dissemination.

Researchers cannot sell the data from DS-Connect® to another organization.

September 2014 v1.0