[Federal Register Volume 77, Number 28 (Friday, February 10, 2012)]
[Notices]
[Pages 7167-7169]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2012-3155]


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DEPARTMENT OF HEALTH AND HUMAN SERVICES

National Institutes of Health


Global Rare Diseases Patient Registry and Data Repository (GRDR) 
Notice and Request for Information (RFI)

SUMMARY: The Office of Rare Diseases Research (ORDR), an organizational 
component of the National Center for Advancing Translational Sciences 
(NCATS), National Institutes of Health (NIH), is inviting patient 
organizations without a patient registry and those with established 
patient registries to be considered for participation in a two-year 
pilot project to establish the Global Rare Diseases Patient Registry 
and Data Repository (GRDR), and to submit background information about 
their organization for consideration by the project's selection 
committee. More information may be found at http://rarediseases.info.nih.gov/GRDR.
    The goal of the GRDR is to enable data analysis within and across 
many rare diseases and to facilitate clinical trials and other studies. 
An interface will be developed to accept de-identified patient data 
from existing patient registries to promote data sharing.
    The GRDR will serve rare disease patients and their advocacy groups 
seeking help and information. It will also serve investigators 
conducting research, clinicians treating patients, epidemiologists 
analyzing disease data, and investigators seeking patients for new 
clinical trials and initiating natural history studies.
    A researcher portal will allow authorized researchers to gain 
access to de-identified patient data to identify potential study 
candidates and to learn about the natural history of disease. Because 
the GRDR will contain only de-identified data, investigators will 
recruit prospective participants through the patient organizations. 
Direct contact with the prospective participants would occur only after 
the patient has granted permission.
    In order to aggregate data from different registries to facilitate 
pan-disease analysis, data must be captured and collected in a 
standardized manner. Use of Common Data Elements (CDEs) facilitates the 
standardization of data collection and allows for harmonization, 
sharing, and exchange of information across registries. ORDR has 
developed a set of minimal CDEs that have been accepted and adopted by 
numerous national and international patient advocacy groups and 
professional organizations globally. To develop organ systems and 
disease specific CDEs, ORDR is coordinating and collaborating with the 
various NIH components, patient advocacy groups, and professional 
organizations that already have developed similar CDEs or are in the 
process of developing them.
    The purpose of this pilot program is to test the different 
functionalities of the GRDR. A total of 24 organizations will be 
selected. Twelve organizations with established registries and 12 
organizations that have no registry will be chosen to participate.

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    The 12 patient organizations without patient registries will be 
selected to assist in testing the GRDR and in the implementation of the 
ORDR Common Data Elements (CDEs) when establishing new patient 
registries. These organizations will participate in the development and 
promotion of a new patient registry for their rare disease. The GRDR 
program will fund the development and hosting of the registry during 
the pilot program. Thereafter, the patient registry is expected to be 
self-sustainable.
    The 12 established patient registries will be selected to integrate 
their de-identified data into the GRDR to evaluate the data mapping and 
data export/import processes. The GRDR team will assist these patient 
organizations in mapping their existing registry data to the CDEs. 
Participating organizations (with patient registries) must have a means 
to export their de-identified registry data into a specified data 
format that will facilitate loading the data into the GRDR on a regular 
basis. A HIPAA compliant server infrastructure and secure file 
transmission protocols will be implemented to protect patient privacy. 
The Global Unique Identifiers (GUID) program developed by the National 
Database for Autism Research (NDAR) will be used to assign unique 
patient identifiers. This will help eliminate duplication and enable 
integration with tissue repositories in a de-identified manner. 
Participating registries will gain access to all collected patient and 
biospecimen information to stimulate collaboration to accelerate the 
development of therapeutics, drugs and hopefully cures for the rare 
diseases.
    During the two-year pilot project, a web-based template will be 
developed to assist other patient groups that wish to establish their 
own patient registry. A HIPAA compliant hosting facility will provide a 
secure environment to protect properly consented de-identified patient 
information.
    Background: The GRDR project is a follow-up to the January 2010 
ORDR workshop, ``Advancing Rare Disease Research: the Intersection of 
Patient Registries, Biospecimen Repositories, and Clinical Data.'' 
Information on this workshop can be found at http://rarediseases.info.nih.gov/PATIENT_REGISTRIES_WORKSHOP/.
    The ORDR, in collaboration with PatientCrossroads, Children's 
Hospital of Philadelphia, and Medscape, launched a pilot project to 
establish the GRDR to collect patient clinical information without 
personal identifiers (de-identified information compiled by the federal 
common rule and HIPPA regulations) for research.
    The PatientCrossroads registry platform, utilized by many rare 
disease organizations to collect patient self-report medical history 
and diagnostic testing information, will be deployed for the 12 new 
registries. PatientCrossroads will provide all technology, hosting, and 
management of the GRDR program. Medical oversight and recommendations 
of CDEs for each participating registry will be provided by Children's 
Hospital of Philadelphia. Medscape will provide input and 
recommendations on marketing, promotion, Continuing Medical Education 
(CME) and physician training programs.
    Although any given condition is rare and there might be few 
patients with each disease, the cumulative public health burden of rare 
diseases is significant, with great unmet medical needs collectively. 
Because rare diseases are so uncommon, no single institution, and in 
many cases no single country, has sufficient numbers of patients to 
conduct clinical trials and translational research studies. Geographic 
dispersion of patients has been a major impediment to patient 
recruitment into clinical trials.
    Best estimates are that fewer than 20% of rare diseases have 
patient registries. Most of these are operated by patients' 
organizations or academic researchers. Most registries are country-
specific, but there are some international efforts. For registry 
developers and those responsible for providing oversight and 
maintenance, there is a need for an established forum to share 
experiences. Each time a new registry is developed, it is started from 
scratch using a different platform with no ability to ``talk'' to other 
registries, share data, and exchange information. There is a consensus 
in the community that there is a need for an infrastructure for rare 
disease patient registries.
    In recognition of both barriers and public health imperatives to 
advance knowledge regarding optimal methods of improving health and 
well-being of rare disease patients, the ORDR has embarked on an 
initiative to establish an infrastructure for an Internet-based, 
federated global patient registry with the capability to link to 
patient clinical information to biospecimens. This global registry will 
develop or utilize existing common data elements, standards, and 
vocabularies that would provide a forum for exchange of data, 
experiences, and knowledge. The future goal is to create a partnership 
with different sectors of the community including advocacy, research, 
and industry organizations. This joint effort will reduce the costs of 
developing and maintaining an international registry for many of the 
rare disease patient advocacy groups.
    A federated model requires that individual registries are 
developed, and those already in existence are enhanced to ensure that 
they are interoperable--i.e., data are defined in the same way, use the 
same standards, and use the same vocabulary. Similar to the open-source 
software community, ORDR believes that an open-science community for 
rare diseases is needed. Such a community would ensure that the 
conditions necessary for data exchange are addressed by defining common 
data-sets, data standards, and vocabulary, and provide a forum for 
exchange of experience and knowledge. The goal is to increase data 
compatibility, broaden accessibility, and collect patient data and 
biospecimen information to accelerate the development of therapeutics, 
drugs, and cures for the rare diseases.
    This global rare disease registry infrastructure will draw new 
interest in rare diseases from academic researchers and the 
pharmaceutical industry because it will assist in the recruitment of 
patient participants much faster and at much lower cost and enable the 
design of more effective clinical trials. Going forward, ORDR expects 
the GRDR to sustain itself as a public-private partnership.
    Because of the importance of biospecimens as research tool to 
accelerate research and better facilitate the understanding of the 
underlying pathogenesis of rare diseases, GRDR will have the capability 
of linking patient data and medical information to donated biospecimens 
using a double coded voluntary unique patient identifiers such as the 
GUID system, which has been developed by National Database for Autism 
Research (NDAR), a project which recently was chosen as finalist in the 
HHSinnovates program. For more information, go to http://jamia.bmjjournals.com/content/17/6/689.full.pdf. The link to 
biospecimens will be interfaced with the patient registry-associated 
biorepositories and with the Rare Disease Human Biospecimens/
Repositories (RD-HUB), and found at http://biospecimens.ordr.info.nih.gov/.
    Information Requested: Patient advocacy organizations without a 
patient registry and those with established patient registries that 
wish to be considered by the selection committee for the GRDR pilot 
project are encouraged to submit contact and background information 
about their

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organization and the rare disease(s) or condition(s) that they 
represent. The information provided should address the eligibility and 
selection criteria below.
    Organizations must meet the following eligibility criteria to 
submit a response.

Eligibility Criteria

    a. Represent a rare disease/condition as defined by law (affects 
fewer than 200,000 individuals in the United States).
    b. Maintain a hard copy or an electronic email list of patients 
affected by the specific disease/condition.
    c. Be willing to seek agreement by their members to share their de-
identified data with the GRDR, other databases, and the research 
community as part of an Institutional Review Board (IRB) approved 
informed consent.
    d. Agree to adopt the ORDR Common Data Elements and elements of the 
ORDR common consent form template.
    e. Have a scientific or medical advisory board to assist on ethical 
issues of privacy human subject protection, data coding and 
transmission, as well as issues related to data standards, curation, 
coding and transmission, scientific issues related to research 
proposals, and other issues as needed.
    Organizations that meet the eligibility criteria are asked to 
provide a short description of how they will address the selection 
criteria which are listed below. Please note that the response for each 
criterion has a word limit and each criterion will be weighed 
accordingly as indicated.
    1. Have a well-defined, credible vision and purpose for 
establishing a registry. (300 words, weigh 30 points)
    2. Have a good plan to sustain the newly established or already 
existing registry beyond the 2 years of the pilot project. (150 words, 
weigh 20 points)
    3. Have, or plan to develop, a feasible system to capture patient 
updates of their medical information as well as updates of patients' 
medical information from healthcare providers. (150 words, weigh 10 
points)
    4. Agree to assist in the translation of their registry into 
multiple languages as needed to facilitate the inclusion of non-English 
speaking participants and appear to be capable of providing such 
assistance. The GRDR will use English only. (150 words, weigh 10 
points)
    5. Have a good plan for data verification by an individual with a 
medical background. (150 words, weigh 10 points)
    6. Are engaged or willing to collaborate with other organizations 
serving the same or related diseases. (150 words, weigh 10 points)
    7. Have a developed means of communication with the public, e.g. 
electronic mailing lists, newsletter, Web site and other social 
networking media. (150 words, weigh 5 points)
    8. Have, or plan for, support to navigate both future registry 
activities and community outreach. (150 words, weigh 5 points)
    The selection committee, comprised of individuals with medical 
background, patient advocacy leaders, and others, will rank the 
submissions from the patient groups based on the selection criteria. 
ORDR will make the final selections of the patient groups based on rare 
disease categories to achieve maximum distribution of the different 
rare diseases. In addition, an effort will be made to ensure that large 
and small patient organizations will be included, i.e., half from 
organizations that represent a rare disease with more than 2,500 
patient participants and half from organizations with less than 2,500 
patient participants (based on hard copy or the electronic contact 
list).
    This invitation and related background information will be 
available on the ORDR Web site http://rarediseases.info.nih.gov/GRDR 
and distributed through various communication tools. Selected 
organizations will be notified and their names will be posted on the 
ORDR Web site.
    How To Submit a Response: Reponses will be accepted for 30 days 
following publication of this notice. All responses must be submitted 
via the Web site at: http://rarediseases.info.nih.gov/GRDR. An online 
form will be available to submit the requested information. Submitters 
are requested not to exceed the number of characters indicated on the 
online form. Submitted information will not be considered confidential 
although each submission will be stored using a login and a password.
    This Request for Information (RFI) notice provides information and 
selection criteria only. It should not be construed as a solicitation 
or as an obligation on the part of the Federal Government, the NIH, or 
the ORDR. The ORDR does not intend to make any awards to pay for the 
preparation of any information submitted or for the Government's use of 
such information.
    ORDR will use the information submitted in response to this RFI at 
its discretion and will not provide comments to any responder's 
submission. However, names of patient organizations that are selected 
in response to this RFI will be posted on the Web site at: http://rarediseases.info.nih.gov/GRDR. The ORDR may contact any responder for 
the sole purpose of enhancing the ORDR's understanding of the RFI 
submission. Respondents will receive an automated email confirmation 
acknowledging receipt of their response, but will not receive 
individualized feedback. No proprietary, classified, confidential, or 
sensitive information should be included in your response.

DATES: Responses to this notice must be received on or before 30 days 
following publication of this notice.

FOR FURTHER INFORMATION CONTACT: Yaffa Rubinstein, Ph.D., Director of 
Patient Resources for Clinical and Translational Research, Office of 
Rare Diseases Research, National Institutes of Health, 6100 Executive 
Boulevard, Room 3A07, Rockville, MD 20892-7518, telephone 301-402-4338, 
Fax 301-480-9655, Web site http://rarediseases.info.nih.gov.

    Dated: February 1, 2012.
Thomas Insel,
Acting Director, National Center for Advancing Translational Sciences 
(NCATS), National Institutes of Health.
[FR Doc. 2012-3155 Filed 2-9-12; 8:45 am]
BILLING CODE 4140-01-P