Putting Real World Rare Disease Data in Researcher’s Hands

Request Level 1 Data Request Level 2 Data

GETTING STARTED: Instructions and Tips for Researchers Requesting Access

All researchers interested in gaining access to patient-level RARE-X data need to complete these steps:

Level 1: Aggregate Patient Data

Step 1 – Submit Request Form
Use the Visualization and Metrics Request Form to tell us:
– Your disease(s) of interest
– How you plan to use the data
– Your proposed timeline

If your request matches one of our existing templated data visualizations, our Data Access Committee can usually fulfill it quickly. For custom data visualization requests, additional time may be needed for specialized analysis or visualization creation.

Note: We are actively expanding our list of data templates based on feedback from our research partners.

Step 2 – Visualization Request Review
The RARE-X Data Access Committee meets weekly to review requests and set delivery timelines.

After review, a RARE-X team member will contact you with any follow-up questions and provide an estimated delivery date.

Step 3 – Receive and Use Your Visualizations

We deliver data visualizations via Google Drive or Microsoft SharePoint.
If you need a specific file format or style, please note it in your request.

LEVEL 2: De-identified Patient Level Data:

Step 1 – Submit Request Form
Complete the Data Access Request (DAR) Form, providing information including:
– Research purpose
– IRB study details (if applicable)
– Requested data subsets or disease(s) of interest

The Data Access Committee will review your request. You may be asked to provide additional information.
You’ll also be asked to schedule a virtual meeting with a Data Access Committee member to discuss next steps.

Step 2 – Complete the Data Use Agreement (DUA)
Once approved, we’ll send you a DUA template to review with your Principal Investigator and Institutional Signatory. Edits may be negotiated before finalizing. Once finalized, the DUA will be signed via DocuSign.

Step 3 – Data Delivery
After the DUA is signed by all parties:
– You’ll receive copies of your DUA and DAR form by email.
– We’ll confirm your expected delivery date (most within a few weeks).
– Data will be provided via Microsoft SharePoint in Excel format. Files remain available for you to download for 30 days. After 30 days, the files will no longer be available. Please download them before then, or contact us if you need assistance.

Your data will reflect:

Researcher Needs – You may request all available diseases/surveys, or a filtered subset tailored to your project.
Patient Data Sharing Preferences – Patients own their data and set permissions (e.g., IRB-approved use only, non-commercial use only).

Step 4 – Use the Data
RARE-X exists to make high-quality rare disease data accessible, enabling faster progress in research. We look forward to seeing how your work helps drive new discoveries and advances in treatments.
For questions, contact [email protected].

FAQ

What is a Data Access Request (DAR)?

DAR stands for Data Access Request and is a form submitted by someone requesting RARE-X data. It details the type of data requested and the intended purpose of the research.

What is the purpose of the RARE-X Researcher Data Use Agreement (DUA)?

The DUA allows researchers to access data on rare diseases through RARE-X. It outlines terms and conditions to ensure the data is used responsibly, securely, and ethically. A completed DUA requires signatures from a legal signing authority from the requesting party and from RARE-X.

Who can submit a DAR for RARE-X data?

The majority of the RARE-X data requests come from academic or clinical researchers. Patient advocate groups can also submit a DAR. We have a separate process for requesting aggregate data visualizations. If you are interested in aggregate data visualizations, please follow this link.

How do researchers access the data?

Step 1: Submit a DAR specifying the data needed and the purpose of the research.
Step 2: Once approved, authorized users from the requesting institution will have access to the data under the agreed terms.
Access Duration: The access is granted for three years, with the option to renew.

What responsibilities do researchers have?

Researchers are expected to:

Use the data strictly for the approved project and adhere to the agreed terms.
Maintain confidentiality and prevent unauthorized access to the data.
Comply with all relevant laws, professional standards, and their institution’s policies.

As a data requestor, who at my institution will be responsible for signing the DUA?

Most institutions designate a specific official, such as someone in the Office of Sponsored Programs, Office of Research, Technology Transfer Office, Data Steward or Data Governance Lead, Legal Counsel, or Compliance Officer, to sign DUAs. In some cases, the Data Requestor or PI may be required to sign as well.

How long does it take to get access to the data?

Typically it takes at least a couple of months for the entire data access process to be completed. It may take the Data Access Committee a couple of weeks to process the request and getting the DUA executed by both the requestor’s institution and RARE-X has taken anywhere from 1-8 months depending on whether the agreement is accepted as is or there is a need to discuss potential changes.

How is privacy and data security maintained by data requesters?

Handling Personal Data: Personal data of research participants must comply with privacy laws and security standards.
Storage: Data must be stored securely, and access should be limited to approved users only.
Incident Reporting: Institutions must promptly notify Global Genes of any security breaches, incidents, or significant changes.

What are the publication requirements?

Any publications resulting from the use of RARE-X data must acknowledge the data providers. This information is described in greater detail in our DUA.

What is my DUA reference number?

All signed Global Genes/RARE-X DUAs are assigned a DUA reference number for internal tracking. The format of these reference numbers is: RX-[institution name]-DUA-###

What happens if the agreement is terminated?

Termination Notice: Either party may terminate the agreement with 90 days’ notice.
Data Destruction: Upon termination, all accessed data must be destroyed unless legal requirements mandate its retention.

Who owns the data and research outcomes?

Data Ownership: Global Genes retains ownership of the data.
Research Results: Results derived from the data are owned by the researcher’s institution.
If you have additional questions or need further clarification, please contact the Global Genes RARE-X support team.

How is data added to the RARE-X Platform?

RARE-X data is provided by patients and caregivers across a wide spectrum of rare diseases. Data is generated from patient reported outcomes or surveys that are specific to a patient’s symptoms and disease. RARE-X also curates data from genetic test reports.

What kinds of data requests can be made?

Data requests can be customized to the needs of each researcher. Patients have the ability to choose exactly how their data is shared (i.e. commercial vs non-commercial research, IRB sponsored research, etc). Examples of data requests include:

US vs international patient data
Aggregated vs individual patient level data
De-identified vs identified data

How does RARE-X define different kinds of research as listed in the DAR?

“General Research” is the broadest type of research. It includes Health/Medical/Biomedical research and other kinds of studies that are not related to health such as:

Research on age, race, and ethnicity
Research studying traits such as how long people live or how easily they may get sick
Research about genetic traits of different populations
Studies to develop survey questions to improve research

“Health/Medical/Biomedical Research” is defined as research used to learn more about a health condition, its cause, symptoms, progression and treatments. It is slightly less broad than General Research.

RARE-X uses these definitions of research to give patients control over how their data is shared. If you have questions about which category your research falls under, please reach out to the Data Access Committee at [email protected]

What diseases and conditions are currently on the RARE-X Platform?

The RARE-X platform currently supports more than 120 patient advocacy groups across over 80 disorders. Please visit our Rare Disease Community website for more information. If your disease is not currently part of the RARE-X platform, or if your rare disease is undiagnosed, you can still join the RARE-X platform and contribute valuable data.

Can I still access the RARE-X data if I don’t have an IRB-approved study?

Yes! Most participants entering data on the RARE-X platform allow their data to be used by researchers without an explicit IRB-approved study protocol. If participants from the community you requested data from chose to share their data only with IRB-approved studies, you may have access to a smaller dataset.