The purpose of the IBSR is to bring the Bloom syndrome community together and collect medical, genetic, and lived experience data. This includes:

• Describing individuals with Bloom syndrome and understanding how it affects people differently
• Studying how the disease progresses over time
• Learning how medical issues are treated and how people respond
• Informing best practices and care guidelines
• Supporting future research and clinical trials
• Studying genetic factors through existing genetic test results, when provided

In future phases, the IBSR may include additional optional components, such as clinician-entered data, electronic health record data capture, and genetic/genomic testing, after any required IRB review and approval.

A patient registry is a collection of standardized information about a group of patients who share a condition. The information may be used for a variety of purposes such as conducting natural history studies and supporting disease specific clinical trial recruitment.

A natural history study is a study designed to track the course of a disease over time. It includes people who have a specific medical condition or disease. It may also include those who are at risk of developing the condition/disease. This type of research identifies demographic, genetic, environmental and other information that may be common within the disease and its outcomes. A natural history study can also show the differences in symptoms and changes over time that are seen in different people with the same disease. Natural history studies often aim to find unknown similarities within the disease population. They have many potential uses such as patient care best practice development and clinical trial recruitment. Data for natural history studies are often collected via patient registries.

The study is open to individuals who have a confirmed or suspected diagnosis of Bloom syndrome or a Bloom-like syndrome and meet the study inclusion criteria. This includes individuals with Bloom syndrome caused by pathogenic variants in BLM, as well as individuals with Bloom-like syndromes involving related genes such as TOP3A, RMI1, or RMI2.
The Registry is also open to minors through a parent or LAR, adults who require an LAR, and individuals who passed away within the past 10 years through a Designated Representative, if the applicable consent or authorization requirements are met.

The Bloom Syndrome Clinical Tumor Board, or CTB, is a separate BSA-supported clinical consultation pathway where a treating clinician may present a cancer case to a group of experts for clinical input. Participation in the Clinical Tumor Board does not require participation in the IBSR.
If a person is enrolled in the IBSR and has provided separate optional permission, certain cancer-related information from a CTB discussion may also be entered into the IBSR for research. No CTB information will be entered into the IBSR unless the participant, parent/LAR, or designated representative has enrolled in the IBSR and provided the required permission.

Data is collected through:

• Online surveys completed by Participants or their Representatives, through a secure web-based application (that can be accessed by computer, tablet or phone) developed by the National Organization for Rare Disorders, Inc. (NORD®), (learn more about NORD below).
• Optional uploads of medical records, genetic test reports, laboratory reports, pathology reports, imaging reports, and other relevant documents
• Optional uploads of photographs, voice recordings, or other files when requested by a survey and when the Participant or representative chooses to provide them

In future phases, the IBSR may also collect data through:

• Clinician-entered data, with permission
• Electronic health record information, with permission
• Optional genetic/genomic testing, such as whole genome sequencing

Future components will be added only after any required IRB review and approval.

Data collected include:

• Socio-demographics and social determinants of health
• Medical history, diagnostics, and growth tracking
• Cancer history, staging, and treatment response
• Existing genetic test results, if provided
• Imaging, lab, and pathology results, if uploaded
• Patient-reported outcomes, including fatigue, sleep, and quality of life
• Caregiver experience information, where applicable
• Voice recordings and photographs (optional)

In future phases, the IBSR may add clinician-reported data, electronic health record data, and research-grade genetic/genomic testing, after any required IRB review and approval.

Participants may upload existing genetic test reports, such as BLM genetic testing, gene panel testing, exome sequencing, or genome sequencing results, if available. These reports help researchers understand genetic factors that may influence how Bloom syndrome presents and progresses.
In a future phase, the IBSR may offer optional research-grade genetic or genomic testing, such as whole genome sequencing. If offered, this testing would require separate permission and would be conducted for research purposes. Research-grade results would not be returned to Participants and should not be used for medical decision-making. If you are interested in clinical genetic testing, please speak with your healthcare provider or a genetic counselor.

Yes. Optional components are not required for participation in the main Registry. You may choose not to upload certain files, not to provide genetic reports, not to participate in future genetic/genomic testing, not to authorize EHR data capture, or not to allow cancer case information from a Clinical Tumor Board discussion to be entered into the Registry. Your choices about optional components will not affect your ability to participate in the main IBSR.

At launch, Participants or their representatives may upload medical records, test reports, and other clinical information. In a future phase, the IBSR may allow Participants to give permission for clinicians to enter information directly into the Registry. This feature will be added only after the required workflows, safeguards, and IRB approvals are in place.

At launch, Participants or their representatives may upload medical records and reports themselves. In a future phase, the IBSR may offer an optional process to collect certain electronic health record information directly, with separate permission. This feature is not available at launch and will be implemented only after a pilot confirms that records can be obtained in a way that is technically feasible, useful for the Registry’s research goals, and appropriately protected.

A Research Study Sponsor is an individual, company, institution, or organization. They are responsible for choosing appropriately trained and experienced researchers to conduct the study. They are also responsible for the initiation and management of a research study. Additionally, the sponsor is responsible for the costs associated with conducting a registry study. They ensure that the study is conducted in a reputable, scientific and ethical manner and upholds regulations as they apply to the study. The sponsor of this Registry is the Bloom Syndrome Association.

The Bloom Syndrome Association (BSA) is a nonprofit organization founded and led by families, researchers, and advocates who are united by their commitment to improving the lives of individuals affected by Bloom syndrome.
The mission of the BSA is to connect, educate, and support the global Bloom syndrome community, and to stimulate research that leads to longer, healthier lives. The BSA supports individuals and families through outreach, education, and advocacy efforts, and collaborates with scientists, clinicians, regulators and industry partners to advance research and improve care.
The BSA is the sponsor of the International Bloom Syndrome Registry (IBSR) and is responsible for its design, oversight, and long-term stewardship. The BSA ensures that the registry reflects the needs and priorities of the Bloom syndrome community and promotes ethical, patient-centered research.
To learn more, visit www.bloomsyndromeassociation.org.

The Principal Investigator (PI) is the person with the primary responsibility for the design and conduct of the research project or study. The PI is responsible for oversight of all aspects pertaining to the conduct of the Registry, its staff and the research on the data contained within.

A Study Participant is the individual with confirmed or suspected Bloom syndrome about whom information is entered into the Registry. In the case of an independent person of legal age, this individual will consent for and enter information about themself. If an individual is not of legal age or is an adult who requires someone to act on their behalf, a person (Caregiver/LAR, see below) who is legally responsible for their health care will provide consent and enter information about the Study Participant.

An LAR is someone who is authorized under applicable law to consent and enter data in the registry on behalf of another individual. The LAR may be a parent, grandparent, spouse, caregiver, or guardian as long as they have the legal authority to grant consent on behalf of that individual. An LAR will sign up on the IAMRARE® platform and add a Participant to their account. When an LAR acts on behalf of a Study Participant, they are considered to be the reporter in the research.

A Designated Representative is someone who cared for an individual with Bloom syndrome who passed away within the last 10 years. They may enter retrospective data on that individual’s behalf but will not enter longitudinal updates. This may be a spouse, parent, sibling, offspring, close relative, close friend, guardian and/or significant other of this individual. This person must have had knowledge of and participated in the medical care of the deceased.

An ICF is a document that provides potential Study Participants with key information about the Registry. This document helps potential Participants to make an informed decision whether to join or not. Information will include topics such as: the risks and benefits of the research project, use of data, and Participant privacy. If they choose to join the study, Participants are required to electronically sign the ICF. This indicates that they agree to the terms as described before entering data into the Registry or responding to surveys.

Participants are able to withdraw from the study at any time. However, researchers may still use the information that they have collected prior to the Participant changing their mind. If you withdraw, no new data will be collected or shared, but previously shared data may still be used for new studies unless you request full data removal.

An IRB is a board formally designated by an institution or investigator to review, approve the initiation of, and conduct periodic review of research involving people. The primary purpose of such an assessment is to ensure the protection of the rights and welfare of the participants in the study. This is also known as an Ethics Committee (EC) or Research Ethics Board (REB in Canada).

A Registry Advisory Board is a committee that may include scientists, doctors, and patient advocates. They oversee the conduct of the Study. The Board advises on the development of surveys and reviews combined Registry data and the use of this Registry. They will ensure proper evaluation of all research requests for use of the Registry data. They will also review any protocol or confidentiality deviations and ensure that any such deviations are reported to the IRB.

There is no cost to the Participant to join this study.

You will not be paid for the information you provide.

A registry on the NORD® IAMRARE® platform will typically be open for at least five years. Participants will be asked to return to the Registry periodically to update their information.

The Registry uses an online platform which allows Participants to contribute data from anywhere in the world. Individuals from countries other than the U.S. who enter data into the registry should be aware that data and privacy laws are different in the U.S. from other countries. This U.S. based Registry will protect data and privacy according to U.S. requirements.

For individuals living outside the United States who choose to share information about themselves, the same protections for privacy and confidentiality are offered as in the United States. Residents of the European Union and Switzerland have additional particular rights related to personal information. This information is disclosed within the Informed Consent document. If an individual signs this document, they acknowledge that they are disclosing information that would otherwise be private. Privacy laws in an individual’s country may have different protections than those provided in the United States.
Registry participants who are residents of the European Union and Switzerland are entitled to:

• Request to obtain access to and rectification or erasure of personal data;
• Receive personal data in a portable, readily accessible format;
• Restrict or withdraw permission for the processing of personal information; and
• Lodge a complaint with an appropriate supervisory authority.

All Participants, no matter where they reside, are extended these same rights.

NORD stores Sponsor and Participant Registry Data on NORD encrypted servers and/or encrypted servers of third-party vendors hosted in Canada. Regular back-up at commercially acceptable intervals is provided. These servers meet industry standards and are compliant with US and international regulations, including GDPR.

The registry follows strict government guidelines to assure patient information is protected. The platform is served over HTTPS, which means that the data is encrypted when being sent from the user’s browser to the NORD servers. The data is also kept encrypted in the NORD database. Communications between the registry platform application server and the database are also encrypted. As with any information you provide electronically, there is a very rare chance that your privacy could be compromised. However, the registry and the security measures minimize the chance of this occurring.

The Study data are owned by the Study Sponsor, the Bloom Syndrome Association. The Registry Advisory Board oversees all data requests. NORD staff will have access to the data for activities related to support and maintenance of the Platform and will collect Platform-wide participation statistics. The specifics will be outlined in your Informed Consent.

All data, including those with PHI, will be stored in a password protected secure server. Access to PHI will be limited to:

• Approved members of the IBSR research team
• NORD staff, in cases where technical support is needed and with the permission of Registry staff
• With agreement from the Sponsor, NORD may conduct IRB-approved, cross-disease research using Registry data.

For any file that cannot be de-identified, trained staff will extract necessary Bloom syndrome-related information and enter it into a coded, staff-entered survey. Outside researchers will not have access to original files that contain PHI unless specifically approved by the Registry Advisory Board.
In all cases, your privacy will be protected. The Registry Advisory Board will evaluate all requests for data from researchers. Researchers will only be provided with the minimum data necessary to accomplish their research study goals. Data containing PHI will only be shared if the research cannot be done without it. The researchers will be required to sign a Confidentiality Agreement in which they promise to keep your information safe.

The Registry is maintained by NORD who hosts the Registry on its web-based application. NORD provides ongoing technical support of the system. The Bloom Syndrome Association provides the day-to-day management of their IBSR.

NORD, an independent nonprofit, is leading the fight to improve the lives of rare disease patients and families. We do this by supporting the rare community, its people, and organizations. We work together to accelerate research, raise awareness, provide valuable information, and drive public policy that benefits the estimated 25-30 million Americans impacted by rare diseases. Learn more about NORD at https://rarediseases.org/.