Powered by IAMRARE®

FAQs

FGFR Syndromes Research Registry

FAQ for FGFR Syndromes Research Registry

What is the purpose of the FGFR Syndromes Research Registry?

The purpose of the FGFR Syndromes Research Registry is to bring the FGFR Syndromes community together and collect data.
Some of the goals of the FGFR Syndromes Research Registry are:

  • To describe the people who have FGFR syndromes and to better understand the stages of the disease and the different ways the disease affects people. To do this, we will ask about diagnosis, treatment, medical history, social and economic environment, and treatment outcomes.
  • To understand how FGFR syndromes change over a person’s lifetime and to learn about clinical practice patterns and variations over the course of treatment.
  • To help to develop best practices, management guidelines and recommendations so that clinicians can know how to give the best care to improve the quality of life and outcomes of people with FGFR syndromes.
  • To find a correlation between phenotypes (characteristics of a person) and genotypes (the specific gene mutation). This will help patients/caregivers better prepare for their medical journey and what questions to ask their doctors.
  • To identify people with FGFR syndromes who might be willing to take part in other research studies or clinical trials. You will be able to choose whether you want to hear about these other studies.

What is a Patient Registry?

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.

What is a Natural History Study?

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.

How is the data collected?

Data is collected 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 in question 24). Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts.

What types of data will be collected in the FGFR Syndromes Research Registry?

The data collected includes but is not limited to:

    • Socio-demographics
    • Medical Symptoms
    • Genetic diagnostics
    • Disease-Related Conditions and Treatments
    • Disease progression
    • Management of care
    • Quality of life

What is a Research Study Sponsor?

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, ethical manner and upholds regulations as they apply to the study. The sponsor of this registry is Born a Hero, Research Foundation.

Who is Born a Hero, Research Foundation?

Born a Hero, Research Foundation is a 501 (c)(3) nonprofit organization that was founded in 2016. Its mission is to accelerate innovation and research to improve the quality of life for patients with FGFR Syndromes.

What does FGFR stand for?

Fibroblast Growth Factor Receptor. The FGFR genes (FGFR1, FGFR2 and FGFR3) make proteins that are involved in cell division, cell maturation, formation of new blood vessels, wound health and bone growth, development, and maintenance.

What FGFR Syndromes are studied in this registry?

  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
  • Apert syndrome
  • Beare-Stevenson cutis gyrata syndrome
  • Bent bone dysplasia syndrome
  • CATSHL syndrome (Camptodactyly, tall stature, and hearing loss syndrome)
  • Crouzon syndrome
  • Crouzon syndrome with acanthosis nigricans
  • Hartsfield syndrome (holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate)
  • Hypogonadotropic hypogonadism 2 with or without anosmia (Kallmann syndrome with anosmia)
  • Jackson-Weiss syndrome
  • LADD syndrome (Lacrimoauriculodentodigital syndrome)
  • Muenke syndrome
  • Osteoglophonic dysplasia
  • Pfeiffer syndrome, type 1, 2 and 3
  • Thanatophoric dysplasia, type I and 2

What is a Principal Investigator?

The Principal Investigator 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.

Who is a Study Participant?

A Study Participant is the individual 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.

What is a Legally Authorized Representative (LAR)?

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 with a Caregiver account. When an LAR acts on behalf of a study participant, they are considered to be the reporter in the research.

What is a Designated Representative?

A Designated Representative is a legal adult who was the caretaker of an individual who passed away from an FGFR syndrome. 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. These individuals are permitted to enter retrospective data on their behalf.

What is an Informed Consent Form (ICF)?

An ICF is a document that provides potential participants with key information about the registry. This document helps potential participants to make a voluntary 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.  

After consenting, can a Participant choose to stop participating in the study?

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. Information that has already been shared with the RDCA-DAP or other researchers prior to withdrawal cannot be retrieved or removed.

What is an Institutional Review Board (IRB)?

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 assure 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).

What is a Registry Advisory Board?

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.

Who can join the study?

This study is open to anyone who has an FGFR syndrome diagnosis with craniosynostosis and meets the study inclusion criteria for participation.

Is there a cost to participate?

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

Is there a payment for participating?

You will not be paid for the information you provide.

How long will this study last?

A registry on the 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.

Can data be collected worldwide?

The registry uses an online platform which allows participants to contribute data from anywhere in the world. Individuals from other countries 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.

Where is the data stored?

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.

Is the data safe?

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.

Who owns the data?

The study data are owned by the study sponsor, Born a Hero, Research Foundation. Born a Hero decides how and with whom to share the data. 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.

Who will have access to Protected Health Information (PHI)?

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 FGFR Syndromes Research Registry 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.

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.

What are the GDPR considerations?

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.

How is the registry maintained?

The registry is maintained by NORD who hosts the registry on its web-based application. NORD provides ongoing technical support of the system. Born a Hero, Research Foundation provides the day-to-day management of their patient registry.

Who is NORD – the National Organization for Rare Disorders, Inc.?

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/.

What happens if an FGFR patient does not have a genetic diagnosis?

If the patient does not have a genetic diagnosis, please contact us at registry@bornahero.org. Born a Hero, Research Foundation is on a mission to make sure that patients with FGFR syndromes get genetically tested.

Who do I contact for assistance with the registry?

If you do not understand a question, if you are not sure how to answer something, or if you need any other type of clarification, please log in to your account. Click the “Help” button and select “General Study Questions” under Inquiry Type. You may also email registry@bornahero.org

Who do I contact for technical issues with the registry?

If you have technical issues, please log in to your account. Click the “Help” button and select “Technical Help” under Inquiry Type. If you have trouble prior to creating your account, please email iamrare-help@rarediseases.org.

Who do I contact if I want to file a complaint in regard to the registry or if I am worried about my privacy?

If you would like to file a complaint or are worried about your privacy, please contact info@northstarreviewboard.org.

Can you save your work?

To ensure that you do not lose the information you have entered, please click the “Save Progress” button at the bottom of the form before you log-out when you are done or when stepping away from filling out the registry.

After you finish a survey, what can you go back and edit?

If you are not able to complete a section in one sitting, it is important to use the “Save Progress” button if you have additional data to enter. Once the form is complete and you click “Submit,” you will not be able to edit the data. However, some forms are meant to be updated over time, and you will receive an email prompt when it is time to update these. “Medical History” is an example of a survey meant to collect data over time. Once you receive the reminder email and return to the Registry to provide updates, you will find that the surveys will be prefilled with data that you previously entered, so you can add additional information. Additionally, the “Disease-Related Conditions and Treatments” and “Genetic and Clinical Diagnosis Reports” surveys are updateable at any time. However, if you feel that you have accidently made a mistake and would like an opportunity to make a change to other surveys, contact the FGFR Syndromes Research Registry Staff at registry@bornahero.org and they can help you with this.