Deanna Portero, Fibrous Dysplasia Foundation Executive Director, sat down with Lisa Heral, FD/MAS Patient Registry Project Lead, to learn more about about patient registries, and why it’s so important that we start one for fibrous dysplasia/McCune-Albright syndrome.
Q1: What is a patient registry?
LH: There are a lot of definitions of “patient registry”. The term registry is very broad. A registry is basically a collection of information, and it can include patient-reported information, clinical information or biospecimens. The reason the term patient registry is so broad is because the specific information collected in each registry is based on the informational needs of the community building the registry.
For example, a disease population that has well-defined standard of care may be at a point that in their patient registry what they need is a registry that only collects contact information, to help contact eligible patients for clinical trials. On the other hand, for disease populations that are still determining the best standards of care, those populations need a registry that collects information about symptoms, treatments and outcomes so that research can be done to identify the best courses of treatments for different kinds of patients.
For more information on patient registries and the forms they can take, I would recommend the AHRQ Handbook, “Registries for Evaluating Patient Registries: A User’s Guide.”
Q2: Why is a patient registry needed for fibrous dysplasia?
LH: The beautiful thing about registries is that they can serve more than one objective. The FD/MAS Patient Registry Steering Committee has identified several objectives for our registry, including
- characterizing the disease, in its width and breadth, in all of its manifestations,
- understanding the current state of clinical management,
- capturing information to accelerate research into the disease,
- identifying gaps in knowledge among patients, caretakers, and healthcare providers, and
- supporting the FD/MAS medical community in developing clinical recommendations and standards of care for patients
The more people that join our registry, the more powerful the information that we’ll be able to provide to clinicians and researchers will be.
Q3: How will the registry relate to other fibrous dysplasia research?
LH: The natural history study at the NIH has done a lot to advance our understanding of McCune-Albright syndrome and fibrous dysplasia, but we realize that there is additional information that could be gleaned from going directly to a larger group of patients. The FD/MAS Patient Registry is working closely with not only NIH researchers, but researchers globally, to develop a set of questions that can fuel future research into the disease.
Q4: Who is working on the project?
LH: I am leading the project on behalf of the Fibrous Dysplasia Foundation. The project is supported by a team of committed volunteers who have formed the FD/MAS Patient Registry Working Group. The Working Group’s website lists all of our working group members. Among them are patients, caregivers, clinicians, and researchers from the NIH, Indiana University, Oxford University, Loyola University,and Parkview Mirro Research Center.
A portion of this project was funded by PCORI an independent, non-profit organization authorized by Congress in 2010 to fund comparative effectiveness research that will provide patients, their caregivers, and clinicians with the evidence needed to make better-informed health and healthcare decisions. PCORI is committed to seeking input from a broad range of stakeholders to guide its work.
We are partnering with the National Organization for Rare Disorders (NORD) to utilize their industry leading web-based platform to build the registry’s website, and are also partnering with them to ensure we are following all best practices in patient registry development.
If you are a patient, caregiver, clinician or researcher who is interested in joining the working group, please contact me at email@example.com
Q5: What are you working on now?
LH: Presently, we’re finalizing the protocol, which is a research plan for the registry. We’re also finalizing the questionnaires that will be delivered to patients who join the registry. These are two huge and important tasks, that will ensure that the most valuable information is collected.
Our friends at Indiana University have played an integral role at leading us through this, and have provided us with invaluable counsel throughout this process.We’ve taken an iterative approach to developing the questionnaire. Part of the process involved looking at what others are doing in this disease-space. We’re building our questionnaires based on NIH Office of Rare Diseases questionnaires, questionnaires administered by Drs. Michael Collins and Alison Boyce at the NIH NIDCR, and questionnaires utilized by the RUDY Project, a newly formed patient registry for FD/MAS patients in the UK. This will allow us to pool our findings in the future.
Q6: When can patients join, and what can they expect when they do?
LH: We hope to launch the registry by this summer.
Patients will be asked to go to a website, create an account, and complete a series of questionnaires about their symptoms, treatments and outcomes. Patients can expect to receive requests to answer a follow-up questionnaire on an annual basis. These follow-up questionnaires are really important. It’s the long-term follow-up with patients over years that will give us the richest information for researchers in the future. Once a patient has provided data, they can expect an annual report from the Fibrous Dysplasia Foundation about registry-related findings.
Researchers will be able to submit requests to access de-identified information. All requests will be reviewed and approved by the Registry Oversight Committee. Patients can also opt in to receive information about clinical trials that are relevant to them. The FDF will pass along the information about the clinical trials to eligible patients, and never share identifying information with researchers unless it is by the request of the patient.
Q7:What are your hopes for the project, long-term?
LH: We fully intend to be able to also collect clinical information in the future, by asking patients to share specific medical records to our registry. In addition, we would like to link this information to blood and tissue samples. Both of those initiatives are planned for later phases in the registry, and participation will not be required to complete the questionnaires.
Ultimately, I hope that this registry will advance our understanding about this disease, accelerate research into the disease, and have an impact on the quality of care that people with fibrous dysplasia receive.
Thanks so much for your time today!
LH: Thank you! I love working on this project and can’t wait to launch later this year.