Q&A with EB Care, Part II

Last week, we posted Part 1 of a two-part conversation with Jennifer Gorzelany, advisor to biotech company Lotus Tissue Repair, which developed the EBCare Registry in collaboration with DebRA of America, DEBRA International and EB experts. Gorzelany shared information about the background of EBCare and dispelled myths about the Registry. Now she takes us through the steps of registering and discusses long-term goals.

EB Resource (EBR): What kind of feedback have you received about the Registry so far?
Jennifer Gorzelany (Jennifer): The feedback we have received so far has been very positive. Patients are eager to help doctors and researchers learn more about EB, and they want to play an active role in improving EB care and finding new treatments.

EBR: How many individuals or families are currently enrolled in the Registry?
Jennifer: As of Nov. 15, 2012, we have 375 patients enrolled in the Registry.

EBR: And what percentage of the EB population has the EBCare Registry been able to capture so far?
Jennifer: The number of patients in the Registry so far is 375, with 226 of these located in the U.S. It is estimated that there are about 15,000 EB patients in the U.S.; therefore, about 1.5% of U.S. EB patients are currently enrolled in the Registry.

EBR: So how does it work? What are the steps to getting registered on the EBCare Registry?
Jennifer: Patients or their caregivers can go to the Registry website at www.ebcare.org. Once at the site, they can read more about the Registry and enroll by clicking on the “Register Now!” button. Completing all of the Registry questions takes about 30-40 minutes, but it does not have to be finished in a single session. Patients or their caregivers can create an account and enter their diagnosis in just a few minutes. Once an account is created, they can log back in over a series of days or weeks to complete the questions. If patients have trouble answering any of the Registry questions, they can request assistance from an EBCare Coordinator. The coordinator’s contact information is on the EBCare website.

EBR: Has the team behind the EBCare Registry established a timeline for getting the Registry as complete as possible, and if so, what are their goals?
Jennifer: The Registry will continue to enroll patients indefinitely, but the more data we can collect, the better we can understand each form of EB. It would be excellent, for example, if we had 500 or more patients enrolled for each type of EB. With such a large amount of information from so many patients, we would be able to study the data and gain insight that might even lead to publishing new findings in scientific journals. Our goal is to be as successful as the registries for other rare diseases like cystic fibrosis (CF), which has enrolled over 80% of the CF patients in the U.S.

EBR: 2013 is here. What will the EBCare Registry team be focused on during this new year?
Jennifer: We are working on translating the Registry into other languages, beginning with Spanish and Japanese. We are also working on developing Registry reports that summarize the key information we have learned about the patients in the Registry. These reports will be shared with the EB community. And finally, we will continue to support DebRA of America and DEBRA International’s efforts to educate patients about the importance of the Registry. We thank you so much for giving us the opportunity to talk to your readers about the EBCare Registry. Our sincerest thanks go out to all of the patients that have participated in the Registry so far. We are off to a great start and we look forward to more patients joining in 2013 and beyond!

Q&A with EBCare, Part I

cardiogramEBCare Registry, developed and funded by the biotechnology company Lotus Tissue Repair in collaboration with DebRA of America, DEBRA International and experts in the field of EB medical research and advocacy. Recently, we connected with Jennifer Gorzelany, an advisor to Lotus Tissue Repair, to discuss the Registry.

In this first part of the two-part interview, Gorzelany shares the history behind EBCare and attempts to clarify misconceptions about the Registry and its mission.

EB Resource (EBR): How were you first introduced to epidermolysis bullosa? What has been your own personal experience with EB?
Jennifer Gorzelany (Jennifer): I have worked at two biotechnology companies that have developed and launched therapies for rare genetic diseases, and I currently work with several companies in similar disease areas. So I have a longstanding interest in rare diseases. Before becoming involved with EBCare and Lotus Tissue Repair, I had never heard of EB. Over the last year, I have had the opportunity to meet many patients and families and have been touched by their stories. I am proud to be associated with the EB community and inspired to do all I can to help.

EBR: And what is the history behind the Registry? When did it officially launch and what led to its development?
Jennifer: DebRA of America, DEBRA International and Lotus Tissue Repair wanted to develop additional ways to help the EB community. Many other rare disease patient organizations and companies have built registries that played a key role in advancing better care and treatments. The success of other registries led to the formation of EBCare and the EBCare Registry. The EBCare Registry was launched in February 2012.

EBR: What have you found to be some of the biggest misconceptions about the EBCare Registry?
Jennifer: A common concern among patients and families is confidentiality. The information a patient or family provides to the Registry is strictly confidential and the Registry is compliant with U.S. and international privacy and data security regulations. Physicians or researchers who want to use the registry information in their work must submit a written request to the EBCare Board of Managers, describing why they would like to use the data. The Board reviews these requests, and Registry information is only shared with the Board’s approval. The information provided to physicians and researchers is “de-identified.” This means that no information that would make it possible to identify a patient or family is revealed.

EBR: This interview is a great opportunity to clarify what the EBCare Registry is all about. Can you tell our readers what EBCare is and isn’t, especially for those who are unfamiliar with it?
Jennifer: The EBCare Registry is the first self-reported registry for EB. Patients or their caregivers can enter much needed information about their diagnosis, symptoms, wound care, medical treatment and quality of life into the Registry. By participating in the Registry, patients supply information that can be used by EB advocacy groups, physicians treating EB, and researchers studying EB — potentially leading to better care and new treatments for the disease. Registries like the EBCare Registry are especially important in the case of rare diseases, because with so few patients, these diseases are often not well characterized or understood. By providing information through the Registry, patients can play a key role in advancing better care and treatments.

The fact that the EBCare Registry includes ‘self-reported’ data is very important, because patient- or caregiver-reported information offers different and potentially more intimate insights about the condition than physician-reported information. For example, an organization like DebRA of America could use the Registry data collected regarding the overall cost of EB to make a more compelling case to insurance companies and healthcare payers as to why the cost of wound care supplies should be covered. Also, companies developing new EB treatments, including Lotus Tissue Repair, are particularly interested in understanding patient-reported symptoms and quality of life information, to ensure that during clinical trials, we more accurately determine what a clinically meaningful benefit is. The answers to these questions are more comprehensive and complete when reported by patients or their caregivers.

As for what the Registry is not, it is not a marketing tool, and participants’ names are never shared without their consent. While DEBRA International, DebRA of America and Lotus Tissue Repair developed the Registry, any qualified researcher whose goal is to help the EB community can request the de-identified Registry data.

EBR: What are the overall objectives of having a registry like this in place?
Jennifer: The goal of the EBCare Registry is to securely and confidentially collect as much self-reported information about the experiences of EB patients and their families as possible, and to provide de-identified disease information to qualified doctors and researchers. By gathering information on how EB impacts the lives of those with the disease and their families, we hope to support advocacy, improve care and encourage the development of new treatments.

DEBRA International Congress 2012

Last month, I had an opportunity to attend DEBRA International’s annual meeting of DEBRA groups from countries all around the world. DEBRA Canada and Canada’s Hospital for Sick Children (“Sick Kids”) served as hosts for the DEBRA International Congress 2012, which ran from Sept. 13-16, 2012, at Toronto’s Fairmont Royal York Hotel. It was a fascinating and educational experience to be able to interact with a mix of physicians, nurses, researchers and families representing 25 countries, all coming together to share information and collaborate on common goals for the benefit of EB families.

DEBRA International made it known at the event that one of its top priorities is to encourage collaboration among the various DEBRA organizations worldwide to define and establish EB care guidelines in a number of clinical areas to be published on its website as well as within medical journals throughout the world. Their goal is for these guidelines to be made available to physicians everywhere to better understand the EB patient and best serve these patients and their families. Once created, the guidelines will be made available in as many languages as possible to serve medical communities across the world. But as with any set of guidelines, creating these take time. There are currently efforts in place to establish wound care, nutrition and pain management guidelines, and dental guidelines were just formally published by the group last month. Click here for the link to DEBRA International’s dental guidelines for EB patients.

This year’s program was broken out in such a way that each day had a different focus. Day One featured segments on EB family topics, including pain management, school issues such as bullying, skin care and nutrition. Day Two concentrated on the various care guidelines that several countries have in development with particular emphasis on the various wound care efforts from Italy, Canada’s Toronto Accord and the UK.

Day Three was all about research and offered a closer look at the EB studies in progress currently as doctors from across the world discussed their work. Dr. Jakub Tolar addressed the congress about his bone marrow transplantation procedure; Dr. Peter Marinkovich introduced his study, gene transfer for human recessive dystrophic EB; Dr. David Woodley discussed protein replacement therapy; Dr. Sarah Atkinson of the UK discussed her siRNA Therapy study; and Dr. Gabriela Petrof also of the UK shared the latest about her clinical trial studying the role of allogeneic fibroblast cell therapy in RDEB patients. During the final day of the conference, Day Four, attendees were able to be part of break-out workshops covering such specialized topics as nursing, nutrition, physical and occupational therapy and psychosocial issues associated with EB.

During the conference, DEBRA International unveiled its newly upgraded website and gave others a chance to educate attendees about their programs. For example, I learned about EB Without Borders, a group of DEBRA organizations from around the world who have joined forces to support EB patients and their families in those parts of the world where there is no DEBRA organization already established. And once again, I had a chance to meet up with the EBCare registry team, a group gathering data to establish an EB database. I learned something new that I was not aware of – that those families like mine who had lost a child previously to EB can also register with the database; it is not solely families currently facing it on a daily basis. Their representatives encouraged all families at any time impacted by EB to get in touch with them to get registered and become part of this valuable international database. The more information they are able to gather, the more thorough and complete picture they can build about EB families – who they are and how they are being impacted by this devastating disease.

All in all, it was an enlightening conference for attendees fortunate enough to take part. I’m happy to be back home from travel time away from the family, but it was educational and very encouraging to get to hear from and meet so many people committed to working together to better understand EB, to improving treatments for EB and to developing a cure.

For more information about this year’s event, check out DEBRA International’s 2012 Congress website at www.debracongress2012.com.