When it comes to improving Gaucher disease treatment, knowledge is power. The more data the medical community can gather on this rare condition, the better equipped they are to develop new ways of treating it. That’s where the International Collaborative Gaucher Group (ICGG) Gaucher Registry comes in. Launched in 1991, and directed by an international group of Gaucher experts with operational support from Genzyme, a Sanofi company, the registry is the largest and most comprehensive database of de-identified Gaucher statistics in the world. Increasingly, the Gaucher community is recognizing the value of this resource, not only because it may speed up research, but also because it can help individuals track the quality of their own care.
With the Passing of a Gaucher Pioneer, a Registry Service is Born
Two people who have front-row seats to this trend are Eric Rice and Michelle Hackenberry, founders of Data Registry Services, LLC, a cloud-based company created to help Gaucher patients around the country whose physicians aren’t equipped, or in some cases, willing, to properly log their patients’ data into the Registry. The HIPAA-compliant company is now available to any North American Gaucher disease patient who wants to use their service.
The stepson of the late Dr. John Barranger, a Gaucher research pioneer who worked on the first lysosomal storage disease treatment, Mr. Rice originally managed Dr. Barranger’s medical practice. When his stepfather unexpectedly passed away, Mr.Rice and Mrs. Hackenberry had to make sure all the patients were transferred to other medical facilities. While under Dr. Barranger’s care, patients relied on the practice to log their medical data into the ICGG, but with the doctor’s passing, Mr. Rice recognized that this courtesy might not continue. “We realized that about half of his patients were going to end up at sites that would do the infusions, but all their future information would just be lost to the Registry,” Mr. Rice said.
So, the two decided to start a service which enables any interested Gaucher patient free and easy registry access, guaranteeing that their data is consistently logged into the Gaucher Registry. When a new patient signs up, Data Registry Services contacts their care providers, gathers the patient’s entire medical history, enters all relevant medical data and then makes sure the Registry is constantly updated with new information moving forward. Sometimes, they act as the “squeaky wheel,” reminding medical facilities that patient data needs to be sent in a timely fashion.
Helping Others & Yourself: The Benefits of the Gaucher Registry
Whether Gaucher patients participate through Data Registry Services, or through their own medical providers, Mr. Rice encourages them to get educated about the benefits of signing up for the confidential service.
- The Registry receives and processes hundreds of Gaucher questions that lead to better research. Examples of past questions include age at which Gaucher was diagnosed in women, number of Gaucher patients with hepatitis and liver cancer, and information about patients with bone marrow or stem cell transplants.
- The Registry fields requests from countries looking to assess the quality of collective treatment in their area.
- Unlike clinical trials or treatment registries that have restricted eligibility requirements, disease registries can collect clinical information in larger, more heterogeneous populations.
- On an individual level, inclusion in the Registry can guarantee that your medical records are better organized and preserved, so that you can make clear decisions.
- Each patient also receives case reports Patient Clinical Summaries (PCS) that depict changes in the patient’s condition and their current position relative to your own treatment goals.
Keep Your Doctor Accountable: Ask if you are Registered!
Within the larger rare diseases community, Gaucher disease patients and their families are among the more enthusiastic supporters of registering health information, according to Mr. Rice. “Gaucher patients are usually on top of their treatment and their care, so they’re interested in almost anything that can benefit the community and their own personal care. I think the overall response has been great from the Gaucher community.”
But don’t assume you are registered just because a medical provider mentioned it in the past. Mr. Rice explains that a fair number of providers start the process, only to let it go later due to lack of technical support or staffing.
He says that a surprising number of the Gaucher patients he encounters believe they are entered in the Registry, but have never been registered, or have an inactive status due to medical staff neglecting to keep the process going. If you are filling out a quality of life survey (SF-36) every six months, that’s a good indication that you are being actively followed in the Registry. If you are in doubt about your status, Mr. Rice recommends a proactive approach. “Next time you go in for an appointment, just ask to make sure that you are being actively followed,” he says.
To ensure your information is being captured, contact your Gaucher specialist and inquire if this is currently being done. If not, discuss if your Gaucher specialist can ensure your information is being fully entered. You can also reach out to Data Registry Services via phone or email. A staff member will check your status within the registry and report back to you, usually within 24 hours.