A global online Angelman syndrome registry that Australian researchers started in September 2016 has researched a critical mass, its founders report.
Two hundred eighty-six people joined the registry in its first eight months. That number should not only help facilitate research but also help scientists identify patients who might want to take part in clinical trials. Finding trial participants is becoming particularly important at a time when more treatment approaches are being developed.
Murdoch University researchers wrote an article about the registry in the Orphanet Journal of Rare Diseases. The title was “A web-based, patient-driven registry for Angelman syndrome: the global Angelman syndrome registry.”
The Foundation for Angelman Therapeutics Australia is the organization that actually started the registry in September 2016. Researchers used the Rare Disease Registry Framework to set it up. The open-source tool helps researchers create and manage patient registries.
Patients’ parents or guardians are responsible for registering them and providing the informed consent required to enter patient information. In addition to patients’ demographic details, the registry is collecting disease-specific data in 10 categories.
The categories are: newborn and infancy history; history of diagnosis and results; illnesses or medical problems; medical history; behavior and development; epilepsy; medications and interventions; sleep; sleep disturbance scale for children; and pathology and diagnostics.
Some of the information in the categories is being collected over time.
Researchers have taken steps to keep patient data secure. As an example, patients’ demographic information is not stored with the disease data.
Scientists who want to access the information must contact the registry’s data curator. And the registry’s governance board may have to sign off on some requests.
The part of the registry that is collecting information on the disease may have to be tweaked when new research questions arise, those running it said. They said they could do this by adding categories. They also plan to adapt the registry so that non-English speakers can use it.
Another plan is to grant doctors who are treating Angelman syndrome patients access to the data if patients’ guardians agree. This could increase the quality of the information because doctors could confirm patient-reported data, the researchers said.