OI-registries in the USA
In OIFE Magazine 2-2021 we published an interview with Brendan Lee, M.D. Ph.D., Baylor College of Medicine, Houston, Texas about OI-registries in the USA.
In Europe we are developing the EuRR-Bone – which OI-registries do you have in the US?
There is a contact registry with ca 2500 individuals signed up, which is sponsored by the OI Foundation (OIF). The main purpose is to keep patients informed on development in OI, but it is also a mechanism to engage patients in research as full partners. There is also natural history study with close to 1000 OI patients which is the core project of the Brittle Bone Disorders Consortium (BBDC). The OIF finances the contact registry, and the National Institutes of Health (NIH) together with the OIF, support the natural history study as part of the BBDC.
Can people from other countries than the US sign up for the contact registry?
The contact registry is open to anyone in the world and we encourage all to join. It is stronger if it includes OI individuals from all over the world. OI is taken care of differently in different parts of the world and understanding commonality and differences in practices is very important. Similarly, OI’s natural history is different in different parts of the world and understanding how different environment affects this is critical.
What about the natural history study?
Natural history studies are important. Without understanding how a disease evolves with time, we can never know how to prevent and treat complications of the disease. Similarly, we would not be able to develop appropriately designed trials to test efficacy of different interventions. There is now close to 1000 individuals in the study and some people have been followed close to 7 years. We are still recruiting, especially the rare forms of OI. We usually see patients once a year to once every other year. We do many studies that would normally be done as standard of care. We try to align the protocol to standard of care, to minimize burden on families. We collect the data in a systematic fashion which is what makes it a research study. When it comes to patient reported outcome measures (PROMS), we have studied PROMIS, PODCI, and SF12 versions of PROMs.
Do you have patient involvement in the project?
We have extensive involvement as partners in the BBDC. Tracy Hart the executive director of the OIF is a co-principal investigator of the BBDC. The OIF also leads the patient engagement and training elements of the BBDC. Many of our studies beyond the natural history study include focus groups with OI patients.
What have been the most important findings from the natural history study?
The study is by far the largest study of OI patients to date and the information sometimes confirms what has been reported in smaller studies, sometimes changes their conclusions, and sometimes identifies completely new issues in OI. I would direct those interested to go to the BBDC or OIF websites where the publications are listed. There are publications on growth, bone density, craniofacial and dental malocclusion, patient reported outcomes, hearing, mobility, and pulmonary function just to name a few.
In your opinion – where are the biggest knowledge gaps in OI?
The biggest knowledge gaps are still how mutations in collagen and all the other genes actually cause brittle bones and non-skeletal issues. This might sound surprising but knowing which genes that cause a disease, is only the first step in really understanding what the disease affects and how it occurs at a tissue level. This is why natural history studies and registries are so important. It is also why supporting basic science studies is very important.