Graphic data from the Impact surveyMEDICAL

Adult Health resource group

Interview with Eric Orwoll, Professor of Medicine, Division of Endocrinology, Diabetes and Clinical Nutrition, School of Medicine and Dr. Lars Folkestad, member of OIFE’s Medical Advisory Board

Due to common interests in adults with OI, Prof. Eric Orwoll and Dr. Lars Folkestad identified researchers and clinicians who have worked on adult care and formed a resource group. During the summer of 2022 the group started meeting online to discuss a potential collaboration to identify the gaps in knowledge related to adult care.


Tell about this initiative to uncover knowledge gaps in research about adults with OI!

Who is in the group and how do you work?

Due to common interests in adults with OI, we identified researchers and clinicians who have worked on adult care. During the summer of 2022 the group started meeting online to discuss a potential collaboration to identify the gaps in knowledge related to adult care. The aim of the group is to establish a cross Atlantic collaboration between different groups.

The group consists of the Chair Eric Orwoll and members from the US, Laura Tosi, Cathleen Raggio, Sandesh Nagamani and from Europe, Lars Folkestad, Jannie Dahl Hald, Bente Langdahl, Stuart Ralston and Oliver Semler. The OI Foundation (OIF) has been instrumental in facilitating the meetings. They are now held on a regular basis, and several projects are ongoing. The aim here is to become wiser together and share knowledge and experiences to strengthen our research.

What is the mandate and goals?
We do not have an official mandate, but the group members share a common goal – to increase the quality of care for adults with OI. This is a research collaboration. We aim to produce high level publications that will inform decision support for clinicians and patients alike, and to identify priority areas of research to advance knowledge of OI in adults.

You published a position paper called ‘Osteogenesis Imperfecta Is More Than a Pediatric Disorder—There Is a Need for Adult Care Evidence to Guide Clinicians’ – tell us about it!

Our commentary was meant to highlight some of the gaps in knowledge related to adults with OI. We find that ageing adults with OI have unique challenges related to having OI, and that these challenges may differ between different age groups. This needs to be further evaluated. Our commentary highlights a few of these issues and we hope to get funding agencies to share our interest in ensuring that future research is focused on these issues.

We often say that OI is two very different conditions for children and adults – do you agree?
As stated above, we agree with OIFE that different ages have their own challenges. For instance, in children with OI support of growth is essential. On the other hand, adults face challenges that are associated with aging and frailty. In the presence of conditions that are associated OI, ageing may influence adults with OI differently than the non-OI population. Take osteoarthritis for instance, we know that there is a link between risk of osteoarthritis and age – the older you get the more osteoarthritic you become. In OI the collagen defect in itself may influence the risk of osteoarthritis and signs of the condition may come at an earlier age. The next question then, is how we then prevent and treat these conditions in adults with OI.

Graphic data from the Impact survey

The regulators EMA and FDA emphasize counting fractures to prove that new treatments are efficient – what are the challenges around this, especially when it comes to adults?
That is a difficult question. New treatments need to be effective, thus fracture preventing drugs should prevent fractures, right? Studies designed to show a reduction in fracture rates often need to be large, something that is difficult in a rare disease. Furthermore, epidemiological studies of OI have shown that fracture rates go down after adolescence, making it especially difficult in adults to conduct sufficiently large studies to identify a drug’s effect on fracture rates. Even so, fractures are more common in adults with OI than in unaffected people, so studies intended to demonstrate fracture risk reduction are critical.

When and how should bisphosphonates in adults be considered? 
That is another great question, with no 100% correct answer. The decision to initiate treatment is always the result of an individual assessment of the patient based on medical history, imaging, fracture history, family history, and other risk factors. However, while we know a lot about the association between common risk factors, bone density and fracture risk in age related osteoporosis – there is little evidence related to these issues in the OI field. Nevertheless, we try to use the same principles to identify those with OI who are at high fracture risk and consider them for bisphosphonate (or other) therapy. Clearly, this problem needs to be studied in more detail.

There are several initiatives (ERN BOND, Care4BB etc.) working on developing guidelines and recommendations for adults with OI.

Is this even possible to develop official guidelines with the current lack of research?
It is indeed very difficult to confidently develop guidelines without a strong foundation of good research. This is one of the problems that motivated the formation of our Adult OI group. We want to carefully evaluate major areas of concern in OI and to identify critical research needs. Still, even without a complete foundation in research, there is a real need for clinical guidance. So, in addition to identifying research directions, we also hope to use whatever data are available to provide suggestions to help patients and clinicians to manage problems facing adults with OI.

Different countries have different definitions of guidelines – can you explain?
Guidelines are exactly that – guides to ensure the highest quality of care. However, there may be national factors such as number of specialists, scanners, laboratories etc. that may influence what choices clinicians can make related to patient care.

Are recommendations based on best practice more realistic?
Lack of evidence is an important limitation to what the guideline can incorporate, and here best practice or consensus between experts is often the best option in developing guidelines. But again, our body of evidence is based on research on a group or a population. And treatment/follow-up choices for the individual patient are made based on the clinician’s experience, knowledge, and in collaboration with the person seeking help, trying to translate what we know from the evidence into what would be the best option for the individual patient.

What can we do while waiting for the uncovering of knowledge gaps and the following much needed research?
That question makes it sound like we are roaming around in the dark, and that is not true. There is a lot of knowledge available, and new studies are initiated and published almost every day. Our working group is trying to find ways to highlight the knowledge that is available as well as to identify areas where additional studies could help chose between treatments and follow-up regimes with more certainty to improve the quality of life for adults with OI.

Besides those mentioned. What are the main knowledge gaps regarding adults with OI?
Sometimes when you shine your light out in the dark you find things you did not know were there. We all need to listen to the stories that we are told by the adults with OI.
We know that the patient community will keep the clinicians and researchers on their toes to keep the research relevant for the patient community.

How can we as a patient community – help in the most effective way?
OIFE, OIF and Care4BrittleBones are doing a great job by facilitating meetings globally. The organizations’ interest in research and in expanding expertise is invaluable for the scientific community. Participation in the scientific meetings, the discussion at these meetings and the willingness to participate in research project planning, organization, running and knowledge dissemination is much appreciated.

Meeting in Florida

This week, hosted by Osteogenesis Imperfecta Foundation, the Adult Health resource group were gathered in Orlando, Florida to write what will be their 3rd paper together. The Delphi process study will review the current literature related to the risk of and follow up for cardiovascular disease in OI.  The group had some really great discussions during the stay. Unfortunately everyone was not able to come due to the difficult winter weather. The planned meeting therefore went from an on-site meeting to a hybrid meeting, which worked relatively well.

This article (except final paragrahp) was first published in OIFE Magazine 4-2023.

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