Interview with
Ralph J.B. Sakkers, MD, PhD, Paediatric Orthopaedic Surgeon,
Department of Orthopaedic Surgery, University Medical Center Utrecht, The Netherlands
& Simona Paveri and Leonardo Panzeri, Italian OI-association As.It.OI

What was the purpose of the project “Roadmap to Surgery in OI”?

Dr. Sakkers: Purpose of the project Roadmap to Surgery in OI was to create a roadmap for a standardized, integrated approach for optimal outcomes of surgery in OI, not only from a surgical view, but also from the patient’s perspective, that can be used in all infrastructures and cultures. The roadmap has been endorsed by the Study Group Genetics & Metabolic Diseases of the European Paediatric Orthopaedic Society and by the Executive Committee of the Osteogenesis Imperfecta Federation Europe and the Care4BrittleBones Foundation.

The article is open access and can be found here: https://www.tandfonline.com/doi/full/10.1080/17453674.2021.1941628

How did you work?

Dr. Sakkers: The international interdisciplinary task force included members from European patient organizations and 12 healthcare professionals (HCPs) in orthopedic surgery, rehabilitation medicine, and nursing from centres recognized worldwide as leaders in the interdisciplinary care of OI. The task force developed a survey on issues around OI surgery (defined and discussed by the members) who then consulted other experts worldwide. All the responses, and the subsequent group discussions among the task force members via 9 conference calls, formed the consensus expert opinion. A set of recommendations for surgical care was then drafted and discussed at a day-long workshop during the International Conference for Quality of Life for Osteogenesis Imperfecta in Amsterdam, the Netherlands in November 2019. The recommendations were subsequently circulated to members of the Study Group on Genetics and Metabolic Diseases of the European Paediatric Orthopaedic Society and the OIFE for endorsement.

What did the people with OI contribute with vs. the professionals?

Dr. Sakkers: The collaboration between people with OI and professionals was very good, not only during the group discussions in the task force, but especially also in the day-long workshop during the International Conference for Quality of Life for Osteogenesis Imperfecta in Amsterdam where many patients from many different countries and different continents were present. One of the very important contributions from the patients among other contributions were the descriptions of the different socio-cultural environments and the descriptions on how these differences influence the possibilities for, and needs and personal experiences of the different patients.

Leonardo and Simona: A specific strategy was adopted by us to represent the patient perspective. During a 10 year period, lots of OIers (both adolescents and adults) and/or their families have contacted the Italian organization ASITOI to prepare themselves of surgery. Especially surgery of the long bones or the spine. Most of their questions, fears, problems, expectations have been deeply discussed both with them and with professionals.

The discussions held with professionals has been made both on an individual basis but also on a more generic level. This on issues common to many OIers, taking into account the age, type of OI as well as other factors. We have collected the various questions and expectations to try and provide the most comfortable and comprehensive environment for OIers in hospitals, rehabilitation centres and at home as for the pre-surgery, surgery and post-surgery phases.

We used this background and experience in the discussions to establish the roadmap. And we compared our input with the comments and observations by professionals from other countries. It was a very good experience.

What are the biggest challenges in OI surgery today?

Dr. Sakkers: That is not an easy question to answer. In general, the surgical management of the brittle bone in all types of surgery in OI remains a challenge.

Simona and Leonardo: The biggest challenge is the maintenance of good interactions with surgeons in addition to increasing the skills of the persons with OI in order for them to interact with surgeons. What do we mean by this? Well, it’s important to have a good enough understanding of OI surgery including a knowledge of those technical words which are often used by surgeons and specialists. This in order to be in a position to understand what is happening, etc. On this background it is important to continue to speak about these topics during national conventions and meetings with OIers in order to increase their skills and understanding of terminology in this field.

What are the biggest knowledge gaps?

Dr: Sakkers: The biggest knowledge gap in OI is the still existing considerable lack of knowledge on the multifactorial process and interactions that take place from the gene to the formation of the actual bone/skeleton. For example, in families with OI, the same mutation in the cells can lead to large differences in severity of OI among the family members that have the same mutation.

This meaning that the mutation in the coding for collagen only starts an interaction process of which the subsequent components and their interactions and effects are still largely unknown, not only for OI bone, but also for normal bone. This subject is not directly addressed in the Roadmap, since the surgery can be helpful for the patient as a support, but is not the solution for the brittleness of the bone.

Simona and Leonardo: Most surgeons still have no knowledge at all on OI, which is natural since it is a rare disorder. But more importantly – a big challenge is due to the fact that there still are surgeons who decide to do surgery on or treat OI patients, even if they have no knowledge or experience in OI, without seeking advice from someone who has experience. For this reason, it is important for patients to have a good basic knowledge package. Another gap is the lack of unified measurements of outcomes in surgery. In this context, the Key4OI project seems promising or at least a good starting point.

A more general knowledge gap in OI – we lack knowledge on basic research. More focus on this could lead us to an effective treatment for OI in future. However, the continuous interaction with institutions, pharma companies, ministries of health, etc. is of great importance for patient organizations. We need to be involved at the time when new treatments/drugs are tested and we need to take a more active role in the risk evaluations of new treatments and methods.

Were there any surprises during the process?

Simona and Leonardo: During the process of the surgery roadmap, we were really surprised about the fact that in some countries, especially Canada, the patient’s point of view and the one of the family members, was already part of an integrated approach. We were really impressed by this, in a very positive way. Apart from this, we have been really impressed by the positive reactions from adolescents who have actively participated and have played an active role to discussions, being able to speak about themselves and the problems they must face.

Can you give a very short summary of the recommendations?

Consensus on recommendations was reached within 4 themes:
• the interdisciplinary approach
• the surgical decision-making conversation
• surgical technique guidelines for OI
• the feedback loop after surgery

The interdisciplinary approach was subdivided in the topics “Patient view” and “Health Care Professional checklist”. The surgical decision-making conversation focused on shared decision making and an individual approach for each case, taking into account cultural variations and values, the role of the decision maker and local regulations. Surgical technique guidelines were subdivided in the topics General, Lower Extremity, Upper Extremity and Spine.

The feed-back loop after surgery explained the importance of the evaluation of both clinical and patient-reported outcomes by using core outcome measurement tools that can be used globally such as the Key4OI Standard Set of Core Outcome Measurements for OI.

This article was first published in OIFE Magazine 4-2021.