How clinical work, registries, research, guidelines and quality improvement are connected

Interview with Lena Lande Wekre, M.D. in the Skeletal dysplasia team at TRS National Resource Centre for Rare Disorders, Norway

Who are you and where are you currently working?

My name is Lena Lande Wekre and I am a Medical Doctor in the Skeletal dysplasia team at TRS National Resource Centre for Rare Disorders. I’m involved in the project of developing The Norwegian Registry for Rare Congenital Bone Diseases, which is a combined quality- and research registry where our endeavour is to map persons with rare bone conditions and follow them over time in a lifetime perspective.

I am working together with physical therapy specialist and coordinator for the registry, Anne Marthe Svendsen Rysst-Heilmann and Associate Professor Joachim Horn at the Section of Children’s Orthopedics and Reconstructive Surgery, Oslo University Hospital, OUS (both in photo).

What is the purpose of the Norwegian registry?

The main purposes are

  • To provide data for research at a national level within different subgroups of patients with skeletal dysplasias. By this we hope to increase the knowledge of epidemiological conditions, disease mechanisms and interactions between genetic, environmental and clinical factors affecting the diseases.
  • To secure the quality of drug therapy and other treatment.
  • To identify, implement, monitor and optimize treatment and services for persons with rare bone conditions in Norway.An important side purpose is to adapt our variables to those, which will be considered for the European registry (EuRR-Bone), to give us the possibility to map and compare different aspects of different diagnoses and treatment given in different countries.

In which way does this registry/database differ from the patient database you have in TRS?

The database at TRS is more a patient record system and does only contain an overview of those who want to register at the centre and use our services. The TRS database does not register data systematically over time as you do in a registry.

How is the registry managed and funded?

The registry is a collaboration between the Section of Children’s Orthopedics and Reconstructive Surgery at Oslo University Hospital, who is the owner of the Registry, and TRS National Resource Centre for Rare Disorders. The registry is funded by Oslo University Hospital (OUS). However, TRS has so far funded 20% of costs related to a registry coordinator to facilitate the collaboration between the healthcare service at OUS and the competence service at TRS.

Multidisciplinary collaboration at Oslo University Hospital

Who can get registered and how?

In principle, all persons in Norway who have a rare skeletal disorder, all age groups included. However, we will probably try to start with the same diagnostic groups as EuRR-Bone (OI, XLH, Achondroplasia, FD/MAS and MO). The patients will be asked to register when coming to a consultation at the Children’s Orthopedic department or to one of the special outpatient clinics for OI, Achondroplasia or Skeletal dysplasias. We will also ask all the users (patients) of TRS, who are relevant for this registry, if they want to register. It will also be possible to contact us directly, or through your GP, or other doctor.

In what way do you get the data?

We will use a combination of historical data from the patient’s records, and new data delivered by the clinicians during a consultation. Then we will have patient reported data from the patients themselves, filling out several forms.

What is the biggest challenge when setting up a new registry?

To decide what we want to know – which, and how many, data variables we should collect. And, to get the best possible coverage. Which in turn requires that both professionals and patients know about the registry – and use it.

Do adults with OI have see a specialist on a regular basis for a registry to work?

It would definitely help if adults could also see a specialist responsible for a holistic follow-up on a regular basis. For the time being, we have to collaborate closely with the person having the diagnosis and their family doctor/GP. We have not yet decided if we will send out a follow-up survey regularly to those who are registered (ex: every 3rd year) to collect updated information.

Illustration of Key4OI

Are you planning to use Key4OI in your new registry?

Yes, we will use/collect most of the data from Key4OI, like the variables about the diagnostic process, fractures, surgery, treatment, function in daily life etc. We will also try to use the same PROMS (patient reported outcome measures) as described in Key4OI (for example for pain, fatigue and social functioning) among other things to avoid duplication of work – both for professionals and for those who have the diagnosis.

You once said that “everything is connected” – outcome measures, registries, clinical work and guidelines – what did you mean by that?

I think I mean exactly that. Everything is, or should be, connected. One decision should always be based on another. I see the ideal follow-up of people with OI as a circle, or maybe more like a spiral, which begins and ends with the person who have the diagnosis. In other words. If you see several patients with a specific diagnosis at your clinic, do the clinical examinations and treatment systematically! Collect the information in a registry and use this information for research and quality improvement. Then update the treatment protocols and guidelines based on your findings. After that you go back to your patients and use the updated version. Then you have gone through the circle. But every time you do it, you start on a higher level – hence the spiral.

Will the new Norwegian registry be connected to any international registries?

Yes, as we said earlier, we do hope to connect with EuRR-Bone. We will also look into more diagnosis specific registries internationally and see whether it is relevant to compare data or do projects together.

Photo of Nordic looking woman with white hair and blue sweater standing next to a pile of rocks.
Lena: “To build a registry is to lay stone upon stone”

What are the biggest knowledge gaps in OI today?

Compared to what we knew 10-15 years ago, we have much better knowledge regarding several areas concerning OI today. However, there is still a way to go to get enough and systematically collected data, which may form a basis for creating the best guidelines for treatment and follow-up across borders. I think some of the biggest knowledge gaps today are knowledge about soft tissue problems, women’s health and sexual challenges for people with OI. Another gap is more unified treatment protocols for both adults and children.

Any messages for the readers of the OIFE Magazine?

Dear friends, if the registries are to be as good and useful as possible, then both professionals and people who have the diagnosis must pull the workload together. We all have to contribute to new, systematic and important knowledge.

Link to the new Norwegian registry: