New PhD: Extra skeletal complications in OI

New PhD in OI – Extra skeletal complications in OI
Interview with Silvia Storoni

Who are you & what is your relationship to OI?Woman with long blonde hair

I am Silvia Storoni, a physician specializing in internal medicine with a particular interest in endocrinology. A few years ago, I came in contact with Dr. Marelise Eekhoff and Dr. Dimitra Micha, who inspired me with the research projects conducted at Amsterdam UMC on OI. What struck me about OI and motivated me to continue this path is the fact that there is still too little known about this condition. I find it important that patients with OI receive the right attention. Despite being a relatively rare condition, research should aim to understand not only the skeletal but also the extra-skeletal issues in OI patients which also affect their health a lot. Only through this knowledge, new effective therapies can be found. By extra-skeletal, we mean issues that does not relate to the bone/skeleton, but has to do with soft tissue.

Can you tell us about your PHD project?

During my PhD, I initiated and completed various diverse projects. The common thread among them was the exploration of extra-skeletal complications in OI patients. We conducted a large study on the entire Dutch OI population (over 800 people) to understand how many hospitalizations are truly related to extra-skeletal complications. Other projects aimed to understand the relationship between genetic defects and clinical symptoms. A major project involved the TOPAZ trial, where we proposed Teriparatide as a new therapy for adult OI patients.

Book coverIn my dissertation, I included 8 articles published between 2021 and 2023. The first 3 articles focused on the Dutch OI population and hospitalizations, comparing them with the general Dutch population. The next 3 articles concentrated on OI lungs, exploring what is known about lung OI pathology, lung histology, and the development of an innovative clinical diagnostic method to measure lung function in OI. The last articles focused on genetics, describing new genetic defects in OI patients.

The entire project was financed with funding from various projects and grants, and each project used different methods. For example, the first three articles involved matching information from all OI patients in the Netherlands with a genetic diagnosis with statistics from CBS (Centraal Bureau voor Statistiek). We collected anonymous information about hospitalizations, outpatient visits, and medication use in OI patients and compared it with the general population.

The DOI-link of the thesis can be found here:

Why did you choose to focus on other issues than bone?

I chose to focus on other tissues because there is a lack of knowledge about these tissues. Unfortunately, although extra-skeletal complications seem less debilitating than bone issues, they significantly reduce the quality of life and can be as debilitating as bone problems.

What were your most interesting findings?

Some of the most interesting findings revolve around pulmonary complications. For the first time, we demonstrated that lung tissue in OI may have intrinsic alterations, especially in lethal forms of OI. This needs further study in other types. It is important to be aware that collagen type 1 can have a significant effect on lung development and structure which warrants attention and monitoring.

What is the most important take-home message?

The most important take-home message for clinical work is that patients must conceptually agree with the study. This helps them to be actively involved, which increases the success of the clinical study in providing meaningful outcomes for the patients.

Were patients/patient organizations involved?

Yes, and we strive to increasingly implement this aspect. Involving patients and organizations is crucial to understand patient needs and priorities, and to inform them about new therapeutic options and research findings.

Group Photo with graduates

What are you currently doing and what future plans do you have?

Currently, I am continuing my specialization in internal medicine and endocrinology. Alongside this, I am involved in more studies exploring extra-skeletal issues, with a particular focus on the heart and lungs. We are trying to study and introduce a new clinical method to assess lung function quickly and easily in OI patients, which can prevent the detection of lung complications when it is too late.

In your opinion, what are the biggest knowledge gaps in OI?

Areas where there is still much to learn include extra-skeletal complications and the correlation between genotype and phenotype. Better understanding of these aspects is crucial for developing new therapies and improving clinical care.

Any messages for the readers of OIFE Magazine?

The message I would like to convey, both to medical professionals and patients or patient families, is the importance of collaboration. Collaboration between different research centres and between doctors and patients or patient associations is essential. Researchers need to know the needs of the patients, in order to direct research in that direction. And patients need to understand the challenges and recommendations of the doctors.

This article was first published in OIFE Magazine 1-2024.

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