OIF Annual Scientific Meeting 2025 in Chicago
“Translating discoveries into therapies”
Written by Lidiia Zhytnik, OIFE Advisory Board Member

The 25th annual OIF Investigator meeting took place 9-11 of April 2025. Traditionally held in Chicago, the OIF investigator meeting invites more than 100 top (almost exclusively) US and Canada scientists and clinicians working on improving quality of life for OI people. The purpose is to share the latest knowledge, discuss trends in OI research and treatment, and establish new connections that can lead to high impact projects. The board of the OI Foundation (OIF) were present during the event to meet researchers, share their experiences and to learn about latest investigations in OI. OIFE sneak-peeked OIF’s scientific meeting this year via Lidiia Zhytnik, member of OIFE’s advisory board.

The meeting chairs of this year – Ronit Marom (MD, PhD, Baylor College of Medicine, Houston, TX) and Roy Morello (PhD, University of Arkansas for Medical Sciences, Little Rock, AR) prepared an excellent intense three-day program covering all significant developments in OI: bone biology, OI extra-skeletal challenges, novelties in lab models, diagnostics and therapeutics. Meeting included news from OIF to keep the research community up to date with US OI activities, BBDC (a brittle bone disease consortium active in US for more than 15 years) and industry (Amgen, Ultragenyx, Angitia, Boost biopharma). Additionally, a session from early-stage investigators and a panel on pregnancy and young patient management enriched the meeting program.

Keynote address “Drug Repurposing in OI” was given by Nicholas Bishop (MD, FRCPCH, University of Sheffield, UK). Prof. Bishop presented an ongoing clinical trial of Losartan (meant to use for high blood pressure originally but also reducing bone fragility). While testing in other disorders, researchers noticed, that the drug improves skeleton and muscle, so after successful testing Losartan in the lab, an approval to test it in people (aged 16+) was received. The trial is ongoing (Phase II) and supported by Remedi4all project (an EU platform for drug repurposing, supported with EU commission). Recruitment of patients will start soon in Italy (see this page for more information).

Bone biology session draw more attention to skeletal stem cells and their impairment in OI, studied by researchers from Baylor College of Medicine (Houston, TX) and Weill Cornell Medicine (New York, NY). Originally skeletal stem cells were discovered in 2018. However now researchers found that OI’ers might have more of these skeletal stem cells, and their ability to form bone cells is impaired. Studying in-depth skeletal stem cells also helped researchers to identify new targets which will be useful to develop therapies. Especially schnurri 3, about which we will definitely hear more in the upcoming years.

Via studies of skeletal and other stem cells we learned more about fracture healing and cells participating in the process, which will help to support bone healing. Researchers from the Medical University of South Carolina (Charleston, SC) presented their study of autoimmune aspects of OI.

Considering immune and inflammation components of OI is a relatively new perspective, which already resulted in therapy ideas and clinical trials (like Losartan). This is also very important for the understanding of the pain component in OI, which potentially can bring a desired chronic pain relief. Aspects of pain become more and more recognized by researchers with the help of the IMPACT study, which was presented by Melanie Anderson (Wickenstones) during the meeting. Researchers not only cite IMPACT in their presentations acknowledging impact of pain in life with OI. But they start to study pain more in their preclinical studies and even involve it as an outcome measure in clinical trials. This is especially complicated, as pain has a complex and subjective nature.

Researchers also created a couple of new mouse models (for Cole-Carpenter syndrome, genetic OI type XII, OI type 1). OI is very different, so these mouse models will help to study various OI mechanisms and bone in different OI types. This is needed to develop therapies specifically for each OI type and defect.

New and already established concepts to OI treatment were presented during the meeting: antibodies and molecules enhancing bone formation (targeting sclerostin, dickkorpf-1, myostatin, activin A) or decreasing bone degradation (targeting siglec15). University of Pavia (Italy) presented a study on modified 4-PBA in zebrafish and showed beneficial effect on both process of bone metabolism.

Many treatments which were effective in preclinical trials unfortunately fail to work in humans during clinical trials. And this is normal, as human organism is different from preclinical models. Secondly, we need options in therapies, as OI is different. Each OI type might need its own effective therapy eventually. People have different age and health status. And medical reimbursement resources in the country of living and other factors also influence the need for options. All ongoing studies give us more chances to develop good therapies for each person with OI. We hope to hear even more of current and additional treatment developments during world conference OI2025 in Hong Kong this October.

Looking into the future and personalized medicine, researchers from the UMASS Chan Medical school (Worcester, MA) presented their promising work on gene therapy development for OI type 3. Although techniques still need a lot of refinement, researchers were able to repair the mutation in living mice using CRISPR/Cas, decrease number of deformities, improve bone mass and even teeth of OI mice for the first time. This is a very important milestone in development of gene therapy for OI, although still a long way and efforts needed before first clinical trials.

A new method to diagnose OI via urine-derived cells was introduced by Shriners Hospitals for Children (Montreal, Canada). Canadian researchers showed that it is possible to isolate cells from urine, grow them in the lab and perform additional genetic and functional tests in cases of unknown genetic causes of OI. Previously for these purposes scientists used skin biopsies, making analysis easier and safer for OI people.

Clinical talks focused on respiratory, pulmonary and cardiovascular issues in OI, studies by clinicians from Children’s Hospital (Denver, CO), UT Health (Houston, TX), UCLA David Geffen School of Medicine (Los Angeles, CA) re-confirming presence of risks in OI people. Important study was conducted by BBDC, on fracture rate in OI. Although we all know that there are increased risks of fractures, researchers set important numbers of that risks. It can be later used in clinical trials, as EMA and FDA (medicine approving agencies) need solid argumentation to prove efficacy of treatments before approval.

An interesting clinical trial of Mindful self-compassion programme was announced by Children’s Hospital of Eastern Ontario, University of Ottawa (Ontario, Canada). The pilot showed very promising results in reducing pain (not peer-reviewed version of the article), and studies will be continued with higher number of individuals. The approach justifies efficacy not only of medical management of pain in OI, but valuable additional benefit from learning of mindfulness and self-compassion. Based on principles of neurobiology, these techniques help to increase emotional resilience and pain acceptation, resulting in better well-being.

The OIF’s scientific meeting showcased excellent ongoing projects from US and Canada, that OI researchers have been working on for many decades. Christine Rossi, the President of the OIF Board of Directors, stated in her welcome speech to the OI professionals: «We would like to thank you for choosing OI as your career. You could choose any disorder, but still stay with OI”, summarizing dedicated and high-quality research presented with US and Canada OI research community.»

You may also check if your medical professionals might be interested to join the following professional networks which were advertised during the meeting:

OI and rare bone disease tele-echo clinic series – monthly zoom webinars for clinicians about cases followed with discussion. Previous webinars available on YouTube as recordings.

There is also an International Surgeons OI study Group – sharing of experience between surgeons working with OI patients.

This article was first published in OIFE Magazine 2-2025.