Written By Michael Stewart

On November 15, 2024, the Osteogenesis Imperfecta Federation Europe (OIFE) hosted its third virtual European Investigator Meeting. This event brought together researchers, clinicians, patient representatives, and industry professionals from Europe and beyond, all dedicated to advancing osteogenesis imperfecta (OI) research. The meeting aimed to highlight new OI research, facilitate collaboration between clinical and basic researchers, and support the younger generation of OI researchers. It reached more than 210 participants from fifty countries, the largest Investigator Meeting audience ever. 

The meeting featured a series of insightful presentations and discussions, showcasing cutting-edge research and innovative approaches to understanding and treating OI. Sessions were organized into four major thematic sessions: Knowledge gaps in OI – inflammation, bone, and pain; Extra-skeletal issues in OI; Extra-skeletal issues and ageing in OI; and Submitted Abstracts.

Presentations included the following: 

  • How Can You Use Data From the IMPACT Survey in Your Research? – Ingunn Westerheim & Ines Perez
  • Pain Mechanisms in Heritable Collagen Disorders: Insights Gained From the Ehlers Danlos Syndromes – Fransiska Malfait, MD, PhD
  • Sensory Innervation of Human Bone: Where Does the Pain Come From? – Jorrit-Jan Verlaan, MD, PhD
  • Cardiovascular Health in Osteogenesis Imperfecta: Implications Before Birth and Beyond – Sara Verdonk, MD, PhD Candidate
  • Tendon Properties in Mice With Haploinsufficient OI – Dimitra Micha, PhD
  • Respiratory Health and OI – Marelise Eekhoff, MD, PhD
  • Impaired Muscle Parameters in Adults With Mild to Severe Types of OI – Marie Coussens, PhD
  • Understanding OI in Adults – Eric Orwoll, MD
  • Impact of Aging on Muscle-Tendon-Bone Unit in the Osteogenesis Imperfecta (oim) Mouse Model – Charlotte Phillips, PhD
  • Extra Skeletal Manifestations in Adult OI – Jannie Hald, MD, PhD

Throughout all these topics, participants engaged in dynamic exchanges of knowledge, sharing expertise during the “Question and Answer” periods and in the Zoom chat. The virtual format provided a platform for both established researchers and early-career investigators to share their findings and connect with peers, furthering the collective effort to improve outcomes for individuals with OI.  Nineteen abstracts were also submitted for presentation, and the selecting committee was proud to include nine abstracts, covering both basic and clinical research.

The nine abstracts that were presented included: 

  • Bone Phenotype in a Novel Mouse Model of Mild Haploinsufficient Osteogenesis Imperfecta – Laura Ventura
  • In Vitro Testing of a Novel Chemical Chaperone to Target Intracellular Stress and Impaired Matrix Deposition in Osteogenesis Imperfecta – Nadia Garibaldi
  • Increased Dosage of Anti-Siglec 15 Antibody Acts as a Bone-Formation Agent and Anti-Resorptive in Adult Mice With Moderate-to-Severe Osteogenesis Imperfecta – Priyanka Kothari
  • Exploring Multiomics in Osteogenesis Imperfecta Using the Skeletal Atlas: A Web Tool to Explore Omics Data Across Skeletal Diseases – Jose Miguel Perez-Tejeiro
  • Postoperative Non-Invasive Blood Pressure Monitoring for Patients With Osteogenesis Imperfecta Is Safe and Feasible – Jeanne Franzone
  • Intestinal Adaptations in Mouse Models of Osteogenesis Imperfecta – Josephine T. Tauer
  • A New Mouse Model to Dissect the Contribution of Intrinsic Lung Defects Versus Extrinsic Skeletal Defects to Impaired Lung Function in Osteogenesis Imperfecta – Roy Morello
  • Does It Have to Be “Lethal”?: Outcomes of Infants With OI at a Pediatric Hospital With an OI Center – Ricki Carroll
  • Best Practice Management Guidelines for Adults With Severe Osteogenesis Imperfecta (OI): A Consensus Statement From a Multi-Disciplinary Working Group – Kaiyang Song

The OIFE thanks PuREC for their sponsorship and Mereo Biopharma for their grant support in making this meeting possible. We also thank the speakers for their exceptional contributions, the organizers and hosts for their meticulous planning, and the attendees for their active engagement throughout the event. The collective expertise and dedication of everyone fostered a collaborative platform for advancing osteogenesis imperfecta research.