- In May 2024, the U.S.-based nonprofit MHE Research Foundation launched a new national awareness and education campaign across pediatric hospitals, aimed at promoting early diagnosis of Multiple Hereditary Exostosis through genetic screening and orthopedic evaluation. This initiative highlights the growing emphasis on early intervention and coordinated care in rare skeletal disorders and aims to improve long-term outcomes by supporting timely and accurate diagnosis for at-risk children
- In April 2024, Children’s Hospital of Philadelphia (CHOP) announced the expansion of its Orthopedic Genetics Program, which includes enhanced diagnostic pathways and personalized treatment planning for MHE patients. The program integrates genetic testing with surgical consultation and long-term orthopedic monitoring, positioning CHOP as a leader in multidisciplinary care for hereditary skeletal conditions
- In March 2024, Mayo Clinic initiated a clinical research study focused on understanding long-term complications and surgical outcomes in adults previously diagnosed with MHE in childhood. The study aims to generate evidence-based guidelines for lifelong orthopedic monitoring and inform future therapeutic advancements for skeletal tumor prevention and management
- In February 2024, Canadian-based SickKids Hospital introduced a rare disease genetic panel that includes EXT1 and EXT2 mutation screening for early MHE detection. This addition to the hospital's pediatric genetic services demonstrates growing investment in precision medicine across Canada and a shift toward earlier, more targeted interventions for hereditary bone disorders
- In January 2024, the National Institutes of Health (NIH) provided funding to support the development of a centralized North American MHE Patient Registry, aimed at improving clinical trial recruitment, tracking disease progression, and fostering cross-border collaboration in research. This initiative reflects the region’s strategic focus on data-driven advancements and collaborative approaches to rare disease treatment and care innovation
