The Giannina Gaslini Children’s Hospital in Genoa, Italy, has played a leading international role in research into fibrodysplasia ossificans progressiva (FOP), an ultra-rare genetic disease characterised by the progressive formation of bone in soft tissues following painful inflammatory episodes.
The results of the Phase 3 OPTIMA clinical trial have been published in the prestigious scientific journal The Lancet.
The study demonstrated the potential of garetosmab, a new drug targeting activin A, a molecule involved in abnormal bone formation, to safely halt disease progression.
At the Giannina Gaslini Institute, the publication’s first author is Dr Riccardo Papa of the Rheumatology and Autoinflammatory Diseases Unit, directed by Professor Marco Gattorno.
The unit enrolled and treated the largest number of patients in the study, thanks to close collaboration with FOP Italia, the patients’ association for which Dr Papa serves as clinical liaison. The Clinical Trials Centre, directed by Dr Valeria Antenucci, and the healthcare professionals working in the Institute’s Day Hospital also played key roles.
The study’s findings led to the approval of the treatment in the United States on 19 August 2026. A similar decision from the European Medicines Agency is expected in the coming months.
The Giannina Gaslini Children’s Hospital’s participation in the OPTIMA study marks the culmination of a long research journey that began in the Institute’s former Rare Diseases Unit, led by Dr Maja Di Rocco. She first recognised the drug’s potential and initiated its clinical development through the Phase 2 LUMINA-1 study in 2018.
FOP is an extremely rare, severe and complex condition. The formation of new bone is preceded by painful inflammatory swellings and leads to progressive loss of mobility.
As the disease advances, patients may lose the ability to walk and chew and may eventually experience life-threatening breathing difficulties. Managing the condition requires specialised expertise, compassion and close collaboration among medical and nursing teams, psychosocial professionals and biotechnology researchers.
The LUMINA-1 and OPTIMA studies demonstrate how research networks involving patient organisations, hospitals, universities and pharmaceutical companies, at both national and international levels, are essential to achieving meaningful progress in rare-disease research.
For the Giannina Gaslini Institute, this scientific achievement underscores its ongoing commitment to advancing research and improving care for children affected by rare diseases.
