rePurposing tReatment fOr Osteogenesis imperFecta
Financed by : Instituto de Salud Carlos III (ISCIII)
Program: ERDERA – Joint Transnational Call 2025 “Preclinical therapy studies for rare diseases using small molecules and biologicals – development and validation”
Project National Reference: AC25/00043
Role in the project: Partner
Duration: April 2026 to March 2029
Contact: Lidiia Zhytnik
Implementation Centre: IBIMA Platform BIONAND
Research group of IBIMA involved: Skeletal Biomedicine Research Group
Abstract
Osteogenesis imperfecta (OI) is a rare disease that makes bones very fragile and prone to fractures. There is currently no approved medicine for it worldwide, apart from bisphosphonates, which are available in Italy and Japan and help slow bone loss. PROOF explores whether RAVICTI, a drug already used to treat the rare urea cycle disorder (UCD), could also help people with OI. Its active ingredient, 4-phenylbutyrate (4-PBA), may relieve the cellular stress caused by the accumulation of faulty collagen and improve collagen production.
To test this, the consortium combines animal models of the disease with human cells grown in the laboratory. The team brings together scientists and doctors specialised in OI, so that promising results can quickly move to testing in patients. The company that makes RAVICTI supplies the medicine for the study, and the project works with Remedi4All, a European organisation specialised in drug repurposing, and with MetabERN, the network of UCD patients already treated with the drug.
People with OI are involved from the very beginning through the patient groups in the consortium, so that the research focuses on real patient needs.
Partners
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- Fondazione IRCCS Policlinico San Matteo (Italy), project coordinator
- Amsterdam UMC, Department of Human Genetics (The Netherlands)
- Karolinska Institutet, Department of Clinical Science, Intervention and Technology – CLINTEC (Sweden)
- IRCCS Istituto Ortopedico Rizzoli, Department of Rare Skeletal Disorders (Italy)
- Tartu University Hospital (Estonia)
- Osteogenesis Imperfecta Federation Europe – OIFE (Belgium), patient advocacy organisation
- Biomedical Research Institute of Málaga and Nanomedicine Platform (IBIMA Plataforma BIONAND)
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Related Links
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- ERDERA JTC 2025 selected projects – erdera.org
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Aknowledgment
This project received funding from Instituto de Salud Carlos III (AC25/00043) under the umbrella of the Partnership European Rare Diseases Research Alliance (ERDERA) (GA Nº 101156595 of the EU Horizon Europe Research and Innovation Programme).