PROOF

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

Related Links

          • ERDERA JTC 2025 selected projects – erdera.org

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).