Clinical Trials & Research Studies
ERN BOND supports the development of investigator led studies in rare bone disorders, in particular in the selected exemplar conditions: osteogenesis imperfecta, achondroplasia and X-linked hypophosphatemia. This objective covers both clinical trials of investigational medical products and research studies not involving drugs.
The thematic working group on Clinical Trials (WG4) supported the development of a study protocol for “Matrix-directed therapy in Osteogenesis Imperfecta” – the MOI study – to conect4children in the autumn of 2018. Preliminary approval for the study was granted by c4c in April 2019. The study utilised a licenced liquid preparation of losartan produced by Merck. In June 2019, Merck withdrew liquid losartan from sale. The MOI study team were able to source an alternative liquid losartan preparation produced by a specialist provider, Rosemont Pharmaceuticals. However, the new preparation was unlicensed; c4c took the decision in late November/early December 2019 to withdraw funding from the MOI study as they felt we would not be able to deal with the licensing issues and complete the study within the time period (up to end November 2023).
WG4 members also supported the development and conduct of a study to:
– validate the existing paediatric OI Quality of Life tool,
– ascertain child and parent priorities for research in OI.
Funding for these studies came from the Dutch Foundation “Care for Brittle Bones” (C4BB).
- are engaged with pharma-sponsored intervention studies using vosoritide (Biomarin) in the treatment of children with achondroplasia.
- are undertaking natural history studies of achondroplasia funded by Biomarin, Therachon, Ascendis and QED.
- are contributing to registries funded by Alexion (for hypophosphatasia) and Kyowa-Kirin (for X-linked hypophosphatemic rickets).
- have had site initiation visits for the Ascendis and Shire studies of rPTH in hypoparathyroidism.
- participating in the Amgen-sponsored study of denosumab in children with osteogenesis imperfecta.
In addition, individual members have investigator-led studies of:
- Muscle function and bone parameters in patients with osteogenesis imperfecta;
- Physiopathology, Epidemiology and Genetics of primary pArathyroid hormone deficiency and reSistance: a mUlticenter italian Study (PEGASUS) Funded by the Italian Ministry of University and Research (MIUR);
- Pseudohypoparathyroidism and related diseases: identification of novel molecular determinants, search for genotype/phenotype correlation and improvement of genetic counseling. Funded by a research grant from Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico.
There is on-going work by individual HCPs interacting with industry to take forward studies.
The result in respect of the MOI study is that the MOI study team is now looking at ways to a) licence the Rosemont preparation and b) secure funding from an alternative source for the study.
The result in respect of the C4BB-funded study is that the preliminary results were presented at the “Quality of Life 4 OI” conference in Amsterdam on November 22nd 2019; the results are being written up with a view to publication.
The other studies are in set up or on-going.