Health Economics in Osteogenesis Imperfecta
Research type
Research Study
Full title
Assessing the Balance of Cost and Determining the Experiences of Families in Paediatric Osteogenesis Imperfecta Healthcare (ABCD Study)
IRAS ID
241429
Contact name
Meena Balasubramanian
Contact email
Sponsor organisation
Sheffield Childrens NHS Foundation Trust
Duration of Study in the UK
1 years, 5 months, 1 days
Research summary
Osteogenesis Imperfecta (OI, or “brittle bone disease”), is a rare genetic disorder, characterised by fragile & easily-breakable bones.
~90% of new cases of OI are due to genetic mutations in one of many collagen genes. The condition is therefore highly variable both clinically and genetically.
Consequently, it can be difficult to diagnose the condition quickly. The condition may be detectable in pregnancy; neonates may suffer from broken bones during labour; and milder types of the condition may present later in life, potentially in adulthood. It is primarily diagnosed through clinical findings, but is confirmed by genetic diagnosis. In some cases, children’s safeguarding protocols may be initiated if there are concerns that broken bones have occurred as a result of non-accidental injury; undoubtedly a distressing experience.
It is therefore reasonable to expect that the diagnostic pathway for OI should be quick and accessed early by patients and their families, in order to maximise the efficacy of treatment & management, informed family planning, and to reduce distress in families. A logical assumption would be that diagnosing the condition as early as possible (i.e. early in infancy/childhood) is also the most cost-effective method of managing these patients. However, no research group has ever evidenced that this is the case.
This research project, therefore, intends to assess the cost-effectiveness of early diagnosis of OI by using the national OI database to collect data about the cost of diagnosis in patients severely affected by OI. This research will be underpinned by questionnaires and interviews with patients and their families to develop a stronger understanding of the experiences of the diagnostic journey, which we anticipate will suggest a need for service users to receive a diagnosis as early as possible. This would theoretically have implications for future funding and multi-disciplinary service development both locally and nationally.
REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
18/NE/0230
Date of REC Opinion
4 Jul 2018
REC opinion
Favourable Opinion