Pilot GIDI
Research type
Research Study
Full title
A pilot study to investigate Dentist-led genetic testing for Children with Isolated Dentinogenesis Imperfecta.
IRAS ID
318888
Contact name
Susan Parekh
Contact email
Sponsor organisation
University College London
Clinicaltrials.gov Identifier
reference No Z6364106/2022/07/122 health research , UCL Data Protection Registration Number
Duration of Study in the UK
1 years, 2 months, 31 days
Research summary
'Dentinogenesis imperfecta' ('DI) is an inherited genetic condition that affects teeth. Teeth in DI are discoloured (brown/blue/grey) and break down very easily, causing problems with eating and aesthetics.
A child can either have DI involving the teeth only (isolated DI) or as part of a medical condition that also affects their bones; Osteogenesis Imperfecta (OI) or ‘brittle bone disease’. A genetic test can confirm if a child has OI, but children with isolated DI cannot access genetic testing. It can be difficult to distinguish between isolated DI or DI associated with OI (OIDI) by looking at the teeth, and some children with isolated DI have features of OI, such as hypermobility and hearing issues and may have subclinical OI.
We will offer children with isolated DI a genetic test carried out by their dentist to confirm if they have OI. We want to ask through interviews before and after genetic testing what children and their parents/carers think about dentist led genetic testing for isolated DI. We will also carry out routine dental examinations and simple tests for hypermobility and look at any teeth that have fallen out naturally (if available) under a microscope. We can compare this information (the phenotype) to their genetic test results (the genotype) to understand the genotype-phenotype relationship of isolated DI. It will also help us understand if isolated DI is part of the spectrum of OIDI.
We want to understand our participants experiences of living with isolated DI. This information might help us to improve patient care by giving children access to dentist led genetic testing and improve our understanding of how isolated DI affects our patients. This study is a pilot study with only 5 children from different families and their parents so that we can test if the study design meets our aims.REC name
Wales REC 3
REC reference
23/WA/0219
Date of REC Opinion
22 Aug 2023
REC opinion
Further Information Favourable Opinion