Development of a new blood test for diagnosing the start of puberty
Research type
Research Study
Full title
Investigation of the utility of transcriptomic and epigenetic data for diagnosing the onset of puberty
IRAS ID
310719
Contact name
Beverly Hird
Contact email
Sponsor organisation
Manchester University NHS Foundation Trust
Duration of Study in the UK
2 years, 8 months, 28 days
Research summary
Children with early or late development of signs of puberty are referred to Paediatric Endocrinology at the Royal Manchester Children’s Hospital (RMCH) for investigations to distinguish relatively benign variants of development from disorders requiring treatment. These tests involve the child having a drip inserted into a vein, a medication is given via the drip and multiple blood samples are taken during the next hour. The medication given as part of the test can have side effects such as nausea, headache and abdominal pain. For children who have had many medical procedures in the past, siting the drip and getting the multiple blood tests can be difficult.
Our previous work has identified that we can use a single blood sample to measure gene expression levels (the activity of the genes) in the blood as an alternative way of diagnosing growth hormone deficiency. In this study we plan to investigate if the same approach can be used to diagnose disorders of puberty. A test based on a single blood sample without the need to administer medication via a drip would be much better for patients. In medical practice, the test would be useful if it could demonstrate if true puberty had started and was likely to progress.
This study will recruit children with early or late signs of puberty who are attending RMCH for a Gonadotrophin-releasing hormone (GnRH) test. As part of their routine clinical care a drip (intravenous cannula) will be inserted, and blood samples will be taken from this drip. For study participants an additional 5 mL of blood will be taken at the same time as the routine clinical bloods are collected. This extra blood sample will be used to analyse the gene expression and DNA methylation patterns. Data will be collected from the participants' medical records.REC name
North West - Preston Research Ethics Committee
REC reference
23/NW/0074
Date of REC Opinion
15 Mar 2023
REC opinion
Further Information Favourable Opinion