Premature Ovarian Insufficiency Study (Version1)
Research type
Research Study
Full title
APOLLO - A Premature Ovarian insufficiency study Linking Limited Ovarian function with genomics
IRAS ID
170799
Contact name
Brianna Cloke
Contact email
Sponsor organisation
Kings College London
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Premature ovarian insufficiency (POI) is a condition characterised by loss of ovarian function in a woman less than 40, consistent with early menopause. It causes a number of problems including infertility, heart disease, bone fractures, dementia and an earlier mortality. It is common; affecting 1% of women. There are several known causes including infections, cancer treatment and autoimmune diseases but the pathogenesis remains poorly understood. In an estimated 70% of women the cause is unknown (idiopathic POI). Familial, twin and population studies have shown that genetic abnormalities are likely to play a significant role.
Aim
To investigate the causative genetic factors of POI through blood samples taken from well-characterised POI patients and their relatives at Guy’s Hospital, London. Genetic factors that will be investigated include germline and mitochondrial DNA. Advanced next generation sequencing machines will be utilized to identify causative gene abnormalities. This will be complemented by developing a clinical registry of POI patients which will provide a better understanding of the phenotype of this disease and its pathophysiology.Patient benefit
Mapping out the genetic landscape of POI will not only assist us to understand the molecular mechanisms affecting ovarian egg development but will be essential to help design novel treatments for future studies. Biomarkers may be elucidated thus allowing prediction of this disease before the medical consequences ensue; this is pertinent in light of an increasing number of women delaying childbirth. Up to 5% of women with POI do achieve a spontaneous pregnancy and this study will allow for the identification of markers associated with remission. Lastly, a thorough understanding of the genetic basis of this disease will lead to the development of gynaecological genetics services where patients and relatives can be offered appropriate counselling. This study will provide health and economic benefit to the patient and NHS, respectively.REC name
London - Stanmore Research Ethics Committee
REC reference
16/LO/1208
Date of REC Opinion
14 Jul 2016
REC opinion
Favourable Opinion