Genetic Investigations of Rare Disorders of Metabolism and/or Growth
Research type
Research Study
Full title
Genetic Investigation of Rare Disorders of Metabolism or Growth(a Musketeers Memorandum study)
IRAS ID
178343
Contact name
Stephen O'Rahilly
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and University of Cambridge
Duration of Study in the UK
4 years, 11 months, 30 days
Research summary
A small proportion of patients seen in hospital clinics have rare changes in their genes which may produce a wide range of disorders of metabolism or growth. The group studied in this project have rare disorders of insulin action, or related problems. These include rare forms of diabetes, or the opposite problem, unexplained low blood glucose, or hypoglycaemia. The study also extends to other disorders that may be caused by, or affect, insulin action, including growth disorders and polycystic ovary syndrome. This study will focus on the patients with disorders for which there is not an established NHS test, or where such testing has been undertaken without establishing a cause for the patient's problems. The study uses the best of currently available genetic techniques to study patients and close family members where relevant, and aims to recruit from around the UK. This will be a Musketeer Memorandum study. Where a new genetic diagnosis is made, patients will be directed to the most appropriate NHS clinical specialist service, and may be offered the opportunity to participate in further studies aimed at understanding novel disorders in greater detail. Most studies will be conducted on blood samples, but in some patients cells will be grown from small skin biopsies in addition for laboratory studies. Where simple metabolic testing such as oral glucose tolerance testing has not been undertaken as part of clinical care, this may also be undertaken as part of the study. Some patients may also be asked if they consent to clinical photographs. The study team have extensive experience already of using all the techniques to be employed, and have a track record not only of finding new genetic causes for disease, but also of developing new NHS services and treatments based on these.
REC name
East of England - Cambridge South Research Ethics Committee
REC reference
18/EE/0068
Date of REC Opinion
13 Aug 2018
REC opinion
Further Information Favourable Opinion