Mapping cholinesterase enzyme deficiencies within a family
Research type
Research Study
Full title
Mapping cholinesterase enzyme deficiencies within a family where an individual is known to possess the homozygote silent gene.
IRAS ID
178651
Contact name
Daniel Jacobs
Contact email
Sponsor organisation
Homerton University Hospital NHS Trust
Duration of Study in the UK
0 years, 6 months, 1 days
Research summary
[TO BE AMENDED AS PART OF PO CONDITIONS]
Some individuals possess an abnormality of the cholinesterase enzyme required to metabolise muscle relaxant drugs administered during general anaesthesia. This abnormality can lead to prolonged paralysis and unplanned intensive care admissions. It can also lead to awareness during general anaesthesia.
There is paucity in the data available for the distribution of some of the variants of the cholinesterase enzyme, especially in ethnic populations. This is particularly the case for the silent version of the enzyme which can lead to paralysis of up to 12 hours.
At our hospital, the Homerton University Hospital NHS Foundation Trust, we identified one patient with this abnormality after she suffered with prolonged paralysis. Immediate family members of the case patient (brother and sisters) were tested for the enzyme deficiency as part of case patient’s routine clinical care. The testing revealed an abnormal enzyme in three of the four siblings and medical warning cards were issued to them.
Given the high incidence of intermarriage in this population, we suspect a higher number of relatives to have the abnormal gene. We now wish to recruit and test all first degree relatives of those patients who initially tested positive for the enzyme deficiency. Related partners of those patients will also be recruited due to increased degree of intermarriage.
This study will be conducted at the Homerton University Hospital NHS Foundation Trust in Hackney, London.
The study will include:
-providing patients with information sheets and discussing the implications of the deficiency
-obtaining informed consent to take blood samples as well as store contact information
-taking blood samples from recruited patients for analysis at the Homerton University Hospital NHS Foundation Trust biochemistry laboratory.
-sending enzyme deficient blood samples to a specialist laboratory - The Doctor's Laboratory, Lewisham for further analysis
-following up and contacting patients with enzyme deficiencies and GPs and providing medical warning cards.REC name
London - Bromley Research Ethics Committee
REC reference
15/LO/1131
Date of REC Opinion
15 Sep 2015
REC opinion
Further Information Favourable Opinion