PAMDC version 1
Research type
Research Study
Full title
Propionic acidemia microbiota data collection
IRAS ID
199265
Contact name
Maryam Rakhshandehroo
Contact email
Sponsor organisation
Nutricia Research B.V.
Duration of Study in the UK
0 years, 7 months, 30 days
Research summary
Propionic acidemia (PA) is a rare inborn error of metabolism and one of the largest conditions within Organic Acidurias. This disorder results in the accumulation of propionyl-CoA and other metabolites, followed by clinical features including poor feeding, vomiting and loss of appetite, weak muscle tone, and lack of energy. These symptoms sometimes progress to more serious medical problems, including heart abnormalities, pancreatitis, seizures, coma, and possibly death.\nThis research aims to investigate the gut microbiota (with a role in propionate production) composition in PA patients, which is expected to vastly differ from healthy individuals considering the long term nutritional management the PA patients often already receive as off the first week(s) of life. The results of this project aim to give a more practical approach for identifying dietary components that can optimize current nutritional management and aims to find alternatives to reduce both propionate production and constipation.\nThis research will be performed in 4 European countries including UK. At a routine hospital visit an informed consent form will be provided. Thirty patients of 4-18 years old (and their healthy siblings or parents) will be asked to collect a stool sample every four weeks over a period of three months (4 stool samples in total). The stool samples will be analyzed for microbiota community profile. Nutritional and medical questionnaires will be also completed (if data is available). After the characterization of the gut microbiota and its functioning in PA patients, in vitro fermentation systems will be used to test the impact of several fibers on a selection of stool samples. Different fiber combinations will be investigated on their capacity to modulate the propionate production of the stool samples. \n\n
REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
16/NW/0772
Date of REC Opinion
2 Nov 2016
REC opinion
Favourable Opinion