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ID
Source
Brief title
Health condition
UCD; Urea cycle defect; ureumcyclusdefect; PKU; Pheylketonuria; fenylketonurie; microbiome; microbioom; gut bacteria; darmbacterien
Sponsors and support
Intervention
Outcome measures
Primary outcome
differences in the abundance of bacterial strains between healthy volunteers and UCD patients and between PKU and UCD patients
Secondary outcome
differences in the abundance of ammonia producing bacterial strains (e.g. Clostridium species) between healthy volunteers and UCD patients and between PKU and UCD patients
Background summary
Urea cycle disorders (UCDs) are a group of rare inherited metabolic diseases causing hyperammonemic encephalopathy. Despite intensive dietary and pharmacological therapy, outcome is poor in subset of UCD patients. Because of very low protein tolerance, UCD patients follow a strict low protein diet. Both the composition of the diet, as well as the amino acid supplementation these patients use could change gut microbial composition, with a potential negative effect on metabolic control.
Hypothesis:
In urea cycle defect patients the protein-restricted diet, in combination with essential amino acid supplementation, results in a different gut microbial composition compared to healthy individuals on a normal diet. Selection of ammonia producing bacteria can negatively influence metabolic regulation in UCD patients.
Objective:
To detect differences between microbiome composition of UCD patients, healthy controls and phenylketonuria (PKU) patients. PKU patients are included to differentiate between the effect of a low protein diet and the UCD itself on microbial composition)
Study objective
In urea cycle defect patients the protein-restricted diet, in combination with essential amino acid supplementation, results in a different gut microbial composition compared to healthy individuals on a normal diet. Selection of ammonia producing bacteria can negatively influence metabolic regulation in UCD patients
Study design
single measurement
Intervention
one day food diary
and
a one time stool (feces) sample
Inclusion criteria
Patients:
- age 18 years and over.
- confirmed diagnosis of a urea cycle defect or phenylketonuria (enzymatic or mutation analysis and amino acid spectrum)
-treatment with a low protein diet (natural protein intake 0.8 gram/kg/day or lower) and the use of amino acid supplements
Healthy subjects:
-age 18 and over.
Exclusion criteria
Patients:
-known non-adherence to the diet
-known incompliance with taking the amino acid supplements
-use of antibiotics three months prior to sample collection
-other severe conditions that may influence gut microbiome composition (e.g. liver cirrhosis, renal failure, inflammatory bowel disease)
Healthy subjects:
-illnesses known to influence microbiome composition (e.g. liver disease, bowel disease, diarrhea)
-medication use known to influence microbiome
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL6106 |
| NTR-old | NTR6447 |
| Other | NL61031 : ABR nummer |