Analysis of the gut microbiome of patients with rare monogenic metabolic diseases
- Conditions
- Rare monogenic metabolic diseases
- Registration Number
- DRKS00033718
- Lead Sponsor
- niversitätsklinikum Heidelberg
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 500
Children and adults
- with confirmed diagnosis of a rare monogenic metabolic disease
- who are heterozygous carriers of variants in a gene leading to a rare metabolic disease
- who do not carry variants in a gene responsible for a rare monogenic metabolic disease. These serve as healthy controls (age and region matched to the patients)
- Active or recent illegal substance or alcohol abuse or dependence within the past year.
- History of other significant medical disorders apart from rare monogenic metabolic disease (e.g. leukaemia, diabetes mellitus, renal failure…)
- Use of antibiotics or probiotics within six months prior to sampling
- Individuals having had digestive surgery, are on restrictive diets, or are pregnant
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Investigate the taxonomic differences in the microbiome of a group of patients with a given monogenic metabolic disease, heterozygous carriers and region and age matched healthy controls.
- Secondary Outcome Measures
Name Time Method 1)Investigate qualitative differences of microbial genomes and genes in the salvia, skin and gut microbiome of patients with a given monogenic metabolic disease, heterozygous variant carriers and healthy controls.<br>2)Investigate differences in relative abundances of microbial genomes and genes in the salvia, skin and gut microbiome of patients with a given monogenic metabolic disease, variant carriers and healthy controls.<br>3)Identify targets for future treatment options.<br>