Analysis of the gut microbiome of patients with rare monogenic metabolic diseases

Analysis of the gut microbiome of patients with rare monogenic metabolic diseases - MicroMeDi

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00033718

Enrollment

500

Registered

2024-02-26

Start date

2024-04-03

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Rare monogenic metabolic diseases

Interventions

Group 1: Saliva swabs, skin surface swabs and stool samples will be done . There are no extra visits required for this study. Sampling of saliva and skin surface swabs will be included into the regula

Eligibility

Sex/Gender

All

Age

3 Years to No maximum

Inclusion criteria

Inclusion criteria: 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)

Exclusion criteria

Exclusion criteria: - 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

Design outcomes

Primary

Measure	Time frame
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

Measure	Time frame
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. 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. 3) Identify targets for future treatment options.	—

Measure

Time frame

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. 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. 3) Identify targets for future treatment options.

—

Countries

Germany

Contacts

Public ContactSabine Jung-Klawitter

Zentrum für Kinder- und Jugendmedizin

Sabine.Jung-Klawitter@med.uni-heidelberg.de+496221 564002

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026