The influence of monogenetic inborn errors of metabolism on mitohondrial energy metabolism in T-cells

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00013705

Enrollment

Registered

2018-01-03

Start date

2018-03-01

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

E88.9

Interventions

Group 1: Healthy controls will be asked to allow the withdrawl of 1 extra blood sample in case they need blood withdrawl anyway. Group 2: Patients with different inborn errors of energy metabolism wil

Eligibility

Sex/Gender

All

Age

3 Years to 65 Years

Inclusion criteria

Inclusion criteria: Enzymatically / genetically confirmed metabolic disease of the intermediary metabolism (patients /arm2)

Exclusion criteria

Exclusion criteria: Additional comorbitities with known influence on intermediary/energy metabolism

Design outcomes

Primary

Measure	Time frame
Differences in mitochondrial and energy metabolism between controls and patients via comparative studies of T lymphocytes in a specific cell culture system.	—

Secondary

Measure	Time frame
e.g. mitochondrial morphology, mitochondrial function, influence of specific substrates on mitochondrial energy metabolism	—

Countries

Germany

Contacts

Public ContactAnke Schumann

Uniklinik Freiburg, Zentrum für Kinder- und Jugendmedizin

anke.schumann@uniklinik-freiburg.de

Outcome results

None listed

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