Study on the characterization and mechanistic elucidation of rare diseases of mRNA translation

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00037083

Enrollment

Registered

2025-06-02

Start date

2025-08-01

Completion date

Unknown

Last updated

2026-03-30

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

Conditions

Autoimmunity, ribosomopathies, leukocyte function

Interventions

Group 1: This is a monocentric, explorative and observational Study aimed at the investigation of pathology mechanism and causality in human genetic diseases affecting the mRNA translation machinery a

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patients with rare genetic disorders affecting the ribosome and the translational machinery

Exclusion criteria

Exclusion criteria: None

Design outcomes

Primary

Measure	Time frame
mechanistic explanation of the disease	—

Secondary

Measure	Time frame
longitudinal description of the disease	—

Countries

Germany

Contacts

Public ContactJonathan Bohlen

Genzentrum der LMU

bohlen@genzentrum.lmu.de+49 89 2180 71055

Outcome results

None listed

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