Patients with genetic defects in tRNA biology
Conditions
Interventions
Group 1: Clinical autoinflammatory diseases caused by mutations in the tRNA machinery: Blood samples are collected from affected patients and healthy donors at the beginning of the study and at irregu
Sponsors
Genzentrum der LMU
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Presence of a genetic disease affecting the mRNA translation machinery (table 1) or related process • Informed consent from adult participants or their responsible adults in case of participants under the age of adulthood (“informed consent”) including the age-appropriate consent of the under- aged probands (“assent”)
Exclusion criteria
Exclusion criteria: Lack of informed consent from the probands or their parents in the case of underaged-probands • Reaching of adulthood and lack of informed consent at this stage
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Aim of the Study: Mechanistic understanding of clinical autoinflammation of patients with genetic defects in tRNA maturation | — |
Countries
Germany
Contacts
Public ContactJonathan Bohlen
Genzentrum der LMU
Outcome results
None listed