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Impact of Mutations in Aminoacyl tRNA Synthetases on Protein Translation and Cellular Stress

NCT05514470 · Status: WITHDRAWN · Phase: NA · Type: INTERVENTIONAL

Last updated 2025-09-25

No results posted yet for this study

Summary

Mutations in the genes encoding cytosolic aminoacyl-tRNA synthetases are responsible for early-onset multisystemic diseases including to varying degrees interstitial lung disease, liver damage, neurological and digestive disorders, and systemic inflammation. These are rare and severe diseases whose pathophysiology is poorly understood.

The investigative team hypothesizes that mutations within these genes are responsible for a decrease in protein translation and lead to a cellular stress response similar to that induced by amino acid deprivation. The investigative team also hypothesizes that these alterations could be corrected by high-dose supplementation in the culture medium of the corresponding amino acid.

The main objective of the study is to precisely determine the consequences of cytosolic aminoacyl-tRNA synthetase mutations at the cell level on protein translation.

Conditions

  • Interstitial Lung and Liver Disease
  • Infantile Liver Failure Syndrome 1
  • Neurologic, Endocrine and Pancreatic Disease, Multisystem, Infantile-Onset 2
  • Rajab Interstitial Lung Disease With Brain Calcifications 2

Interventions

OTHER

Skin biopsy

A skin biopsy performed on the forearm or thigh depending on the patient's age and wishes, with a biopsy punch with a diameter of 3 to 4 mm depending on the child's age (3 for children under 3 years, 4 beyond). Culture of fibroblasts and immortalization.

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Alice HADCHOUEL, MD, PhD · Assistance Publique - Hôpitaux de Paris

  • Isabelle SERMET-GAUDELUS, MD, PhD · Assistance Publique - Hôpitaux de Paris

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-11-30
Primary Completion
2027-11-30
Completion
2027-11-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05514470 on ClinicalTrials.gov