Clinical trials: LRS
Interstitial Lung and Liver Disease, Infantile Liver Failure Syndrome 1
Impact of Mutations in Aminoacyl tRNA Synthetases on Protein Translation and Cellular Stress
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…
- 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
- Trial name
- FIBROMARS (NCT05514470)
- Testing
- Skin biopsy
- Where
- France
- Sponsor
- Assistance Publique - Hôpitaux de Paris