Mitochondrial Disorders

DNA from patients with Friedreich ataxia

Fibroblasts from patients with Freidreich ataxia

> 200 patients (pediatric and adult)

Treatment and prediction of therapeutic responses in patients suffering from Friedreich ataxia

Novel serotonin analogues and their uses for treating iron-associated disorders

NCT04921930 – Evaluation of the Effect of Artesunate in Friedreich Ataxia (FA)

NCT05874388 – Characterisation of the Cognitive Profile of Patients Suffering From Friedreich’s Ataxia

LRPPRC cKo mice

Fibroblasts from patients

Cohort of patients with different mitochondrial diseases

cKO mouse model

Fibroblasts from patients

Synthesis of mitochondrially encoded proteins

> 70 patients with different mitochondrial diseases (pediatric and adult)

Fibroblasts from patients

> 60 patients with different mitochondrial diseases (pediatric and adult)

Fibroblasts from patients

Measurement of mitochondrial respiration (Oroboros technology) Analysis of respiratory chain assembly (BN-PAGE)

> 400 patients with different mitochondrial diseases (pediatric and adult)

Fibroblasts from patients with NBIA

Fibroblasts from patients with NBIA

> 10 patient cohort