Hereditary Metabolic Diseases

NCT05164055 – Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)

Lipin1 Ko zebrafish

Myoblasts from patients with Lipin 1 deficiency

Tanko2 Ko zebrafish

NCT05564520 – International Multicenter Study on Lipin-1 Deficiency

Lipin1 Ko zebrafish

Myoblasts from patients with Lipin 1 deficiency

Tanko2 Ko zebrafish

NCT05564520 – International Multicenter Study on Lipin-1 Deficiency

DNA from patients

Fibroblasts from patients

50 patient cohort

NCT04761588 – Evaluation of TYR Sphere in France

Gene therapy

Mice – Bckdh a -/- mouse model

Mice – Bckdh b -/- mouse model

Gene therapy

Gene therapy for Mapple Syrup urine disease

DNA from patients

Fibroblasts from patients

50 patient cohort

NCT05164055 – Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)

NCT05222906 – Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3

NCT05815004 – Guard3: An Open-label Parallel-arm Randomized Controlled Phase 2/Phase 3 Study Evaluating the Efficacy and Safety of Autologous HSC Gene Therapy AVR-RD-02 Compared to ERT for Gaucher Disease Type 3 in Participants Aged 2 to 25

NCT05769621 – A Retrospective Study to Characterize Participants With Propionic Acidemia

Patient cohort

NCT04674761 – Efficacy and Safety of Odevixibat in Patients With Alagille Syndrome

NCT05035030 – Long-term Safety and Efficacy of Odevixibat in Patients With Alagille Syndrome

Cerebellum specific Srd5a3 KO mice