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

Methods and pharmaceutical compositions for treating rhabdomyolysis

Methods for determining whether a patient suffering from rhabdomyolysis achieves response with a TLR9 antagonist

Use of low doses of hydroxychloroquine for the treatment of LIPIN-1 deficiency

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 for Mapple Syrup urine disease

Methods and compositions for treating pulmonary alveolar proteinosis related to MARS mutations

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