Projects

The Association supports scientific research and every initiative aimed at improving the knowledge, diagnosis and treatment of methylmalonic acidemia with homocystinuria cblC.

The Association aims also to safeguard the rights of patients, to promote their social integration and improve the quality of life of both patients and their families.

The main projects supported by the Association are listed below:

Mitochondrial homeostasis in cblC

Multiomic analysis of altered mitochondrial, autophagic, and lysosomal homeostasis in cblC methylmalonic acidemia

ERT therapy

To demonstrate in vitro that this disease can be treated with protein replacement therapy (ERT) achieving restoration of normal metabolic pathways after treatment with a recombinant MMACHC protein.