After a long and intense effort lasting more than two years and involving leading experts
and specialists in the field of metabolic diseases, the first revision of the global guidelines for the diagnosis and treatment of remethylation disorders was published in June 2026, among which cblC is the most numerically represented form.
Furthermore, it represents the first case in the world in which a patient association
is not only consulted, but directly involved in drafting the guidelines.
Specifically, our association was directly represented through the
participation of its president, who is among the authors of the guidelines.
During the proceedings, the president participated in various meetings, both remotely and in person,
contributing to the drafting of the guidelines and bringing to the attention of the
scientific community not only the clinical aspects, but also the needs of patients and
caregivers.
This collaboration between the association and the scientific community represents a
significant example of how dialogue between the two worlds involved in the management of rare diseases
can contribute to a better understanding of patient needs.
Journal of Inherited Metabolic Disease, 2026; 49:e70177
https://doi.org/10.1002/jimd.70177
