COL4A1/A2 disorders are rare, congenital, multisystem disorders caused by mutations in the COL4Α1 or COL4Α2 genes, which encode α chains of collagen IV. There are no curative treatments at present, and intervention is focused on managing the symptoms. Associazione Famiglie COL4A1/A2 was established in 2021 to provide support for patients and their families, and to promote research into the basic mechanisms of the disorders. As part of FEBS Letters 's series on patient advocacy for rare disorders, we interviewed Francesca Manodoro, Vice‐President and Treasurer of Associazione Famiglie COL4A1‐A2, Tom Van Agtmael, Professor of Matrix Biology and Disease at the University of Glasgow, and Simona Balestrini, Associate Professor of Child Neurology at the University of Florence, on the history of the organisation, ongoing research into these conditions, and the challenges in securing funding for research and translating basic research findings into the clinic.
Balestrini et al. (Mon,) studied this question.