Autoimmune hepatitis is a chronic inflammatory liver disease in which the body’s immune system attacks liver cells. This causes persistent liver inflammation and, if not properly treated, may progress to liver dysfunction. In children and adolescents, it is a rare but potentially serious condition.

Jana is a 7-year-old girl who was diagnosed with autoimmune hepatitis two years ago. Following the diagnosis, her family began organising solidarity activities to help fund research. “My goal is to help find a cure for this disease so that Jana can have a life like other children”, says Silvia, Jana’s mother and the driving force behind the initiative.

So far, they have organised numerous activities, most of them in Terrassa, including a charity run at Jana’s school, a solidarity zumba session, a traditional culture day, and several music-related initiatives in collaboration with the Cobla La Nova Vallès of Sabadell. In addition, Silvia wrote an illustrated children’s book based on her personal story with Jana, which has become a major sales success.

Thanks to all these initiatives, they recently donated €15,830.70 to the Vall d’Hebron Research Institute (VHIR). “I have many ideas and many activities planned for the coming months to continue supporting research and, at the same time, help raise awareness of diseases that are still little known. I think that if I don’t do it, no one will”, Silvia adds.

Research in personalised medicine for patients with autoimmune hepatitis

The funds will support research at VHIR aimed at understanding the progression of autoimmune hepatitis in children and improving treatment personalisation.

Standard treatment for patients with this condition is based on immunosuppressive medication, mainly corticosteroids and other drugs that reduce the activity of the immune system. In clinical practice, however, differences are observed in how patients respond to treatment. In some cases, immunosuppression can be withdrawn while maintaining remission without relapse. In others, relapse occurs after treatment withdrawal, and some patients may experience disease reactivation despite correctly following treatment. One of the main clinical challenges is identifying which patients can safely discontinue treatment and which are at risk of relapse, as reliable biomarkers are currently lacking.

“Medical research is essential to continue improving the diagnosis and treatment of diseases that, like paediatric autoimmune hepatitis, still raise many unanswered questions. Despite the advances of recent years, we still need to better understand why some patients evolve favourably while others experience relapses or complications”, explains Dr. Jesús Quintero, head of the Paediatric Hepatology and Liver Transplant Unit at Vall d’Hebron University Hospital and researcher in the CIRCATH group (General, Digestive and Thoracic Surgery and Liver Transplantation) at VHIR.

In the first phase of the project, researchers are characterising the different clinical phenotypes of paediatric patients with autoimmune hepatitis in order to predict disease progression. The next phase aims to identify factors that may help predict the risk of relapse. To do so, both routine clinical parameters (blood tests, imaging tests and elastography) and new molecular biomarkers, particularly microRNAs (miRNAs), will be analysed. Studying the expression of these miRNAs in blood and liver tissue (in collaboration with other hospital departments and research centres) could help identify non-invasive biomarkers that anticipate disease activity and support safer therapeutic decision-making.

“Solidarity initiatives and donations like this play a fundamental role because they help drive research projects that can translate into real improvements in patients’ quality of life. Society’s support is key to continuing progress towards more precise and personalised medicine, especially in rare paediatric diseases”, says Dr. Maria M. Mercadal, consultant physician at the Paediatric Hepatology and Liver Transplant Unit at Vall d’Hebron University Hospital and researcher in the CIRCATH group at VHIR.