Toni is a boy who lived a normal life until he turned three. In 2013, Antonio, Toni's father, had to face the diagnosis of his son: familial hypomagnesemia. It is a genetic disease characterized by the chronic decrease in magnesium levels in the blood, causing an imbalance in the processes that depend on this mineral, such as muscular, nervous, and cardiac function. At that time, and still today, this is a rare and poorly researched disease.

Toni's and his family's lives changed radically. "At first, you think: 'Why did this happen to me?' That's the first reaction, to deny it, and you get angry with the world. But in the end, you have to give it meaning, so you realize that you have to do things, for my son and for those who will come later," explained Antonio Cabrera, Toni's father and president of Hipofam.

This is how Hipofam, the Association for the Information and Research of Familial Hypomagnesemia, was born, which is chaired by Antonio Cabrera. Hipofam, the acronym for his son's disease, was created with the aim of raising funds and helping, in any way possible, with the research on this disease. The collaboration with the Vall d'Hebron Research Institute (VHIR) began in 2015 with annual donations for the research of familial hypomagnesemia. In 2024, Hipofam made a new donation of €19,000, which adds to previous donations, to continue financing the research on this disease. In total, the association has contributed more than €250,000 for the study and treatment of familial hypomagnesemia through the VHIR. The research on the disease is led by Dr. Julieta Torchia, a predoctoral researcher in the Renal Pathophysiology research group, under the direction of Dr. Anna Meseguer, at the VHIR. "We have great hopes in them, they have identified a factor that could be key and even have a drug that could act on it, although they still haven't been able to test it due to the low number of patients available for trials. As I said, it is a poorly researched disease because it is also rare" explained Antonio.

What started as an association formed by Toni's parents is now made up of 61 families. At first, they didn’t quite know what to do, but one thing was clear to Antonio: "We couldn't just sit idly by." They founded the association and, little by little, through contact with other families in the same situation and organizing small events or awareness days, Hipofam has achieved the position it holds today.

A donation for research and the future

Hipofam renews its commitment to the research of the Renal Pathophysiology group at VHIR, with a new donation of €19,000. Familial hypomagnesemia is a poorly researched disease that depends on research to improve the quality of life of its patients. It causes patients to lose the magnesium produced by their body through urine, which forces them to take large amounts of magnesium for life. It also causes vision problems, with patients sometimes exceeding 20 diopters. One of the challenges patients with hypomagnesemia face is the lack of subsidy for the cost of the magnesium they must take, as well as for the glasses they need due to the severe vision problems caused by the disease. Hipofam helps them cope with these uncovered needs.

The research team, led by Dr. Anna Meseguer, is conducting a study aimed at identifying the mechanisms of progression of Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (HFHNC) and understanding why patients show different phenotypes, which include rapid versus slow renal function loss, with or without eye involvement, despite having the same mutation (pG20D) in the Claudin 19 gene. In some cases, it can lead to end-stage renal failure requiring a kidney transplant within a few months of life in the most severe cases, and there is no specific treatment.

This research project would not have been possible without the support and participation of Hipofam over the years.