Hippophamus (Association for the Information and Research of Familial Hypomagnesemia) has renewed its commitment to the research of the Renal Pathophysiology group of the Vall d’Hebron Research Institute (VHIR) with a new donation of 19,000 euros. The goal is to continue funding research on Familial Hypomagnesemia.
Hipofam’s collaboration with the VHIR began in 2015 with annual donations for Familial Hypomagnesemia research. In these 10 years, the organization from Martorell has managed to contribute more than 250,000 euros for the study and treatment of this disease in the Vall d’Hebron. Currently, the research is in charge of Dra. Julieta Torchia, predoctoral researcher in the Renal Physiopathology research group, led by Dr. Anna Messenger
The president of Hipofam, Antonio Cabrera, explains that “the group of researchers is running a study whose goal is to identify the mechanisms of progression of the disease Familial Hypomagnesemia” with Hypercalciuria and Nephrocalcinosis (HFHNC) and “to understand why patients show different phenotypes that include rapid versus slow loss of renal function” with or without ocular involvement, despite having the same mutation (pG20D) in the Claudin 19 gene.
In some cases it can lead to terminal renal failure requiring a kidney transplant after a few months of life, in the most serious cases, and for which there is no specific treatment. Currently, “they have already identified a factor that could be key and even have a drug that could act on it, although they have not yet been able to test it due to the low number of patients to do the trials, since it is a minority disease”.
Antonio Cabrera, president Hipofam
On the other hand, “they have produced laboratory mice with the induced genetic mutation in order to test the hypotheses and the drugs, and try to ensure that in all cases the disease progresses slowly”. Another line of research is also being carried out “to take cells from patients’ skin to make stem cells and create an organoid, a kidney made with Artificial Intelligence, and test drugs in a kidney that simulates the human and not in mice”, adds the president of Hipofam.
Antonio Cabrera, president Hipofam
Hipofam also presented the ‘Magnificent Project’ to the Fundación Inocente, which in 2024 dedicated its television marathon to minority diseases such as hypomagnesemia. Thus, “we got 25,000 euros, 4,000 to help the families and 21,000 euros for the research line to create a kidney with stem cells”, says Cabrera. The same project has also been presented to the Fundación Española de Enfermedades Raras (FEDER) in order to obtain more funding.
Antonio Cabrera, president Hipofam
Hipofam “was launched in 2013 in Martorell, after my son’s diagnosis, and now consists of 61 families from all over affected by this little-researched disease, which depends on research to improve the quality of life of its patients”. It causes patients to lose the magnesium their bodies make through their urine, requiring them to take large amounts of magnesium for life. It also causes vision difficulties, with patients who can exceed 20 diopters.
Antonio Cabrera, president Hipofam
“One of the problems faced by patients with Hypomagnesemia is the lack of subsidy for the cost of the magnesium that the patients must take, as well as the glasses that they must wear due to the great vision difficulties that the disease can cause,” he says Cabrera Hipofam helps them deal with these unmet needs.
Source: martorelldigital.cat
