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27/04/2026 - Press release

Hospital del Mar Research Institute and the Spanish Ataxia Telangiectasia Families Association collaborate on research.

HMRIB and AEFAT have signed a collaboration agreement to promote the research carried out by the Systems Neurology and Neurotherapies Research Group, led by Dr Pablo Villoslada.

The Spanish Ataxia Telangiectasia Families Association (AEFAT) has signed a two-year collaboration agreement with the Hospital del Mar Research Institute (HMRIB) to promote a study aimed at advancing research into potential treatments for this disease. It is a condition that affects children and adolescents, caused by the mutation of a gene that generates a toxic protein linked to DNA repair.

From left to right: Pablo Villoslada, Maria Demestre, Mellissa Calero and Aida Giraldo.

People affected by ataxia-telangiectasia suffer from various neurological and dermatological conditions, cancer-related complications and immunodeficiency. At present, there is no treatment available to address the disease.

The signed agreement establishes an investment of 40,000 euros to launch the study to develop a personalised therapy using antisense oligonucleotides (ASO). Firstly, two patients have been selected from a cohort of forty people with ataxia-telangiectasia whose profile may benefit from the ASO treatment currently under investigation at HMRIB. This treatment aims to restore the activity of the ATM protein (Ataxia-Telangiectasia Mutated), which is altered in this disease, and thus help reduce the associated symptoms.

Dr Pablo Villoslada, coordinator of the Systems Neurology and Neurotherapies Research Group, notes that "the collaboration with AEFAT helps us launch a project that may make it possible to design a personalised treatment for these patients, who have no alternative". In this regard, Francisco Villén, president of AEFAT, explains that "launching a project of this kind is a very important step for AEFAT, as for the first time a study will be carried out on specific patients to address the root cause: the lack or inactivity of the ATM protein. It also highlights the work of AEFAT, which has been searching for a cure for ataxia-telangiectasia since 2009 and, above all, for families, it means keeping alive the hope of finding solutions for the disease".

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