The Spain GNB1 Association has donated €17,458 to the Gene Therapy for the Nervous System research group at the Vall d’Hebron Research Institute (VHIR), led by Dr. Miguel Chillón, to support a gene therapy research project for GNB1 encephalopathy.

The Spain GNB1 Association was founded in early 2025 with the aim of raising awareness of this ultra-rare disease, promoting medical research and supporting affected families. It currently brings together many of the families of patients diagnosed with GNB1 encephalopathy in Spain and actively collaborates with international initiatives such as the US-based GNB1 Advocacy Group to promote shared projects, including the first international GNB1 patient registry.

Throughout 2025, the association has organised numerous fundraising and awareness initiatives that made this donation possible. These included an event held at Binissaida, Menorca, featuring live music performances, local crafts, raffles and a musical bingo. The event also helped bring research closer to society through the screening of several informative videos, including a piece produced by the Vall d’Hebron team about the gene therapy project.

In Barcelona, the association also organised ImproSolidaria, a charity theatre event in the Gràcia neighbourhood aimed at continuing to raise awareness of GNB1 encephalopathy and funds for research.

“Every activity we organise helps us raise funds and increase awareness of GNB1 encephalopathy. We would like to thank all the people, organisations and collaborators who have taken part in the different initiatives promoted this year and contributed to making this donation possible”, says Enrique Cuadra, vice-president of the Spain GNB1 Association. “We hope that research will open up new therapeutic opportunities for our sons and daughters and for future generations of patients”, he adds.

A gene therapy project to advance towards new treatments

The research led by Dr. Miguel Chillón’s group focuses on developing a safe and effective gene therapy strategy based on silencing the altered gene and replacing it with a functional therapeutic copy. The system developed incorporates different modules that reduce the expression of the mutated protein while restoring physiological levels of the GNB1 protein through controlled and stable expression. In addition, further regulatory and safety mechanisms have been incorporated to limit treatment expression in non-target tissues.

In recent months, the research team has validated synthetic promoters capable of maintaining moderate and specific expression of the therapeutic gene, with positive results in both human and murine cell models and in mouse brain*, without affecting cell viability. At the same time, progress has also been made in characterising the GNB1 I80T animal model, identifying electroencephalographic and behavioural alterations that will enable treatment efficacy to be assessed in future preclinical phases.

“Support from patient associations is essential to continue advancing translational research projects such as this one. The results obtained so far indicate that the therapeutic strategy developed is functional, regulatable and incorporates multiple safety mechanisms, bringing us closer to future preclinical evaluation phases”, says Dr. Miguel Chillón, head of the Gene Therapy for the Nervous System research group at VHIR.

*Institutional Statement on the Use of Research Animals