Batten Disease

Batten disease is the term used to describe the neuronal ceroid lipofuscinoses (NCLs), a group of rare, genetic, and neurodegenerative disorders that affect children and adolescents.

Sono patologie ereditarie causate da mutazioni in diversi geni (CLN1, CLN2, CLN3 e altri) e si caratterizzano per l’accumulo di sostanze di scarto nei lisosomi delle cellule, con conseguente degenerazione progressiva del sistema nervoso centrale.

Among the various forms, one of the most common is the variant linked to the CLN3 gene, which represents the “classic” form of Batten disease. This form typically appears between the ages of 4 and 7 and initially manifests as progressive vision loss, which rapidly advances to blindness. Over time, additional symptoms develop, including epileptic seizures, motor and coordination difficulties, cognitive decline, and loss of language, with a significant impact on both quality of life and life expectancy.

La diagnosi si basa principalmente su analisi genetiche, integrate da valutazioni neurologiche e oftalmologiche, oltre che da esami strumentali come risonanza magnetica ed elettroencefalogramma.

Attualmente in Italia ed Europa non esiste una cura risolutiva per la malattia di Batten CLN3. I trattamenti disponibili sono di tipo sintomatico e di supporto, con l’obiettivo di migliorare la qualità di vita del bambino e della famiglia: farmaci antiepilettici, fisioterapia, logopedia, sostegno psicologico ed educativo.

In recent years, however, research has opened new possibilities through the development of innovative therapeutic approaches. In particular, the experimental CLN301 gene therapy represents one of the most promising lines of investigation. This strategy uses an adeno-associated viral (AAV) vector to deliver a functional copy of the CLN3 gene into nerve cells, with the goal of compensating for the genetic defect and slowing disease progression. CLN301 is currently undergoing international clinical trials, and although results are still preliminary, it represents one of the most concrete hopes for the future of individuals affected by this condition. This is the path that HOPE4U INSIEME CONTRO BATTEN APS has chosen to pursue, in order to offer young Rachele the future she deserves.