Hope propels us into the future
WELCOME TO fundación LIBELLAS
Fundación Libellas is an international, nonprofit patient advocacy organization dedicated to improving the lives of children affected by NALCN ion channel-related diseases, through research, family support programs and education.
To provide support and funding for research focused on NALCN-related diseases.
To promote advocacy for families and patients with diseases related to the NALCN ion channel mutations.
To be a link between patients, doctors and researchers.
We aim to create an international network of patients, physicians and researchers who work together to transform the lives of those living with severe neurodevelopmental disorders induced by NALCN mutations.
Changes (variants) in the NALCN gene are involved in ULTRA-RARE and severe genetic diseases. In children, both recessive and dominant mutations of NALCN and UNC80, its ancillary subunit, were recently described as causing severe neurodevelopmental disorder with onset soon after birth referred to as IHPRF 1&2 and CLIFAHDD.
In both syndromes, patients exhibit a large panel of symptoms including hypotonía, facial dysmorphism, global developmental delay, constipation, respiratory disorders, sleep disturbance, epileptic seizures, and in some cases early death.