WELCOME TO fundación LIBELLAS
ABOUT US
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.
OUR GOALS
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.
NALCN SYNDROMES
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.
NALCN Syndromes are severe neurodevelopmental disorders that begins in infancy
- IHPRF. Recessive pathogenic variants of gene NALCN and gene Unc80, its ancillary subunit, are linked to a syndrome referred to as infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) type 1 (OMIM #615419); and type 2 (OMIM #616801), respectively.
- CLIFAHDD Dominant pathogenic variants of NALCN are responsible for a syndrome referred to as congenital contractures of limbs and face, hypotonia and developmental delay (CLIFAHDD; OMIM #616266).
Possible implications of NALCN in other diseases
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NALCN Cervical dystonia, Schizophrenia, Bipolar disorders, Epilepsy, Attention-deficit/Hyperactive disorder; Autism; 13q Syndrome, Alzheimer disease, Alcoholism, Restless leg syndrome, Primary biliary cirrhosis, cancer…
HOPE
Children with NALCN ion channel-related diseases have no effective treatments options.
Foster Research on NALCN-related diseases is our hope for a cure. Join and help us accelerate our objectives.
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