FUNDACION 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.

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Children affected by mutations in the NALCN and UNC80 genetic variants have devasting symptoms and early death in severe mutations.  

NALCN/UNC80-related disorders, CLIFAHDD and IHPRF1 & 2 syndromes cause a large panel of symptoms that include severe encephalopathy associated with speech impairment, intellectual disability, dysautonomia, and hypotonia, breathing abnormalities (Apneas and hypopneas), combined with non-neurological symptoms such as facial dysmorphism, cardiac arrhythmia, endocrine dysfunction, and gastrointestinal symptoms

At the moment, patients do not have effective treatment options. 

With research, we have the opportunity to contribute to cutting-edge treatments. 

Your donation will offer more than just HOPE to families. It will pave a path towards the cure. 

VIDEO NALCN UNC80 GENETIC DISEASES

Fundación Libellas es una organización sin ánimo de lucro, dedicada al fomento y desarrollo de proyectos de investigación que redunden en beneficio de los niños afectados por mutaciones en el canal iónico NALCN. Además ofrece atención y ayuda a los pacientes y sus familiares. 

NALCN es un componente crítico de la excitabilidad neuronal y está involucrado en enfermedades genéticas extremadamente raras y graves. 

Los síndromes asociados a su disfunción son trastornos del neurodesarrollo que dan comienzo en la infancia: 

1. Síndrome de CLIFAHDD

2. Síndrome de IHPRF tipo 1

3. Síndrome de IHPRF tipo 2

Por el momento los pacientes no tienen opciones de tratamiento efectivos. Fomentar la investigación es nuestra esperanza para una cura. 

Fundación Libellas is a non-profit organization dedicated to the promotion and development of research projects that benefit children affected by mutations in the NALCN ion channel. It also offers care and help to patients and their families.

NALCN is a critical component of neuronal excitability and is involved in extremely rare and serious genetic diseases.

The syndromes associated with its dysfunction are neurodevelopmental disorders that begin in childhood:

1. CLIFAHDD syndrome

2. IHPRF syndrome type 1

3. IHPRF syndrome type 2

At the moment, patients do not have effective treatment options. Fostering research is our hope for a cure.

 

 

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