Patient data study is a collaboration by scientists and doctors to grow understanding of developmental impairments caused by a NALCN condition and their clinical symptoms.
WHAT IS THIS STUDY FOR?
This study aims to understand the clinical features of patients with NALCN/UNC80 dysfunctions.
This step is crucial to identify research needs for the development of future therapies.
WHY IS SO IMPORTANT YOUR PARTICIPATION
As you are aware NALCN/UNC80-related disorders, CLIFAHDD and IHPRF1 & 2 syndromes, cause a large panel of symptoms in a wide range of severity that include severe encephalopathy associated with speech impairment, intellectual disability, dysautonomia and hypotonia, combined with non-neurological symptoms such as facial dysmorphism, cardiac arrhythmia, endocrine dysfunction, and gastrointestinal symptoms.
These are ultra-rare severe neurodevelopmental disorders. Because of the scarcity of people affected by this disease, research about its symptoms, mechanisms and potential therapies requires contacting multiple families all over the
Clinical features of NALCN dysfunction continue to be identified, clarified an understood through early research of this newly ultra-rare discovered genetics mutations.
WHO CAN PARTICIPATE
Patients with a NALCN/UNC80 disorder, CLIFAHDD and IHPRF1&2.
Please write to email@example.com for futher information or contact through the web contact form.
Deep Phenotyping of NALCN/UNC80-related disorders.
Doctor Antonio Gil-Nagel, MD, PhD
Department of Neurology; Hospital Ruber Internacional
La Masó 38, 28034 Madrid, Spain
Phone: (+34) 91387525