The ADNP Syndrome and CP201 (NAP) Potential and Hope

Overview

Journal Front Neurol

Specialty Neurology

Date 2020 Dec 17

PMID 33329371

Citations 15

Authors

Illana Gozes

Affiliations

Soon will be listed here.

Abstract

Activity-dependent neuroprotective protein () syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a rare condition, which is diagnosed in children exhibiting signs of autism. Specifically, the disease is suspected when a child is suffering from developmental delay and/or intellectual disability. The syndrome occurs when one of the two copies of the gene carries a pathogenic sequence variant, mostly a mutation resulting in loss of normal functions. Original data showed that mice suffer from learning and memory deficiencies, muscle weakness, and communication problems. Further studies showed that the ADNP microtubule-interacting fragment NAP (called here CP201) resolves, in part, deficiencies and protects against pathogenic sequence variant abnormalities. With a clean toxicology and positive human adult experience, CP201 is planned for future clinical trials in the syndrome.

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