Activity-dependent neuroprotective protein syndrome which is also known as ADNP syndrome is a genetic condition. This disorder is rarely found in people. This disorder causes a wide variety of signs and symptoms. The hallmark features are autism spectrum disorder and intellectual disability which causes a delay in the developmental phase of children.
Affected ones also have distinct facial features and defects of multiple body systems. However, millions of children all around the world are affected by it. There is no known treatment for this disease.
One of the recent researches conducted by Tel Aviv University has found a drug candidate CP201- NAP. This drug may aid to improve the vocal communication abilities which are not accurately developed due to this disease.
According to the research, the disorders of vocal disability and disturbed neural connectivity in ADNP syndrome mice developed. This development was due to the intake of daily injections and intranasal administration of CP201.
This recent research was carried out by Prof. Illana Gozes, the Lily and Avraham Gildor Chair for the Investigation of Growth Factors and head of the Elton Laboratory for Molecular Neuroendocrinology at TAU’s Sackler Faculty of Medicine. Also in partnership with Prof. Anne McKinney of McGill University and her group and Dr. Vlasta Korenková of the BIOCEV Institute of Biotechnology.
TAU doctoral students Gal Hacohen-Kleiman, Gidon Karmon, Shlomo Sragovich, Iris Grigg and Dr. Metsada Pasmanik-Chor conducted the investigation for the study. That was published in the November print issue of the Journal of Clinical Investigation.
Giving ADNP syndrome children a voice
The key cause of ADNP syndrome are the alterations in the ADNP protein. This protein is a critical component for brain development.
“Children with ADNP disorder suffer from an intellectual disability, speech impediments, and delayed language gaining,” says Prof Gozes’. There are many children who totally lose the ability to communicate and talk.
“We developed a mouse model with ADNP deficiency which gave a nearer look at the ADNP-deficient brain. We found that deficiencies in vocal communication are actually linked to synaptic pathology. And that we could control this by injecting the mouse with daily NAP treatments or administering intranasal dosages to the mouse models. Particular gene regulation significantly improved on mostly parameters which we tested. This is a great news for the future research of ADNP and autism.”
Almost 20 years ago Professor Gozes’ identified the ADNP gene that caused the development of CP201. This gene is an important constituent which protects the nerve cells of ADNP. It also plays its role in improving the memory and intellect by increasing the plasticity of the nerve cell.
“We have found positive effects of CP201in Alzheimer’s and other neurodegenerative syndromes,” says Prof. Gozes. “We have now seen that vocal communication impairments in ADNP-deficient mice were effectively controlled.
The CP201 systemic injections or intranasal daily administration in nonsuckling mice produced global alterations in brain plasticity, greatly improving developmental milestones.”
This research used 150 mice and mental behavioral test and gene expression examination to study the developmental hinderances in the 72 ADNP-deficient mice. The other 28 ADNP-deficient mice were exposed to ultrasonic vocalization examination. The outcomes were then compared with the rest of 50 normal mice.
A promising candidate for clinical trials
The U.S. FDA has accepted the CP201 Orphan Drug status for treating disorders like ADNP syndrome. According to Professor Gozes, this research has tiled a path for the other scientists to conduct a medical trial.
“NAP (CP201) has revealed brain target engagement and great potential for treating motor, social, and vocal communication impairments in future cerebral disabilities/autism-oriented clinical trials,” she says.