Drug for rare disease could treat Alzheimer's, autism symptoms - study

The drug, meant to treat symptoms related to ADNP syndrome – a rare genetic disease that causes symptoms such as intellectual disability and autism spectrum disorder – has other applications.

An RNA drug is seen being delivered, targeting infected cells (Illustrative). (photo credit: TEL AVIV UNIVERSITY)
An RNA drug is seen being delivered, targeting infected cells (Illustrative).
(photo credit: TEL AVIV UNIVERSITY)

A Tel Aviv University study found that a drug that was designated as an “orphan drug” by the FDA – meaning it is used to treat rare diseases and is subject to separate regulations – can also treat a variety of symptoms associated with autism, intellectual disabilities, and Alzheimer’s disease.

Prof. Illana Gozes of the Tel Aviv University Sackler Medical School’s Department of Human Molecular Genetics and Biochemistry discovered the drug – named NAP – in 2020. The drug is meant to treat symptoms related to ADNP syndrome, a rare genetic disease that causes symptoms associated with intellectual disabilities and autism.

Prof. Gozes then commissioned this most recent study, which was published in the peer-reviewed scientific journal Biological Psychiatry, with the intention of studying the drug's effect on those suffering from diseases other than ADNP that also exhibit similar mental symptoms.

“NAP, in fact, comprises a short segment of the normal ADNP protein. We previously found that treatment using NAP corrects the function of human nerve cells afflicted with ADNP syndrome in a laboratory test tube,” explained Prof. Gozes. “In this study, we sought to examine the efficacy of NAP in treating various aspects of the syndrome using a model with the most harmful mutation, which allowed us to view brain development and facilitate remedying of behavioral problems,” she continued.

PET scans showing the differences between a healthy older adult's brain and the brain of an older adult afflicted with Alzheimer's Disease (credit: Wikimedia Commons)PET scans showing the differences between a healthy older adult's brain and the brain of an older adult afflicted with Alzheimer's Disease (credit: Wikimedia Commons)

Researchers studied the effects of NAP on mice with ADNP syndrome, finding that the NAP treatment restored a large portion of typical brain function. “To our amazement and joy, we discovered that treatment using NAP normalizes the functioning of these mice for most of the symptoms indicated above," said Grozes.

Prof. Gozes summarized: "We examined the effect of the ADNP gene’s most prevalent mutation in a broad spectrum of aspects and found extensive impairment in physical and cerebral functioning parallel to the symptoms of autism, developmental delay, mental disability, and Alzheimer's disease in humans,” said Prof. Grozes. “Similarly, we examined the potential use of the NAP drug for treating these diseases, and discovered that it is effective against most of these symptoms in lab models.”

“This study is an important milestone on the way to developing a drug, or drugs, that will help children with autism stemming from genetic mutations, as well as Alzheimer's patients," Grozes concluded.