Wall Street Writes Off Angelman Syndrome Drug, But Scientists Remain Hopeful

Updated May 14, 2019

As a rare genetic disorder, not too many people know about Angelman syndrome (AS). But, parents who have children with AS know all too well the harsh realities that come with the diagnosis. This is why biotech companies such as Ovid Therapeutics are honing in on these rare neurological disorders — to help improve the quality of life of patients.

Small Clinical Trial Shows Improvement

According to STAT News, Ovid Therapeutics carried out a small 88-person trial in 2018. The results showed that when compared to a placebo, the experimental drug OV101 showed signs of improving the symptoms of patients with AS. However, despite these findings, Wall Street did not see promise. Instead, they saw a bunch of red flags.

Why Wall Street Is Skeptical

The skepticism that those on Wall Street showcase isn't without its merits. While the drug showed improvements in one metric, there were 16 others where it failed, including the ability to sleep and the patient's quality of life, which are undoubtedly major factors. However, despite this hindrance, scientists are still hopeful that OV101 will prove to be successful in the future.

Knowledge Is Key to Success

One of the main reasons why doctors saw success where those on Wall Street didn't comes down to CGI-I. CGI-I stands for Clinical Global Impressions of Improvement, and it's a seven-point scale doctors use to score a patient's improvement.

Whereas Wall Street professionals were focused on the measures of the 16 individual symptoms, scientists and doctors relied on the CGI-I scale, which, according to pediatric psychiatrist Dr. Alex Kolevzon, showed a degree of improvement.

Dr. Jeremy Levin, the CEO of Ovid Therapeutics, understands why there is hesitation when it comes to OV101. He acknowledges that since Angelman is a very rare disorder, not too many people have heard about it. When faced with the results of a small clinical trial on patients with a genetic disorder that they likely knew nothing about, it's hard to see the forest for the trees. It's nearly impossible to learn about the disorder and apply that knowledge to an experimental drug which, in theory, helps patients differently depending on the severity of their symptoms.

Seeking FDA Approval

Ovid isn't letting the naysayers get to them, and work on OV101 continues. Currently, the company is seeking approval from the FDA to use CGI-I as the measure of success in the clinical trials. The company has plans to implement another trial this year and if it yields the same results as the one last year, Ovid fully expects the drug to be approved, which could prove to be beneficial for patients diagnosed with the disorder in the future.

What Is Angelman Syndrome?

Angelman syndrome is very rare, affecting only 1 in every 12,000 to 20,000 people worldwide. The cause of the disorder is genetic, relating to a deficiency on the UBE3A gene, which is located on chromosome 15. The severity of Angelman syndrome depends on the type of deficiency, whether it's related to a mutation, deletion or imprinting error. Only about 3 to 5% of cases are inherited, whereas the others are spontaneous in nature.

People with Angelman syndrome have developmental disabilities that range in severity. In addition, they have nerve-related symptoms that may result in seizures, trouble sleeping and walking, and speech delays.

The disorder is present at birth, but most of the time it's not diagnosed until the baby is between 6 and 12 months old when developmental delays become apparent. It doesn't discriminate when it comes to gender, affecting males and females equally. Doctors can diagnose AS usually from symptoms alone, but confirmation requires a genetic test, which typically requires a blood sample.

This genetic disorder is not treatable or curable, but doctors can help patients manage their symptoms. Treatment options vary depending on how severe the disorder is, but it typically involves multiple types of therapies including speech, physical and occupational, as well as medication to help control seizures and help patients sleep better.

Most people with AS will not be able to live independent lives and will require lifelong caretaking due to intellectual and cognitive disabilities. There's currently no way to prevent the disorder as it's often spontaneous, but those who have AS and want to know about their risks of passing it on can gain useful information by speaking with a genetic counselor.

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