Erasmus MC-Sophia Children’s Hospital, Rotterdam led a clinical trial that unfortunately fell short in their hopes that a drug used for tumors and epilepsy in people with tuberous sclerosis complex, failed to boost the patients’ intelligence or ease autism traits.

Background: The Hope for Everolimus to Treat Autism & Intellectual Disability Symptoms

Tuberous Sclerosis Complex is a rare genetic disease, reports Alla Katsnelson of Spectrum, characterized by benign tumors called tubers that spread throughout the body not to mention in many cases epilepsy. Caused by mutations in one of two genes, they spike the activity mTOR, a pathway. Everolimus, an analog of the immunosuppressant rapamycin, blocks the pathway.

Researchers point out that about 50% of all patients with TSC have autism and many struggles with intellectual disability. Preclinical (animal) studies and anecdotal evidence from clinical trials reveal that everolimus might also treat these conditions.

The Study & Results

In this trial published in Neurology, the Dutch-led team recruited 32 children with TSC who met at least one of the following criteria: an intelligent quotient (IQ) below 80, a learning disability, attendance at a special school or a diagnosis of autism. They gave 15 of the children once-daily tablets of everolimus for a year, and the reaming 17 children a placebo.

Unfortunately, the disappointing results from the study align with those of a six-month clinical trial published in 2017. Apparently, both of these trials started in children of preschool age and older—but the new trial tested everolimus in children aged 4 to 17 and the 2017 trial in patients aged 6 to 21. The 2017 trial was led by Harvard’s Mustafa Sahin.

The researchers assessed the children’s cognition and behavior using a full-scale IQ test, several other assessments and the Autism Diagnosis Observation Schedule reported Spectrum News. This is the gold-standard test for autism.

Unfortunately, neither group evidenced improvements in any of the identified measures. Actually, everolimus appeared to make the conditions worsen slightly although not statistically significant reports Spectrum author Alla Katsnelson.

What is Everolimus?

Everolimus is the 40-O-(2-hydroxyethyl) derivative of sirolimus and works similarly to sirolimus as an inhibitor of mammalian target of rapamycin (mTOR). Currently used as an immunosuppressant to prevent rejection of organ transplants and in the treatment of renal cell cancer and other tumors. Much research has been conducted on everolimus and other mTOR inhibitors as targeted therapy for use in a number of cancers. Everolimus is also available from Biocon, with the brand name Evertor.

Lead Research/Investigator

Marie-Claire de Wit, pediatric neurologist, Erasmus MC-Sophia Children’s Hospital, Rotterdam

Call to Action: Interested in learning more about this line of research? We recommend contacting Dr de Wit. TrialSite Network matching services can make an introduction.

Source: Spectrum News

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