Encouraging Trial for Rett Syndrome Drug

Edison Pharmaceuticals announced favorable results from a six-month Italian trial of a drug that could help patients with Rett syndrome, a rare genetically based neurodevelopmental disorder that affects mostly girls. Boys with the syndrome typically die shortly after birth

Edison Pharmaceuticals announced favorable results from a six-month Italian trial of a drug that could help patients with Rett syndrome, a rare genetically based neurodevelopmental disorder that affects mostly girls. Boys with the syndrome typically die shortly after birth.

An incurable mitochondrial disease, Rett is characterized by a cluster of neurological, behavioral, functional, and other problems. One hallmark is decreased brain growth and head circumference.

The researchers hope that that drug, known as EPI-743, could address “the putative mitochondrial/oxidative stress components of Rett syndrome,” the company said in its announcement. That is undetermined, but the trial at least showed it could increase head circumference in treated patients.

In the Phase II trial, which took 6 months and was conducted at the Azienda Ospedaliera Universitaria Senese in Siena, Italy, 24 children 2.5 to 8 years of age got the drug or a placebo.

Their heads grew on average 0.75 cm compared to 0.29 cm in a control group. Nine of the 12 children who got the drug showed such head-size growth.

According to the drug company, the researchers were not yet able to say whether the drug had an impact on the severity of patients’ conditions.

But in a subgroup of children in the study who showed the greatest head growth, there were “improvements in oxygenation, hand function, and disease-relevant biomarkers.”

These data are being analyzed and will soon be submitted for publication, the company said.

The disease is also characterized by high levels of oxidative stress, known to be a causative factor in many degenerative neurological ailments

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Rett syndrome affects one every 10,000 to 15,000 live female births, usually because of a spontaneous mutation on the MeCP2 gene on the X chromosome.

According to information about the disease on the US National Institutes of Health website, the condition is usually diagnosed between 6 months and 18 months of age.

Rett Syndrome typically worsens from loss of muscle tone and difficulty feeding to seizures, loss of hand use and the ability to speak. Because symptoms can include autistic-like behaviors in its early stages, Rett syndrome is on the autism spectrum.

Named after Andreas Rett, an Austrian physician who first described it in the medical literature in 1966, the disease has four stages.

Stage I includes behaviors that are subtle, such as less eye contact and a reduced interest in toys.

In stage II more serious changes happen, such as loss of communication skills and unsteady walking.

It is at this phase that slower head growth becomes noticeable.

In the third stage, seizures and motor problems emerge, though behavior symptoms may lessen and girls become more alert and sociable.

In the final stage, girls may stop walking and show other serious and debilitating conditions such as muscle spasticity and rigidity.

Rett’s patients typically do not live past age 40.