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A new study from the Lieber Institute for Brain Development finds that promyelinating therapies, including two existing drugs, could be beneficial for Pitt-Hopkins Syndrome patients. Pitt-Hopkins syndrome is a rare neurodevelopmental disorder known to produce symptoms similar to those of autism spectrum disorder. About 500 Pitt Hopkins Syndrome cases have been identified worldwide, according to the National Organization for Rare Disorders.

The study was published in the journal Brain on April 18. Read the paper.

Previous research from the lab of Lieber Institute Lead Investigator Brady Maher, PhD, showed in a Pitt Hopkins syndrome (PTHS) mouse model that disease-causing mutations in the Transcription Factor 4 (TCF4) gene resulted in a reduction in the amount of insulation, or myelin, that is coating the wires, or neuronal axons, of the brain. Reductions in myelin are also a major pathology in multiple sclerosis.

Dr. Maher reasoned that if a compound could increase myelin in the PTHS mouse model brain, it would improve brain function and behavior. The team tested two pro-myelinating compounds and showed that both compounds increased the number of oligodendrocytes, or myelinating cells, and this improved brain function and behavior.

The first drug, clemastine, is a U.S. Food & Drug Administration-approved antihistamine that is well known for its promyelinating effects. The second drug, sobetirome, is currently in clinical trials for improving myelination in multiple sclerosis.

“Our prior publication suggested that defects in myelin appears to be a consistent abnormality across the autism spectrum, and therefore our therapeutic approach may be broadly applicable in ASD,” says Dr. Maher.