CWRU Researchers Identify Promising Treatment For Rare Genetic Disease

A new Case Western Reserve University study, published on Wednesday, may lead to new treatments for a rare and sometimes fatal genetic disorder called Pelizaeus-Merzbacher disease (PMD).

PMD is a progressive, central nervous system disorder, which causes deterioration of motor skills and intellectual functions often in children. Severe cases can be fatal. The gene-linked disorder affects the growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain.  

In the CWRU study, researchers used a family of drugs called antisense oligonucleotides (ASOs) to treat mice with the disease. Lead CWRU researcher Paul Tesar said the drugs regenerated myelin, reduced symptoms, and significantly expanded lifespans of the mice.

“We’ve opened the door to move this forward rapidly into the clinic for this particular disease, but more broadly, we’ve opened the door for a new therapeutic approach to treat this large class of neurological disorders impacted by faulty myelin,” Tesar said.

Other disorders affected by faulty myelin include multiple sclerosis, autism, and dementia, he said.

“We’ve really now demonstrated that we can use this new class of drugs to go after disorders with myelin dysfunction,” he said. 

More research, however, is needed with human patients, Tesar said. Researchers are also looking into whether the treatment is as effective if administered to PMD patients at any time during the disease, rather than early on after diagnosis.

“We personally think that the way we’ve designed this would allow us to impact all of the patients with the disease, but we have to formally show that,” he said.

There is currently no cure or standard course of treatment for PMD. The condition is inherited and primarily affects males.

The study was published Wednesday in the scientific journal Nature.