PHILADELPHIA— A devastating genetic disease called CDKL5 deficiency disorder (CDD), which strikes in early childhood, may be significantly treatable even in adulthood, a new study from the Perelman School of Medicine at the University of Pennsylvania suggests.

CDD is caused by the mutation of a gene called CDKL5, which is thought to play an important role in steering proper brain development during childhood. In the study, published today in theJournal of Clinical Investigation, researchers found compelling evidence that the gene is important in the brain even after childhood. When they switched off the gene in healthy adult mice, the mice developed severe neurological problems like those seen in mice that lack the gene from the start of life. The scientists then tried reinstating CDKL5 gene activity in young adult mice that had been deprived of it throughout early life, and found that the animals became mostly normal.

“One of the big questions for any genetic disease concerns the curability of the disorder and the extent of the time window in which a therapeutic approach, such as gene therapy, can help patients. Encouragingly, we found evidence from these mouse experiments that CDD is likely treatable, even after childhood,” said senior author Zhaolan “Joe” Zhou, PhD, a professor of Genetics at Penn.