At CHOP’s Leukodystrophy Center, researchers are aiming to reduce the length of the prolonged diagnostic odyssey that many patients with MLD encounter.
Scientists from Children’s Hospital of Philadelphia attend the American Society of Cell & Gene Therapy Annual Meeting to share their expertise through posters, panel discussions, and workshops.
Our team at the Congenital Hyperinsulinism Center at CHOP is working on a research study to determine whether an experimental gene therapy product, DTX401, is safe and effective in people with glycogen storage disease type Ia (GSDIa)
We are doing this study to see if the patterns of abnormalities in controlling insulin in children and adults with hyperinsulinism are related to any underlying genetic cause and to identify possible new genetic causes.
This study involves the collection of medical information and samples from people with a confirmed or suspected leukodystrophy or related disorder affecting the white matter of the brain, as well as "healthy controls" who are not known to be affected by one of these disorders.
