Rare Disease | CHOP Research Institute

Rare Disease

Published on
Oct 14, 2022
Read the latest findings and new grants from Children’s Hospital of Philadelphia researchers.

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)

Our team at the Congenital Hyperinsulinism Center at CHOP is working on a clinical drug trial that involves giving you a study drug called UX033.

Published on
Apr 21, 2022
CHOP engineers are researching how to optimize point-of-care manufacturing within hospitals to save lives while staying safe and compliant.
Published on
Nov 26, 2021
Learn about novel findings and new funding from our Children’s Hospital of Philadelphia researchers.

The purpose of this study is to look at the safety and tolerability (how well you will react) of the study drug (HM15136) and to determine if it is effective for the treatment of Congenital Hyperinsulinism (HI).

Published on
Oct 21, 2021
Findings support lysosomal acidification strategies for pediatric neurodegenerative disorders with impaired mitochondrial quality control.
Published on
Jul 19, 2021
CHOP and Penn researchers find connection between mitochondrial function and mental illness in patients with a rare genetic disorder.

The Dova study is for children below 18 years with primary Immune Thrombocytopenia (ITP) who have had an insufficient response to previous treatment.

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.