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Rare Disease

In the News: CureARS, Pigment Production, TBCK

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

DTX401 Gene Therapy in Glycogen Storage Disease (GSD) Type Ia

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)

UX053 in GSD III

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.

3D Printing in a Pandemic: Turning CHOP Into a Next-Gen Hospital

Published on
Apr 21, 2022
in Cornerstone Blog
3D Printing in a Pandemic: Turning CHOP Into a Next-Gen Hospital
CHOP engineers are researching how to optimize point-of-care manufacturing within hospitals to save lives while staying safe and compliant.

In the News: MRSA, EoE Clinical Trial, Rare Disease, Exploring the Hypothalamus

Published on
Nov 26, 2021
in Cornerstone Blog
MRSA, EoE Clinical Trial, Rare Disease, Exploring the Hypothalamus
Learn about novel findings and new funding from our Children’s Hospital of Philadelphia researchers.

HM15136 for the Treatment of Congenital Hyperinsulinism Research Study

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).

Snapshot Science: Could Improved Mitochondrial Function Affect Pediatric Neurodegeneration?

Published on
Oct 21, 2021
in Cornerstone Blog
TBCK-patient derived fibroblasts
Findings support lysosomal acidification strategies for pediatric neurodegenerative disorders with impaired mitochondrial quality control.

Researchers Explore Connection Between Mitochondrial Function and Schizophrenia in 22q11DS

Published on
Jul 19, 2021
in Cornerstone Blog
Mitochondrial Function and Schizophrenia in 22q11DS
CHOP and Penn researchers find connection between mitochondrial function and mental illness in patients with a rare genetic disorder.

Dova Study for Children with Immune Thrombocytopenia (ITP)

Dova Study for Children with Immune Thrombocytopenia

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

Phenotypes of Congenital Hyperinsulinism

Phenotypes of Congenital Hyperinsulinism

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.