Metabolic Disorders | CHOP Research Institute
 

Metabolic Disorders

The purpose of this study is to find out more about mRNA-3705, a study drug that is being tested and is not approved by the U.

The purpose of this study is to find out if JR-141, an experimental drug, works better than the standard treatment, idursulfase, for MPS II (Hunter Syndrome) and how safe and effective it is in the management of central nervous system symptoms and other body symptoms related to MPS II.

This research study is focused on patients who have Cystathionine beta synthase deficiency Homocystinuria (CBSDH).

Establish connections between biomarkers and the stage and grade of bone and cartilage disease in MPS patients.

Inherited Metabolic Disorders (IMD) are single gene conditions that affect metabolic pathways.

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)

Published on
Apr 27, 2022
Dr. Nissim studies the relationship of the metabolome and the fluxome to the genome in normal and disease states.

Dr. Xiao’s research focuses primarily on methodology and applications in clinical and genetic studies. She has extensive collaborative experience in developmental disabilities, metabolic disorders, EEG monitoring for seizure screening, chronic kidney disease, and juvenile spondyloarthritis.

E-mail:
xiaor [at] chop.edu

The Nissim Lab is led by a biochemist and a pioneer in the application of stable isotopes, mass spectrometry, and Nuclear Magnetic Resonance to study metabolome and fluxome and their coupling to genome in normal and disease states.

Dr. Nissim is a biochemist and a pioneer in the application of stable isotopes, mass spectrometry, and nuclear magnetic resonance to study metabolome and fluxome and their coupling to genome in normal and disease states. His long-standing interest focuses on understanding the cause, mechanisms, and outcome of metabolic disorders.

E-mail:
nissim [at] chop.edu