Metabolic Disorders | CHOP Research Institute

Hunter Syndrome JR-141 Study

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.

OT-58 for Homocystinuria

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

MPS Biomarkers of Joint Disease

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

Executive Function and Healthcare Transition in IMD

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

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)

From ‘Generation to Generation:’ Faculty Spotlight With Itzhak Nissim, PhD

Published on

Apr 27, 2022

in Cornerstone Blog

Faculty Spotlight With Itzhak Nissim, PhD

Dr. Nissim studies the relationship of the metabolome and the fluxome to the genome in normal and disease states.

Rui Xiao, PhD

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

Nissim Laboratory

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.

Itzhak Nissim, PhD

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

How Can Gene Editing Breakthroughs Help Prevent Congenital Disease Before Birth?

Published on

Nov 9, 2018

in Cornerstone Blog

A landmark study provides proof-of-concept for prenatal gene editing to potentially prevent congenital disease.