Investigators at Children’s Hospital of Philadelphia are actively involved in multiple clinical trials and research studies of innovative new therapies. Gene therapy is a promising treatment that involves the introduction of a functional gene to replace a mutated gene or a therapeutic gene to provide a protein that is missing and is being applied to severe inherited blood disorders.

An overview of gene therapy research for hematological disorders

Basic, translational and clinical research efforts by CHOP investigators over the past three decades have resulted in critical developments in gene therapies for hematological disorders. Examples include:

• In 2017, a CHOP physician-researcher led the phase 1/2 trial for the first successful use of gene therapy with factor IX-Padua, demonstrating near curative levels in hemophilia B. The vector used in the trial was developed at CHOP by a longstanding faculty member, Katherine High, MD, who pioneered hemophilia gene therapy efforts and was the founding director of the Raymond G. Perelman Center for Cellular and Molecular Therapeutics.
• A CHOP researcher and colleagues advanced gene therapy for hemophilia B by the discovery and subsequent study of a hyperactive variant for clotting factor IX found in Padua, Italy.
• CHOP researchers are performing preclinical research on more safe and effective gene therapy approaches using viral vectors to treat sickle cell disease and thalassemia.

Clinical trials available at CHOP

There are currently active gene therapy clinical trials for other hematological disorders:

• Check back for an up-to-date list of clinical trials

Research laboratories

These laboratories run by CHOP investigators are focused on gene therapy for hematological disorders.

The Camire Lab 

The lab run by Rodney M. Camire, PhD, is interested in the molecular and cellular processes contributing to and regulating blood coagulation.

The George Lab

The clinical and research interests of Lindsey George, MD, are in the development of novel therapeutics for hemophilia. Dr. George is also the clinical principal investigator of ongoing early phase hemophilia A and B gene therapy trials and long-term follow up of hemophilia gene therapy patients.

Stephan Grupp, MD, PhD

Dr. Grupp, the Chief of the Cellular Therapy and Transplant Section, is leading the CHOP trial for a sickle cell disease gene treatment that uses CRISPR gene editing.

The Kurre Lab

The lab run by Peter Kurre, MD, has a longstanding interest in Fanconi anemia (FA), a rare inherited genetic condition with prominent hematologic complications. The research centers on improving the understanding of the progressive hematopoietic failure that occurs in patients with FA.

Janet Kwiatkowski, MD, MSCE

As the director of CHOP’s Thalassemia Center, Dr. Kwiatkowski was the CHOP lead investigator for the three clinical trials that led to FDA approval of the first potentially curative gene therapy for people who require regular red blood cell transfusions to treat beta thalassemia.

The Olson Lab

The lab run by Timothy Olson, MD, PhD, aims to improve diagnostics and treatment of bone marrow failure (BMF) syndromes, and to improve clinical hematopoietic stem cell transplantation (HSCT) outcomes. The lab conducts clinical trials of HSCT for non-malignant hematologic diseases and explores both basic and translational research focused on genomics of BMF and the impact of BMF on hematopoietic niche function during HSCT.

The Rivella Lab

Investigators in the lab led by Stefano Rivella, PhD, are generating several lentiviral vectors aimed at curing beta-thalassemia and sickle cell anemia, and the team works with various murine models of hemoglobinopathies and patient cells to characterize these vectors.

The Sabatino Lab

The goal of the lab led by Denise Sabatino, PhD, is to develop a gene-based approach to achieve sustained therapeutic levels of factor VIII expression so that hemophilia A patients no longer require frequent protein treatments.

The Samelson-Jones Lab

This laboratory led by Benjamin Samelson-Jones, MD, PhD, investigates biochemical and immunologic questions aimed at furthering the development of new therapeutics for individuals with hemophilia. The investigators are especially interested in gene transfer to cure hemophilia A and hemophilia B with a focus on adeno associated viral (AAV) vectors.