Formal Trial Name

A Multi-Center, Phase 2 Gene Transfer Study Inducing Fetal Hemoglobin in Sickle Cell Disease: BMT CTN Protocol 2001

Trial Funding

This study is funded in part by the National Institutes of Health (NIH)/National Heart, Lung, and Blood Institute (NHLBI) and the California Institute for Regenerative Medicine (CIRM).

Trial Purpose

To test whether the gene therapy approach (lentiviral vector shRNA), which decreases expression of the BCL11A gene, can improve or eliminate painful episodes.

Trial Background

This phase 2 trial, within the Blood & Marrow Transplant Clinical Trials Network, is based on a pilot/phase 1 study also funded by the NIH being completed at Boston Children’s Hospital, which showed early safety and efficacy in the initial 10 patients enrolled in the trial.

The study is designed to test whether a gene therapy approach targeting the BCL11A (B cell lymphoma/leukemia 11A) gene can eliminate painful episodes. In this study, a patients’ blood-forming cells (blood stem cells) are collected and modified in the laboratory (gene transfer) in order to reduce the expression of the form of hemoglobin that causes the red blood cells to sickle, and to increase a naturally occurring form of hemoglobin that does not sickle called fetal hemoglobin (HbF). The goal of this gene therapy is to maintain high levels of HbF production. In a pilot study, decreasing the expression of this gene in sickle cell patients increased the amount of fetal hemoglobin while also reducing the amount of sickle hemoglobin in their blood, which reduced the severity of the disease. 

“We know that just after birth, babies with sickle cell disease have few symptoms due to their high levels of fetal hemoglobin, and that their red blood cells function perfectly. We aim to “flip the switch” back in red cells by changing the adult red cells into cells more like those in a baby.”

-David A. Williams, MD


  • Male or Female
  • 13-40 years old
  • Had four or more pain episodes or acute chest syndrome requiring hospitalizations or clinic or emergency room visits in the past two years.


  • Be evaluated at a study site (see below for site listing) to assess their ability to be part of the trial.
  • Have monthly blood transfusions for three months prior to gene therapy to prepare for the treatment.
  • Undergo collection of their blood stem cells for gene therapy.
  • Be admitted to a hematopoietic stem cell transplant inpatient unit at a study site for at least one month for bone marrow conditioning, gene therapy administration, and recovery.
  • Undergo close monitoring after gene therapy to assess the safety and efficacy of the treatment.

Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL -

Sonali Chaudhury, MD

Site Principal Investigator

Boston Children’s Hospital, Boston, MA -

David Williams, MD


Protocol Chair

Study Principal Investigator

Erica Esrick, MD

Site Principal Investigator

Children’s Hospital of Los Angeles, Los Angeles, CA -

Neena Kapoor, MD

Site Principal Investigator

Emory University, Atlanta, GA -

Edmund “Ned” Waller, MD

Site Principal Investigator

Medical College of Wisconsin, Milwaukee, WI -

Mary Eapen, MD

Site Principal Investigator

Protocol Officer

University of California Davis, Davis, CA -

Abedi Mehrdad, MD

Site Principal Investigator

University of California Los Angeles (UCLA), Los Angeles, CA -

Gary Schiller, MD

Site Principal Investigator



Boston Children’s Hospital

300 Longwood Ave., Karp 08125.3,

Boston, MA 02115

Office phone number: (617) 919-2697


Potential Questions For Patients To Discuss With Providers and the trial site

  • Do you think this trial could be an option for me to consider? Why?
  • Would I be eligible to participate based on my medical history?
  • What are the risks? What are the benefits?
  • What will happen if I decide to participate?
  • Will my care be any different if I choose to participate?
  • What will be the role of my provider while I am participating?
  • How long is the trial process?
  • How long will I be in the hospital?
  • What specifically will happen during the trial? What procedures will be done? What are the side effects?
  • What happens after the trial?