Clinical Trial

Disease: Sickle Cell Disease, SCD, (NCT03745287)

Disease info:

Sickle cell disease is a group of disorders that affects haemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical haemoglobin molecules called haemoglobin S, which can distort red blood cells into a sickle or crescent shape.

The production of haemoglobin A, which is the principle type of haemoglobin in humans, is governed by 3 genes: HBA1, HBA2, and HBB. Each haemoglobin A molecule consists of two alpha and two beta chains, and mutations in either of the HBA or the HBB genes may result in abnormal haemoglobin molecules with reduced or diminshed function. Sickle cell diseaase arises from a single point mutation in the 6th codon of the beta-globin gene (HBB), which results in a valine instead of a glutamic acid in the haemoglobin beta-chain.

Abnormal haemoglobin ultimately leads to anaemia as well as other symptoms, depending on the exact mutations present. Diseases caused by defective haemoglobin fall into a larger category of diseases known as the "haemoglobinopathies" which also include the thalassemias, a related group of diseases that are characterised by reduced or deficient rather than abnormal haemoglobin. 

Sickle cell disease affects approximately 100,000 individuals in the USA and more than 3 million worldwide.
Official title:
A Phase 1/2/3 Study to Evaluate the Safety and Efficacy of a Single Dose of Autologous CRISPR-Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (CTX001) in Subjects With Severe Sickle Cell Disease

United States, California

Lucille Packard Children's Hospital of Stanford University, Palo Alto, California, United States, 94304


United States, Illinois

Ann & Robert Lurie Children's Hospital of Chicago, Chicago, Illinois, United States, 60611

University of Illinois at Chicago Hospitals and Health Systems, Chicago, Illinois, United States, 60612


United States, New York

Columbia University Medical Center (21+ years), New York, New York, United States, 10032

Columbia University Medical Center (≤21 years), New York, New York, United States, 10032


United States, Pennsylvania

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19104


United States, Tennessee

St. Jude Children's Research Hospital, Memphis, Tennessee, United States, 38105

The Children's Hospital at TriStar Centennial Medical Center/ Sarah Cannon Center for Blood Cancers, Nashville, Tennessee, United States, 37203


United States, Texas

Methodist Children's Hospital/Texas Transplant Institute, San Antonio, Texas, United States, 78229



Hopital Universitaire des Enfants Reine Fabiola (HUDERF), Brussels, Belgium



The Hospital for Sick Children, Toronto, Canada



Hopital Necker Enfants Malades, Paris, France



University Hospital Duesseldorf, Dusseldorf, Germany

Regensburg University Hospital, Clinic and Polyclinic for Paediatric and Adolescent Medicine, Paediatric Haemotology, Oncology and Stem Cell Transplantation, Regensburg, Germany



Dipartimento di Onco-Ematologia e Terapia Cellulare e Genica Ospedale Pediatrico Bambino Gesu - IRCCS, Rome, Italy


United Kingdom

Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, United Kingdom

Royal London and St Bartholomew's Hospital, Pathology and Pharmacy Building, London, United Kingdom


Study start:
Nov. 27, 2018
45 participants
Gene editing method:
Type of edit:
Gene disruption
BAF Chromatin Remodeling Complex Subunit 11A (BCL11A)
Delivery method:
Electroporation - Ex-vivo
IND Enabling Pre-clinical
Phase I Safety
Phase II Safety and Dosing
Phase III Safety and Efficacy

Status: Active not recruiting


This is a single-arm, open-label, multi-site, single-dose Phase 1/2 study in subjects 18 to 35 years of age with severe sickle cell disease (SCD). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 Modified CD34+ Human Haematopoietic Stem and Progenitor Cells (hHSPCs) using CTX001.

Last updated: Dec. 28, 2023
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