Clinical Trial

Disease: Sickle Cell Disease, SCD, (NCT04443907)

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 First-in-patient Phase I/II Clinical Study to Investigate the Safety, Tolerability and Efficacy of Genome-edited Hematopoietic Stem and Progenitor Cells in Subjects With Severe Complications of Sickle Cell Disease


Phone: 1-888-669-6682

Phone: +41613241111



United States, California

Childrens Hospital Los Angeles Dept. of Childrens Hospital/LA, Los Angeles, California, United States, 90027


United States, Illinois

University of Chicago SC - 2, Chicago, Illinois, United States, 60637


United States, New York

Memorial Sloan Kettering Cancer Center, New York, New York, United States, 10065


United States, Tennessee

St Jude Children's Research Hospital, Memphis, Tennessee, United States, 38105-3678



Novartis Investigative Site, Milano, MI, Italy, 20132

Study start:
Aug. 26, 2020
20 participants
Gene editing method:
Type of edit:
Gene disruption
BAF Chromatin Remodelling Complex Subunit (BCL11A)
Delivery method:
- Ex-vivo
OTQ923 is a Sickle Cell Disease treatment based on genome editing of Haematopoietic Stem Cells, using CRISPR-Cas9 RNA guides identified through Intellia’s cell therapy research collaboration with Novartis.
IND Enabling Pre-clinical
Phase I Safety
Phase II Safety and Dosing
Phase III Safety and Efficacy

Status: Active not recruiting



This study is evaluating a genome-edited, autologous, hematopoietic stem and progenitor cell (HSPC) product - OTQ923 to reduce the biologic activity of BCL11A, increasing fetal hemoglobin (HbF) and reducing complications of sickle cell disease.

Last updated: Dec. 28, 2023
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