Clinical Trial

Disease: Sickle Cell Disease, SCD, (NCT04819841)

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 I/II Study of Nula-cel in Autologous CD34+ Hematopoietic Stem Cells to Convert HbS to HbA for Treating Severe Sickle Cell Disease

Study contact:

Name: Jenni Herber

Phone Number:303-437-7356



United States, Alabama 

Birmingham, Alabama, United States, 35294


University of Alabama at Birmingham


United States, California 

Palo Alto, California, United States, 94304


Lucile Packard Children's Hospital


United States, Missouri 

Saint Louis, Missouri, United States, 63110


Washington University

Study start:
Nov. 15, 2021
15 participants
Gene editing method:
Type of edit:
Gene disruption and gene correction
Haemoglobin Subunit Beta (HBB)
Delivery method:
- Ex-vivo
The HDR platform technology, developed by gene-editing pioneers Drs. Matthew Porteus and Maria Grazia Roncarolo at Stanford, received FDA clearance for the IND application of nulabeglogene autogedtemcel (nula-cel). This technology now forms the basis for Kamau’s lead programme, nula-cel, previously developed by Graphite (as GPH-101). Kamau Therapeutics will retain control of all intellectual property (IP) related to HDR-based CRISPR gene correction as well as the IND application.
IND Enabling Pre-clinical
Phase I Safety
Phase II Safety and Dosing
Phase III Safety and Efficacy

Status: Active recruiting


This study (RESTORE) is a first-in-human, single-arm, open-label Phase I/II study of nula-cel in approximately 15 participants, diagnosed with severe sickle cell disease (SCD). The primary objective is to evaluate safety of the treatment in this patient population, as well as preliminary efficacy and pharmacodynamic data.

Participants diagnosed with severe SCD will receive nula-cel via IV infusion following myeloablative conditioning in an autologous HSCT setting.

Last updated: Apr. 20, 2024
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