Clinical Trial

Disease: Sickle cell disease, SCD, (NCT05951205)

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. 

Frequency:
Sickle cell disease affects approximately 100,000 individuals in the USA and more than 3 million worldwide
Official title:
A Phase 3 Study to Evaluate Efficacy and Safety of a Single Dose of Exa-cel in Subjects With Severe Sickle Cell Disease, βS/βC Genotype
Who:

Contact

Name: Medical Information

Phone Number: 617-341-6777

Email: medicalinfo@vrtx.com

Partners:
Locations:

No information

Study start:
Jan. 1, 2024
Enrollment:
12
Gene editing method:
CRISPR-Cas9
Type of edit:
Gene disruption
Gene:
BAF Chromatin Remodeling Complex Subunit 11A (BCL11A)
Delivery method:
Electroporation
Note:
Exa-cel has been re-named Casgevy.
Indicator
IND Enabling Pre-clinical
Phase I Safety
Phase II Safety and Dosing
Phase III Safety and Efficacy

Status: Not yet recruiting

Description

The purpose of the study is to evaluate the efficacy and safety of CTX001 (exa-cel) in adolescent and adult participants with severe sickle cell disease (SCD), βS/βC genotype (HbSC).

Last updated: Feb. 11, 2024
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