Clinical Trial

Disease: Beta-Thalassemia, BT, (NCT05444894)

Disease info:

Beta-thalassemia is a group of blood disorders characterised by a reduction in the production of haemoglobin. Haemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.

Haemoglobin is produced by genes that control the expression of the haemoglobin protein. Defects in these genes can produce abnormal haemoglobins and anemia, which are conditions termed "haemoglobinopathies". Abnormal haemoglobins appear in one of three basic circumstances:

Structural defects in the haemoglobin molecule. Alterations in the gene for one of the two haemoglobin subunit chains, alpha (a) or beta (b), are called mutations. Often, mutations change a single amino acid building block in the subunit. Most commonly the change is innocuous, perturbing neither the structure nor function of the haemoglobin molecule. Occasionally, alteration of a single amino acid dramatically disturbs the behavior of the haemoglobin molecule and produces a disease state. Sickle haemoglobin exemplifies this phenomenon.

Diminished production of one of the two subunits of the haemoglobin molecule. Mutations that produce this condition are termed "thalassemias." Equal numbers of haemoglobin alpha and beta chains are necessary for normal function. Haemoglobin chain imbalance damages and destroys red cells thereby producing anemia. Although there is a dearth of the affected haemoglobin subunit, with most thalassemias the few subunits synthesized are structurally normal.

Abnormal associations of otherwise normal subunits. A single subunit of the alpha chain (from the a-globin locus) and a single subunit from the b-globin locus combine to produce a normal haemoglobin dimer. With severe a-thalassemia, the b-globin subunits begin to associate into groups of four (tetramers) due to the paucity of potential a-chain partners. These tetramers of b-globin subunits are functionally inactive and do not transport oxygen. No comparable tetramers of alpha globin subunits form with severe beta-thalassemia. Alpha subunits are rapidly degraded in the absence of a partner from the beta-globin gene cluster (gamma, delta, beta globin subunits).

In individuals suffering from beta-thalassemia, low levels of haemoglobin lead to a lack of oxygen in many parts of the body. People with beta-thalassemia are at an increased risk of developing abnormal blood clots.


Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia
Official title:
A Multicenter Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Dose of Autologous Clustered Regularly Interspaced Short Palindromic Repeats Gene-edited Cluster of Differentiation 34 (CD34+) Human Hematopoietic Stem and Progenitor Cells (HSPC) (EDIT-301) in Transfusion-Dependent Beta Thalassemia (TDT)

Contact: Editas Medicine Clinical Trial Team617-401-9007






United States, California

University of California San Francisco: Recruiting

Oakland, California, United States, 94609

United States, Minnesota

University of Minnesota: Recruiting

Minneapolis, Minnesota, United States, 55410

United States, New York

Columbia University Medical Center - Department of Pediatrics: Recruiting

Columbia University Medical Center: Recruiting

New York, United States, 10032

United States, Pennsylvania

Children's Hospital of Philadelphia: Recruiting

Philadelphia, Pennsylvania, United States, 19104

United States, Tennessee

Tristar Medical Group Children's Specialists/Sarah Cannon Center for Blood Cancers: Recruiting

Nashville, Tennessee, United States, 37203


Study start:
Apr. 29, 2022
6 participants
Gene editing method:
Type of edit:
Gene enhancement
Haemoglobin Subunit Gamma 1 and 2 ( HBG1/2 promoter)
Delivery method:
Electroporation - Ex-vivo
IND Enabling Pre-clinical
Phase I Safety
Phase II Safety and Dosing
Phase III Safety and Efficacy

Status: Active recruiting


The purpose of this study is to evaluate the safety, tolerability, and efficacy of treatment with EDIT-301 in adult participants with Transfusion-Dependent beta Thalassemia.

This is a Phase 1/2 single-arm, open-label, multicenter study evaluating the safety, tolerability, and efficacy of a single unit dose of EDIT-301 for autologous haematopoietic stem cell transplant in adult participants with TDT, age 18 to 35 years, inclusive.

EDIT-301 is an experimental, autologous cell therapy medicine under investigation for the treatment of sickle cell disease and beta thalassemia. EDIT-301 is comprised of sickle patient-derived CD34+ cells that are genetically modified using a highly specific and efficient CRISPR-Cas12a (also known as Cpf1) ribonucleoprotein (RNP) to edit the HBG1/2 promoter region in the beta-globin locus. Red blood cells derived from EDIT-301 CD34+ cells demonstrate a sustained increase in foetal haemoglobin (HbF) production, which has the potential to provide a durable treatment benefit for people living with sickle cell disease or beta thalassemia.

Last updated: Jun. 5, 2023
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