Clinical Trial

Disease: Sickle Cell Disease, SCD

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 is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans. The disease is estimated to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans.
Official title:
BEAM-101
Who:
Partners:
Locations:
Study start:
Enrollment:
Gene editing method:
Base editing
Type of edit:
Gene enhancement
Gene:
Gamma globin promotor
Delivery method:
IndicatorIndicator
IND Enabling Pre-clinical
Phase I Safety
Phase II Safety and Dosing
Phase III Safety and Efficacy

Status: Not yet recruiting

Description

BEAM-101 induces single base changes seen in individuals with hereditary persistence of foetal haemoglobin (HPFH).

Using adenine base editors (ABEs), BEAM-101 recreates HPFH by installing base edits in the gamma globin gene promoters, HBG1 and HBG2, that disrupt repressor binding and lead to increased expression of gamma globin.

Last updated: Nov. 24, 2021
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