US researchers have successfully developed a potential gene therapy for Diamond-Blackfan anaemia, it has been announced. So far, the treatment has been tested in laboratory studies.
Researchers led by Professor Vijay Sankaran from Boston Children’s Hospital, Massachusetts say their clinical grade treatment is now ready – and they are hoping to take it to clinical trials.
They say their therapy is one of the first examples of treating 30 different genetic mutations with a single vector, which increases production of the master regulator GATA1 specifically in red blood cell precursors.
Writing in Cell Stem Cell, Professor Sankaran and his team explain: “More than 30 mutations cause Diamond-Blackfan anaemia (DBA) through impaired ribosome function and lead to inefficient translation of the erythroid master regulator GATA1, providing a potential avenue for therapeutic intervention applicable to all patients with DBA, irrespective of the underlying genotype.
“We show that this vector is capable of augmenting erythropoiesis in DBA models and diverse patient samples without impacting haematopoietic stem cell function or demonstrating any signs of premalignant clonal expansion. These preclinical safety and efficacy data provide strong support for the first-in-human universal gene therapy trial for DBA through regulated GATA1 expression.”
A spokesperson from Boston Children’s Hospital added: “Currently the only cure is a stem cell transplant, but this is only a viable option for select patients. Otherwise, children with DBA require lifelong follow-up care to manage symptoms, such as steroids and blood transfusions.”
Source:
Voit RA, Liao X, Caulier A, Antoszewski M, Cohen B, Armant M, Lu HY, Fleming TJ, Kamal E, Wahlster L, Roche AM, Everett JK, Petrichenko A, Huang MM, Clarke W, Myers KC, Forester C, Perez-Atayde A, Bushman FD, Pellin D, Shimamura A, Williams DA, Sankaran VG. (2024) “Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia.” Cell Stem Cell, 11 November 2024, doi: 10.1016/j.stem.2024.10.012.
Link: https://www.cell.com/cell-stem-cell/fulltext/S1934-5909(24)00374-6
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