A drug to treat sickle cell disease has performed well in mice and monkeys, in a US study, overcoming some of the limitations that have held back current treatments.
Sickle cell disease is a rare, but serious blood disorder caused by a faulty gene that affects the shape of the red blood cells, due to abnormal haemoglobin – the protein in the red blood cells that carries oxygen.
The disease can be cured with a stem cell, or bone marrow transplant – but comes with a serious risk of the transplanted cells attacking the body – while recently approved gene therapies still require chemotherapy and are very expensive.
Now a team from EARA member Novartis, based at Novartis Biomedical Research, Massachusetts, has sought to overcome these issues by developing a drug that can activate fetal haemoglobin (the primary type of haemoglobin for fetuses in the womb, but a minor type after birth), which can counteract aspects of sickle cell disease.
The researchers searched for compounds and found a protein called WIZ which, when bound with another protein, cereblon, raised levels of fetal haemoglobin in mice and monkeys by 17% – 45%, without the side effects of previous treatments.
The hope is that this compound could one day be made into a pill that can be easily taken by people with sickle cell disease to reduce their symptoms.