A boy with a fatal disease which means his immune system didn’t work is living a normal life after getting a pioneering gene therapy. Eisa Hussain was born with the rare condition leukocyte adhesion deficiency 1 (LAD-1) which means his body could not fight off infections and would have been a “death sentence” that would have claimed his life before his second birthday.
Now aged four, he is one of only nine infants at centres around the world to have received the treatment which modifies the patient’s own immune cells to help them create a missing protein needed to help the body fight infection. These stem cells were then transfused back into Eisa at London’s Great Ormond Street Hospital (GOSH) to enable him to develop a working immune system.
His parents say the hospital “saved his life” and is now attending nursery and enjoys playing football around the house. Dad Safdar Hussain, an architect from Reading, said: “Because of this treatment, he has actually been able to fight infections himself. Great Ormond Street saved his life. He wouldn’t be able to have the life he has now without those services.”
Children born with a severe form of LAD-1 will die before the age of two if they do not have treatment. Before the new therapy, the only hope was a stem cell transplant, but it has to come from a close-match donor or problems can arise. But Eisa’s parents were told there were no matches for Eisa.
Mr Hussain, 37, said that Eisa “didn’t seem right” and an infection led to him being seen in three different hospitals – ending up in GOSH. He added: “Great Ormond Street told us they couldn’t find a bone marrow match so they offered the gene therapy, I said ‘if that’s the only option they have, we have to do it’.”
Eisa was one of two patients who took part at GOSH, with seven other patients with the ultra rare disease at centres around the world.
LAD-1 is an inherited genetic disease. It causes a mutation in the gene ITGB2, which is responsible for making a protein called CD18, which is found on the surface of a specific subset of white blood cells called neutrophils. The blood cells are the “first line of defence” when the body encounters an infection. The amount of CD18 a person “expresses” shows medics how severe their LAD-1 is – if they have less than 2%, like Eisa, then they are deemed to have a severe form of the disease.
Professor Claire Booth, consultant paediatric immunologist at GOSH, said: “From previous studies on patients with this condition that if you have less than 2% expression, it’s essentially like a death sentence without any treatment. We know if you can get above 10% or 15% then those patients actually do well, so we had something to aim for.”
Eisa and Mr Hussain spent months living at the children’s hospital during various stints in 2020 and 2021. Eisa, one of three siblings, had his treatment in January 2021 when he was 10 months old. Before some of his modified stem cells were returned, he was given a course of chemotherapy to essentially wipe out much of his remaining faulty immune system and “make space” in the bone marrow for the working cells to take hold
The difference between receiving working stem cells from a compatible donor is that using a patient’s own modified cells removes the risk that the body will reject them. Scientists hope that the success of Eisa’s breakthrough treatment means the technique could be used to treat other conditions such as cancers and muscular dystrophy.
Prof Booth added: “The possibilities are really far-reaching. I saw Eisa last week and to see him essentially living a normal life – without hospital admissions, without preventative medicines, back to a family life where they can go out and do things with their siblings and their family – that’s what feels really good.”
Mr Hussain said: “He started walking about a year ago, he is at school now. He’s very cuddly and friendly. He loves football, he’ll play football around the house; he loves Bing and he is really fascinated by cars. How he is now is better than I could have ever thought he would be – I never thought he would be able to walk, the next thing for us will be talking.”
All of the children involved in the trial had a severe case of LAD-1 but the findings, published in the New England Journal of Medicine, show they all survived to the two-year follow-up mark. All children had their blood analysed and were found to have the CD18 protein needed to fight infections in the long term, allowing them to stop taking other medications. They had fewer infection-related hospital admissions and the children all showed “normal wound healing”.
Crucially, all nine infants had “durable improvement in neutrophil CD18 expression to levels of at least 10%” – with some reaching levels as high as 82% when compared with healthy cells.
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