Boy with 'death sentence' illness leads a normal life after breakthrough therapy

A four-year-old boy with a life-threatening immune disease now leads a normal life thanks to a pioneer gene therapy study.

Eisa Hussain, who suffers from a severe form of leukocyten adhesion deficiency 1 (LAD-1), can now play football and the school visits-milestones, which his family once thought was impossible.

LAD-1 cripens the immune system and leaves children susceptible to infections. Without treatment, the hardest cases are often fatal before the age of second.

Before that, the only option was a stem cell transplant, but it is difficult to find a suitable donor. There was no match for Eisa.

In view of this desperate situation, the parents of Eisa wrote him down in groundbreaking gene therapy in the Great Ormond Street Hospital (GOSH). Due to the rarity of heavy LAD-1, the study was carried out worldwide.

Eisa was one of two participants at Gosh and joined seven more from all over the world. The innovative treatment has changed the life of Eisa and offered him a future with the simple joys of childhood.

His father, Safdar Hussain, said “Kuschely and friendly” Eisa is “better than I could have ever thought” after taking part in the process.

Eisa was born in the early days of the first closure during pandemic, but his parents quickly realized that something was wrong.

Mr. Hussain, 37, an architect from Reading, Berkshire, told the Pa news agency that Eisa seemed “not correct” and that an infection was seen in three different hospitals – and ended up in Gosh.

He added: “The Great Ormond Street told us that they couldn't find a bone marrow match, so they offered gene therapy. I said:” If that's the only option you have, we have to do it. “

“Since then, due to this treatment, he has actually been able to combat infections himself.

“The great Ormond Street saved his life. He would not be able to have life that he now has without this service.”

Eisa and Mr. Hussain lived for months in the children's hospital in various stations in 2020 and 2021.

LAD-1 is an inherited genetic disease. It causes a mutation in Gen ITGB2, which is responsible for the production of a protein called CD18, which is referred to on the surface of a specific subgroup of white blood cells, which are referred to as neutrophils.

The blood cells were compared to the “first line of defense” when the body meets an infection.

The amount of CD18 that a person “expresses” shows doctors how serious their LAD-1 is, to what is less than 2 percent as Eisa, they are considered a severe form of the disease.

“From previous studies on patients with this illness that it is essentially like a death sentence without treatment,” said Professor Claire Booth, advisory pediatric immunologist at GOSH, which is one of the world's leading centers for genetic therapy studies in children.

“We know whether they can be over 10 or 15 percent over 10 percent, then these patients actually do well, so we had something to target.”

The new gene therapy causes them by modifying the patient's own cells to create the lack of protein that is necessary to combat body fighting.

These are then returned to the patients, which helps them develop a functioning immune system.

Eisa, one of three siblings, was treated in January 2021 when he was 10 months old.

He received chemotherapy before the stem cell transplantation to “create space in the bone marrow” to facilitate the transplant.

Experts said that with the help of a patient's own stem cells there is no risk of rejection or a transplant-to-host disease in which donated cells attack the body of the recipient.

Doctors described how Eisa was in a “Catch-22” station because he also had to be treated with his heart's heart, but LAD-1 also causes problems with wound healing, so that he would probably not be able to have the operation before genetic therapy.

After the successful gene therapy, which Rocket Pharmaceuticals sponsored, Eisa was able to carry out his heart process without complications.

Mr. Hussain said: “He started running about a year ago, he is now at school.

“He is very cozy and friendly.

“He loves football, he will play football in the house; he loves Bing and he is really fascinated by cars.

“As he is now, it is better than I could ever have had – I never thought that he could go, the next one will talk to us.”

Prof. Booth, who is also a professor of gene therapy and pediatric immunology on the UCL, added: “I saw the Eisa last week and essentially live it – without hospital admissions, without preventive medication, back to a family life where they can go out and do things with their siblings and family – that feels really good.”

She said the success of the study opens the doors for gene therapy, which is to be used in a number of diseases, including cancer and muscular dystrophy.

“The possibilities are really far -reaching,” she added.

All children involved in the study had a difficult case of LAD-1.

The results published in the New England Journal of Medicine show that they all survived until the two-year follow-up brand.

After the treatment, all children had analyzed their blood in the study, and it was found that the CD18 protein that was fought for long -term infections needed so that they could set other medications.

The researchers also reported a reduction in infections; After gene therapy, fewer hospital admissions in connection with the hospital and the children showed “normal wound healing”.

The author, including experts from GOSH, UCL, the University of California, Los Angeles (UCLA) and the Infantil Universitario Nino Jesus in Madrid, Spain, said that there is “persistent clinical benefits in all patients” and most would have registered for long -term tracking of up to 15 years.

They also found that all nine patients had a “permanent improvement in neutrophils CD18 expression on mirrors of at least 10 percent”, with some values ​​of up to 82 percent reaching compared to healthy cells.

There were no security events or deaths, but there were a number of unwanted events associated with pre -infusion treatments.

Before its treatment, the Eisa had chemotherapy, which led to hearing loss, a frequent side effect of certain chemotherapy regimes in small children.