Gene therapy could save children from a rare genetic disease

This impressive achievement could potentially revolutionize how we treat cancer and immunity deficiencies.
Kavita Verma
Image of doctor with test tube and DNA sequences animation
Gene therapy

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Children born with Artemis-SCID face many challenges, from a missing repertoire of T and B cells to reduced resistance against chemotherapy used in bone marrow transplants. Additionally, malfunctioning DNA repair mechanisms increase the risk of developing graft-versus-host disease, where the donor's immune system attacks host tissues.

That's why researchers are trying everything to find an antidote for such a rare genetic disease and have now turned to gene therapy to treat Artemis-SCID. Gene therapy eliminates the need for donor cells. It further reduces the risks of graft-versus-host disease and graft rejection by inserting a healthy copy of the defective gene into the patient's own blood-forming stem cells.

There's been a trial going on since 2018 by UCSF supported by the FDA, and now the scientists have finally succeeded in saving children from rare genetic diseases.

Infant gene therapy – a breakthrough to save Artemis-SCID children

In a recent medical breakthrough, scientists have discovered how to use gene therapy to treat babies born with Severe Combined Immunodeficiency (SCID), or "bubble boy syndrome," without needing immune-suppressing drugs. 

This new innovation has proven to be potentially life-changing for infants suffering from rare diseases, giving them an exponentially improved chance of leading a relatively healthy and normal life. 

In recent years, humans have taken great strides in gene therapy research, and this technology provides hope that Artemis-SCID can be cured by permanently correcting defective genes.

The new gene therapy involves introducing healthy cells to an infant's marrow stem cells, thereby providing their bodies with corrected genetic material that may prevent long-term complications or death resulting from standard treatments.

Infant gene therapy trial results in stronger immunity

The trial involves children between the ages of 18 months to 4.5 years. Among them, one was born in Canada and diagnosed at five months, and nine (born in the U.S.) were diagnosed following newborn screening for SCID.

Four patients are of Native American descent, where this disease is more common. During the time of study publication, six children had been followed for at least 24 months. 

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Phase I/II of the trial successfully demonstrated the safe transfusion of gene-corrected cells, which differentiated into white blood cells in just six weeks. To prepare their marrow for transplantation, patients only needed to receive 25% of the full dose of busulfan

This impressive achievement could potentially revolutionize how we address cancer treatments and immunity deficiencies. Furthermore, at twelve months post-infusion, there was notable reconstitution within T cell systems: providing further evidence this treatment is beneficial for long-term health outcomes.

Ten patients were treated with their own customized stem cells that quickly developed into corrected peripheral blood within six weeks. By 12 weeks, they had started producing their own T and B cells, four of which reached full immune restoration in just one year! 

Another three showed promising progress towards this goal after only 24 months – a milestone achieved by even donor-transplanted standard treatment patients who took much longer to reach these results before introducing this revolutionary protocol.

A child recently underwent a successful second gene therapy infusion, curing them of their persistent cytomegalovirus infection and restoring full T- and B-cell immunity. 

Miraculously, the results outdid those seen with previous donor bone marrow transplants for Artemis SCID patients!

A better chance of survival

The children in the trial achieved full T-cell immunity, which shows that they have a better chance of surviving than regular bone marrow transplants. 

Jennifer Puck, MD, UCSF pediatrics professor and co-lead investigator in the study, also said that using less chemotherapy on children is also a big win for them as it minimizes the harmful effects of full-dose busulfan in small infants

This gene therapy has only been tested on Artemis-SCID patients as of now. But Puck added that they are using techniques that can be exported to situations that might also help other rare conditions. 

Every revolutionary development begins with a single patient at a time, inspiring the world to create something better.