St. Jude's gene therapy seems to cure "Bubble Boy's disease"

Publication of the St. Jude Children's Research Hospital data from his Phase I / II clinical trial on his gene therapy for XSCID or SCID-X1, also known as "Bubble Boy Disease". published in the New England Journal of Medicine.

XSCID is a severe combined immunodeficiency, one of the most serious forms of primary immunodeficiency disease. Babies born with this disease, less than 100 per year in the United States, have no immune system works. Today, bone marrow transplants can treat the disease more than 90% of the time.

The "bubble boy disease" nickname refers David Vetter, who was born with the disease in 1971. David spent 12 years in a relatively germ-free environment, a kind of bubble, at Texas Children's Hospital. At that time, the only cure was an exact transfusion of bone marrow, but no family member had exact match. David received a bone marrow transfusion in 1984, but died four months later of a lymphoma, probably due to the Epstein-Barr virus during the transfusion. He was 12 years old.

St. Jude has licensed lentiviral gene therapy to Mustang Bio. The Phase I / II clinical trial investigated the safety and efficacy of a lentiviral vector for transferring a normal copy of the IL2RG gene onto bone marrow stem cells in infants under two years of age newly diagnosed with XSCID. The study evaluated 10 infants who received treatment and published data on eight infants with XSCID who were treated at St. Jude and UCSF Benioff Hospital and followed for a median of 16.4 months .

Bone marrow harvesting, busulfan preconditioning and cell infusion were well tolerated. In seven of the eight patients, CD3 +, CD4 + naive natural killer (NK) T cells and natural killer cells were normal within three to four months of treatment. The eighth baby did not have enough T cells at first, but the normalization followed an unconditioned "boost" of cells that had been corrected by a gene and this patient progressed "favorably".

All patients participating in the trial have eliminated previous infections and are developing normally. Most patients left the hospital within a month.

"The results have been very good so far," said Ewelina Mamcarz, assistant member of St. Jude, who led the clinical trial. "All these patients managed to get out of their isolation and returned home with a fully functioning immune system. Patients suffering from very serious infections came to see us and they eliminated this newly developed immune system. "

Mamcarz said Bloomberg"We believe that patients are cured. They lead a normal life and they have a normal and functional immune system that is no different from yours or mine. They are at home, some started day care and they make antibodies in response to vaccines, as we all do. "

Although this is relatively early in the process, it has not been done yet. another strong point how much research has come in integrating gene therapy into traditional medicine. Roche also acquired Spark Therapeutics for $ 4.8 billion in February. Spark is the only biotech company to have successfully commercialized gene therapy in the United States. In this case, Luxturna (voretigene neparvovec) is a rare genetic form of blindness. And Novartis acquired AveXis in April 2018, whose genetical therapy for spinal muscular atrophy (SMA) is expected to be approved in May.