Gene therapy has restored the immune defenses and restored hope to small patients with Lad-1, affected by recurring infections.
Nine children with a very rare genetic condition that makes vulnerable to recurring bacterial infections They have conquered the possibility of conducting a normal childhood, free from continuous hospitalizations and controls, thanks to gene therapy.
A form of Experimental genical therapy And not yet approved for clinical use has corrected a genetic defect of the blood cells of the young patients. Which, two years after the treatment, were free from symptoms and with an immune function finally similar to that of healthy peers. The results of the study were published on New England Journal of Medicine.
Hunted by infections. The children involved in the research are affected by the defect of the type 1 leukocyte adhesion (Lad-1), a genetic condition that concerns about one person every million born and which involves immunodeficiency. The disease is caused by the mutations of the gene that codes a protein (the CD18) which allows the white blood cells to travel from blood circulation to the sites where there is an infection.
The consequences, which generally appear during early childhood, are recurring bacterial infections especially in the oral cavity, on the skin and in the respiratory tract, which in the most serious forms put life at risk.
An option that is not always practicable. So far, the only possible treatment for the Lad-1 had been the Hematopoietic stem cell transplantationthat is, the progenitor stem cells of all the blood elements collected from the bone marrow of a donor. But in addition to the difficult enterprise of finding a compatible donor, the transplant involves the risk of rejection or of Transplant disease against the guesta side effect in which donor’s immune cells attack the recipient’s body.
What does therapy consist of? During the study, 9 children between 5 months and 9 years of age received genical therapy in three clinical sites: the Ucla Mattel Children’s Hospital in Los Angeles, the Great Ormond Street Hospital in London and the University Infantil Hospital Niño Jesús in Madrid. The therapy, developed by the Biotech Rocket Pharmaceuticals company, Inc., has made it possible to genetically correct the stem cells of the patient’s blood and to transform them into the “donors” they sought.
The stem cells of the blood of the small ones were collected and correct using A modified virus (Lentiveral carrier) capable of safely delivering a functional copy of the defective gene that codes for the CD18 protein in the patients’ stem stem. The correct cells were then reinfuse In the body of the children, where they produced immune cells finally healthy.
The results. Two years after the therapy, all patients – the number is contained for the rarity of the disease – had sufficient levels of CD18 protein, a white blood cells count in the norm and a number of infections in need of much lower hospital hospitalization than before. No adverse events due to gene therapy have been reported, and nobody has incurred rejection reactions or transplant disease disease. Six patients will be monitored For a total of 15 yearsso as to observe the long -term effects of therapy.
A childhood like many others. The children responded very well to treatment and are free from symptoms. The infections and ulcers on their skin and gums, characteristics of the disease, have resolved. The emergency races in the hospital have given way to normal pediatric infections, resolved as happens in children born with healthy immune systems. Three of the young patients are brothers, all affected by Lad-1. The life of an entire family has been transformed, and in the future, if and when the therapy is approved, it is hoped for the same for others.
