The first patient with personalized treatment based on a baby’s genetic technology with rare disease
A serious error of carbamil phosphate synthetes 1 in a About 50% of children are estimated to be up to six years.
Canva
The baby born with a rare and dangerous metabolic disease of the genetic origin is the first patient to receive experimental and personalized treatment based on the CRISPR gene editing technique.
The child was born Severe carbamil phosphate deficiency synthetas 1 (CPS1), a Disorder in the metabolism of the urea cycle due to lack of enzyme in the liver It is necessary to remove ammonia from the body, responded positively to treatment, but you should continue to follow to fully assess the therapeutic benefits.
According to Philadelphia’s Children’s Hospital in the United States, the treatment is maintained, the child “It’s growing and improving.”
Baby, right now Nine and a half monthsReceived it Two injections It is seven and eight months and There are no serious side effectsIncreased food proteins were tolerated and medications were reduced.
When normal protein is decomposed The body produced ammonia turned into ureaExpelled by urine.
However, in the presence of the variant in the CPS1 gene, Ammonia accumulates in the blood until it reaches the level of toxicity May be the cause Brain and liver injuries.
One Liver transplantation This may be an option for some patients, however, it should be clinically stable and old enough to submit to the intervention. Is, until these conditions are collected, The risk of rapid organ failure.
The baby in question has passed The first six months of life in the hospital Is subject to most restrictive food.
In the meantime, the medical team conceived Treatment performed by lipid nanoparticlesThese are perceived Liver cellsTo correct the error in the defective gene, the source of the absence of enzyme needed to remove ammonia from the body.
Crispr a Advanced Jean Editing Technique This allows precise changes in living cells.
A serious error of carbamil phosphate synthetes 1 in a About 50% of children are estimated to be up to six years.
