In historical medical innovations, children diagnosed with rare genetic disorders have been successfully treated with the CRISPR gene editing therapy of the Philadelphia and Pen Children’s Hospital teams.
KJ, an infant, was born as a rare metabolic disease known as a severe carbine phosphate synthetic deficiency (CPS1). KJ received the first dose of unique treatment after about six months in February after spending the first few months in the hospital for a very limited perception.
Treatment has been safely administered and is now growing and thriving.
This case was explained in detail this week. In the published study The Journal of Medicine -The groundbreaking results that can provide a path for genetic editing technology can adapt successfully to treat individuals with rare diseases without medical treatment.
“In the genetic editing and cooperation between the researcher and the clinic, the progress of the years has made this moment possible, and KJ is only one patient, but we hope that he is the first method of methodology that can be expanded to the needs of individual patients.
CRISPR -based gene editing can accurately correct the variations that cause disease in human genome. These tools are tremendously complex and subtle differences, and by this point, the researchers have aimed at a more common disease that affects hundreds of thousands of patients, the same as two diseases that are currently approved by US food and drug management.
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However, since there are variants that cause many diseases, relatively small diseases benefit from the “one -time” genetic editing approach. Even if this field develops, many patients with rare genetic diseases have been left with rare genetic diseases that affect millions of patients around the world.
The co-author of this study, PENN’s Perelman School of Medicine, professors of translation research professors of the translation research professors of Ahens-Nicklas and Kiran Musunuru, in 2023, in 2023, they started collaboration to study the validity of creating customized genetic editing for individual patients. I built it with a disability. Both of them are members of the NIH Funds Support Somatic Genome Edit Consortium, supporting joint genome editing research.
The duo decided to focus on the urea cycle failure, leading to the accumulation of ammonia by preventing normal destruction of the protein of the body. In general, we know that our body switches ammonia into elements and excretes it through urination. However, children with element cycle disorders lack the enzyme needed to convert ammonia into elements. Then it is piled up to toxicity, which can cause long -term damage, especially in the brain and liver.
After years of preclinical studies with similar disease-induced variants, Ahrens-Nicklas and Musunuru aimed at KJ’s specific CPS1 deformation and confirmed immediately after his birth. Within six months, their team designed and manufactured basic editing therapy that was delivered to the liver through lipid nanoparticles to correct KJ’s defect enzyme.
At the end of February, KJ received the first injection of this experimental therapy and since then, he has received a subsequent dose in March and April.
As of last month, KJ did not experience serious side effects due to three doses. In a short time after the treatment, he increased the protein and wrote the drug of nitrogen spabin. He also could recover from typical childhood diseases such as the Coribirus, without accumulating ammonia on his body.
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Ahrens-Nicklas said, “KJ must monitor carefully for the rest of the life, but the early detection is very promising. Hospital press release.
“We want to have the potential to experience the same results as we saw in the first patient in this patient, and we hope that other investigators will replicate this method for many rare diseases and give them a fair opportunity to live a healthy life for many patients.
“The promise of gene therapy we have heard for decades is fruitful, and we will completely change the way we approach the medicine.”
KJ’s future
Typically, patients with CPS1 deficiency, such as KJ, are treated with liver transplantation. But in order for a patient to receive liver transplantation, it must be medical enough to be able to handle such major procedures. During that period, the episode of the increase in ammonia can continue to be risk of lifelong neurological damage or fatal risk. Because of this threat to lifelong health, researchers knew that finding a new way to treat too young, small and small patients to receive liver transplantation will change life for families facing children with children.
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His mother, Nicole Muldoon, said, “We wanted to find out how we would support him and how to support him.” When doctors came to us with their ideas because it was our responsibility, we could help us not only KJ but other families in our position. I trusted them while hope. “
His father, Kyle Mundoon, said, “We are finally able to gather together at home, so that KJ can be with the brothers and sisters and finally take deep breathing.
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