United States: In recent developments, scientists who have created a life-saving treatment for a condition that mainly involves children have been able to create such an amazing treatment. 

More about the disorder 

It is called propionic acidemia (PA), which is inherited in nature and causes metabolic disorders. It is so rare that only one in 100,000 people in the US get affected by the disease due to possession of faulty copies of genes required to produce parts of the enzyme propionyl-coenzyme A carboxylase (PCC). The enzyme helps break down specific proteins and fats. 

Without PCC enzymes that are fully functional, unpleasant chemicals will accumulate in the body, causing repeated symptoms called “metabolic decompensation events” (MDE), as livescience.com reported. 

These clinical manifestations are comprised of symptoms such as inattention, nausea and diarrhea, composite loss of fluid leading to dehydration, and extreme conditions resulting in falling asleep or death. These symptoms usually appear to occur a few days after birth as a rare, untypical disease. 

Rare Metabolic Disorder in Children gets new treatment.
Rare Metabolic Disorder in Children gets new treatment.

What are the symptoms and cure of the disease? 

So far, there is no available cure for PA. However, symptom management is the solution, and it has proven to be very efficient using patients placed on a low-protein diet and plenty of fluid intake to prevent dehydration, as livescience.com reported. 

People may in addition require transplantations of the liver, as such swap of the organ which is used for metabolic functions, which can help to restore the level of a patient’s functioning PCC. 

However, scientists are running an mRNA-based study for PA that encodes drug instructions in messenger RNA – a genetic substance that contains information for cell protein production. 

The same compound that is used in Pfizer and Moderna’s COVID-19 vaccines forms the basis of our vaccine’s mRNA technology. A new recombinant DNA molecule called mRNA-3927 is a drug candidate that contains mRNA to make the two deficient subunits of PCC in patients with PA. 

Know about the trial and its groundbreaking findings 

Recently held trial results are published in the journal Nature, in which 16 patients with PA took part. Each of the participant’s ages lay between 1 and 28. Out of them, twelve had completed this interim analysis. 

For the trial purposes, the whole group of patients was divided into five groups. Each group was administered different amounts of mRNA-3927, which were then examined closely to decide upon what works best along with minimal side effects. 

Dr. Dwight Koeberl, a professor of pediatrics at Duke University School of Medicine in North Carolina who was not involved in the research, stated, “This research could potentially improve outcomes for patients with propionic acidemia, who are at risk for recurrent illnesses requiring hospitalization, impaired growth and development, and early mortality,” as livescience.com reported. 

Furthermore, Pawel Swietach, a professor of physiology at the University of Oxford who was not involved in the research, said, “It is very encouraging to see promising results in the first-in-human trial [of this therapy],” and it brings hope to the scientific community in developing treatments for other similar diseases. 


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