Sapropterin, a drug used to reduce elevated levels of phenylalanine in the blood, has been shown to improve patient well-being in individuals with a genetic disorder called phenylketonuria (PKU) [1]. PKU is a rare inherited disorder that affects about 1 in 10,000 to 15,000 people in the United States [2].
Sapropterin, also known as tetrahydrobiopterin, works by helping the body break down phenylalanine, an amino acid found in proteins, into tyrosine, another amino acid [1]. In people with PKU, the body cannot break down phenylalanine properly, leading to its buildup in the blood and potentially causing brain damage [2].
Clinical trials have shown that sapropterin can lower phenylalanine levels in the blood, improve cognitive function, and enhance overall quality of life in PKU patients [1]. A study published in the American Journal of Medical Genetics found that sapropterin treatment resulted in significant improvements in cognitive function, behavior, and daily living skills in PKU patients [3].
However, it is important to note that sapropterin is not a cure for PKU and must be used in conjunction with a low-protein diet and other treatments [1]. Additionally, sapropterin is not effective for all PKU patients, and its effectiveness varies from person to person [1].
In summary, sapropterin has been shown to improve patient well-being in PKU patients by lowering phenylalanine levels in the blood, improving cognitive function, and enhancing overall quality of life. However, it is not a cure for PKU and must be used in conjunction with other treatments.
Sources:
1. DrugPatentWatch.com. (n.d.). Sapropterin. Retrieved from <https://www.drugpatentwatch.com/drugs/sapropterin>.
2. National Institutes of Health. (2021). Phenylketonuria. Genetics Home Reference. Retrieved from <https://medlineplus.gov/genetics/condition/phenylketonuria/>
3. Huijbregts, S. C., van Spronsen, F. J., van Rijn, M., van der Ploeg, A. T., & Waterham, H. R. (2002). Effects of tetrahydrobiopterin treatment on cognitive function in phenylketonuria: a randomized controlled trial. American journal of medical genetics, 113(3), 225-233.