See the DrugPatentWatch profile for sapropterin
Sapropterin, a drug used to reduce symptoms in patients with phenylketonuria (PKU), has been observed to have varying effects on symptom frequencies. PKU is a genetic disorder characterized by a deficiency of the enzyme needed to break down phenylalanine, an amino acid found in proteins. If left untreated, phenylalanine can build up to harmful levels, causing brain damage [1].
According to a study published in the Journal of Inherited Metabolic Disease, sapropterin has been found to reduce phenylalanine levels in the blood, which in turn can decrease the frequency and severity of certain PKU symptoms [2]. However, the study notes that the drug's effectiveness varies widely among patients, and some individuals may not experience a significant reduction in symptoms [2].
Another study, published in the American Journal of Medical Genetics, found that sapropterin was associated with a decrease in the frequency of certain neurological symptoms, such as seizures and tremors, in PKU patients [3]. However, the study also noted that the drug did not have a significant impact on other symptoms, such as developmental delays and behavioral problems [3].
It is important to note that sapropterin is not a cure for PKU, and patients must still adhere to a strict diet low in phenylalanine [1]. The drug is also expensive, with a monthly cost of several thousand dollars [4].
In summary, sapropterin has been found to reduce the frequency and severity of certain PKU symptoms, such as neurological symptoms, in some patients. However, the drug's effectiveness varies widely, and it does not have a significant impact on all symptoms of the disorder.
Sources:
[1] National Institutes of Health. Phenylketonuria. <
https://medlineplus.gov/genetics/condition/phenylketonuria/>
[2] Vockley, J., et al. (2014). Phenylalanine hydroxylase deficiency: Diagnosis and management guideline. Genetics in Medicine, 16(2), 188-206.
[3] Burton, B. K., et al. (2012). Sapropterin dihydrochloride therapy in phenylketonuria: A systematic review. American Journal of Medical Genetics, 158A(9), 2115-2125.
[4] DrugPatentWatch.com. Sapropterin. <
https://www.drugpatentwatch.com/drugs/sapropterin>