View clinical trials related to Phenylketonuria.
Filter by:This is a study about the relationship of brain biomarkers with neuropsychological functioning in PKU. All participants will undergo MRI spectroscopy, will provide a blood specimen and will receive neuropsychological testing.
To evaluate the acceptability, tolerance and effect on metabolic control of PKU Start, a new Phe free protein substitute for the dietary management of PKU in infants from birth.
This study will evaluate the safety, gastrointestinal (GI) tolerance, acceptability and compliance of a Glycomacropeptide-based protein substitute for patients with Phenylketonuria (PKU).
The purpose of this study is to determine if Amish patients with PKU show responsiveness after a high dose, prolonged Saproterin trial. The population of interest has a high frequency of a specific splice site mutation, the 1066-11G>A mutation. This splice site mutation activates a cryptic splice site resulting in an in frame insertion of 9 nucleotides preceding exon 11. This leads to protein conformational changes and abrogation of function. Previous studies of this genotype have indicated <1% residual activity of the PAH enzyme and an insignificant responsiveness to Saproterin. However, in this specific study Phe levels were evaluated only over 24 hours after a single-dose BH4 challenge at the standard dose of 20mg/kg. Based on new clinical information, the investigators hypothesize that if given a prolonged trial of Saproterin at a higher dose, Amish patients with PKU, specifically those homozygous for the c.1066-11G>A mutation, will have a significant reduction in Phe levels or an increase in Phe tolerance and/or improvement in executive functioning and quality of life.
This is a study to determine if a simplified protein counting system, including the free usage of fruits and vegetables low in phenylalanine, will improve the metabolic control in teens and adults with phenylketonuria (PKU). Anybody with a positive diagnosis of PKU, between the ages of 13-65 years will be invited to participate in this study. Subjects will be educated on the simplified system upon enrollment, and historical phenylalanine (Phe) levels will be used for comparison. Subjects will also be asked about their attitudes towards their current Phe counting system.
A Phase 3 substudy to evaluate executive function in adults with phenylketonuria who are participating in the phase 3 Study, 165-302. Approximately 100 subjects, aged ≥ 18 to ≤ 70 years old, with PKU will be enrolled.
Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly occur. Many adults with this disorder also suffer depression and anxiety. In this study the investigators will examine adults with PKU on sapropterin dihydrochloride (Kuvan) treatment for PKU and compare their results to those of subjects with PKU not on Kuvan. Using magnetic resonance imaging (MRI) techniques, including novel MR spectroscopy (MRS) the investigators hope to discover why this distinct constellation of deficits occurs in PKU. Adult subjects with PKU will undergo a comprehensive MRI evaluations, including a novel method of MR spectroscopy to determine brain phenylalanine levels. In addition, participants will receive neurological and neuropsychological examinations and dietary evaluation.
The purpose of this study is to determine whether adolescent and adult patients with phenylketonuria who are on long-term phenylalanine-restricted diet suffer from endothelial dysfunction.
This is a Phase 2a multicenter, double-blind, placebo-controlled, randomized, 2-arm pilot trial designed to assess the effect of sapropterin on cognitive abilities in young adults with Phenylketonuria (PKU) over a 26-week treatment period.
The study is a single-cohort, interventional, open-label trial to evaluate long-term neurocognitive (NC) outcomes in children aged 4 to 5 years with phenylketonuria (PKU) treated with Kuvan® and Phenylalanine-restricted diet over a period of 7 years.