View clinical trials related to Phenylketonuria (PKU).
Filter by:This is a 10-year multi-center, prospective, longitudinal, single arm study evaluating immunologic, inflammatory and laboratory parameters associated with long-term Palynziq treatment in subjects with phenylketonuria (PKU) in the United States (US). Subjects in the US for whom a clinical decision has been made that they will receive pegvaliase to treat their PKU within 30 days following the date of enrollment in Study 165-501 (incident-users) or who have previously started treatment with pegvaliase at the date of enrollment in Study 165-501 (prevalent-users) are eligible for participation in Study 165-503.
This is a 10-year multi-center, global, observational study to further characterize the safety profile of pegvaliase, including hypersensitivity reactions, long-term safety and tolerability, and the effectiveness of the additional risk minimization measures (aRMMs) (European Union (EU) only) in subjects receiving pegvaliase for the treatment of PKU. Subjects for whom a clinical decision has been made that they will receive pegvaliase to treat their PKU within 30 days following the date of enrollment (incident-users) or have previously started treatment with pegvaliase at the date of enrollment (prevalent-users) are eligible for participation in this study.
This will be case-control study investigating whether dietary intake and components of energy expenditure such as Basal metabolic rate (BMR), physical activity energy expenditure (PAEE) and diet induce thermogenesis (DIT) are different between people with phenylketonuria (PKU) and matched healthy controls. Participants will be children and adults with PKU age between 10 to 45 years old, free from history of any acute and chronic illness. Participants will attend the Metabolic Research Unit at New Lister Building (NLB) after 12-hour overnight fasting refraining from alcohol consumption for at least 24 hours. Any planned exercise will be avoided during the 48 hours prior visit to the Metabolic Research Unit. Height, body weight and handgrip strength will be measured upon arrival at the unit. BMR will be assessed and participants will be asked to provide baseline saliva sample followed by consumption of 8 g deuterium water (D2O) diluted in drinking water. Normal or PKU-type isocaloric breakfast meal will then be provided based on intervention group-type. DIT will be measured 5 times for 3 hours, with each measurement lasting for 20 minutes. Two saliva samples will be collected at 3 and 3.5 hours after ingestion of D2O. Participants will be asked to perform an incremental intensity exercise test for 20 minutes on the treadmill during which expired air will be collected and accelerometer counts and heart rate will be measured. Participants will then be trained on how to recorded food intake and how to use accelerometers for habitual physical activity measurements. PKU participants (and their parents if ≤15 years old) will be asked to complete quality of life (QoL) questionnaires. Participants will be required to wear the accelerometer equipment for seven consecutive days excluding bedtime and keep a record of non-wear times. During these days, they will also prospectively record estimated food and beverages intake over four days including one weekend day.