Active clinical trials for "Phenylketonurias"

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.

Phenylketonuria is a rare metabolic disease that results from the absence or near-absence activity of the enzyme phenylalanine hydroxylase, which metabolizes the amino acid phenylalanine to tyrosine in the body. Accumulation of phenylalanine in the brain causes brain damage that leads to mental retardation, neurological complications, and movement disorders. The study is inherited autosomal recessively. The basis of treatment is a low-protein diet with dietary supplements of aminoxlin without phenylalanine and with appropriate substitutes for micro and macronutrients needed for different ages. A low-protein diet regulates the level of phenylalanine in the blood. This is especially important in childhood. In the study, which will basically consist of theoretical, experimental and numerical work, the investigators will limit to a specific population, i.e. to adult patients with phenylketonuria. The research is intended to prove the hypothesis that with proper nutritional treatment of phenylketonuria in adulthood, we can have a positive effect on the patient's well-being, better blood results and improved lifestyle. The investigators intend to test this hypothesis by implementing a complex, multidisciplinary project that will include a comprehensive treatment of adult PKU patients. This will be based on a multidisciplinary approach with the inclusion of medical and nutritional treatment. As part of the project, the investigators, among other things, create questionnaires and analyze food diaries related to the mentioned areas. Using various statistical techniques, the investigators analyze the impact of individual factors on the success of achieving the objectives of the proposed study. The original contribution to science will be the nutritional treatment of adult patients with phenylketonuria in Slovenia and the consequent reduction of health complications in adulthood of patients with phenylketonuria.

Phenylketonuria (PKU) is an inherited metabolic disorder that impairs the metabolism of the essential amino acid phenylalanine (Phe). Without stringent dietary control, Phe accumulates in the blood and brain of PKU patients, leading to severe cognitive deficits. Achieving metabolic control, defined as blood Phe levels within the range of 120-360 μmol/L, has been a significant challenge for PKU patients using traditional diet therapy. The new FDA approved pharmacologic treatment, Palynziq, offers a new approach that could significantly reduce the burden of PKU by improving blood Phe levels and allowing for a less restrictive diet. As little is known about the global metabolic and physiologic effects of Palynziq, the present study aims to capture changes in diet quality, neurological health, nutritional status, the nutritional metabolome, and patient perceptions of mental and social health with sustained Palynziq therapy.

PKU UP is a prospective, single-arm, open-label, 26-week acceptability study to evaluate PKU UP for the dietary management of participants with phenylketonuria (PKU). Up to 15 participants aged 1 - 10 years old will be recruited and it is anticipated the study will open in at least three sites in the United Kingdom (UK) to recruit the target number of participants in the required timeframe.

Children with phenylketonuria (PKU) are treated with a special diet supplemented with a synthetic protein based on amino acids. These have a poor taste and are inefficiently used by the body. A different type of synthetic protein, called glycomacropeptide is being tried in PKU. It tastes better than amino acids but it requires the addition of some extra amino acids which may worsen how well it is absorbed compared with traditional amino acid supplements. We will perform a 3-part trial in healthy adult volunteers to compare amino acids vs glycomacropeptide protein with a 'normal protein' (casein) to examine the absorption properties of these proteins. Volunteers will take one dose of each of the protein sources on 3 different days. Blood and urine samples will be collected examining the rate of absorption of amino acids over 5 hours on each study day.

An Open-Label, Long-Term Follow Up Study of Safety and Efficacy in PKU Subjects with PAH Deficiency Previously Administered HMI 102

The goal of the proposed study is to elucidate neurologic and neuropsychological improvements associated with Palynziq-related reduction in plasma Phe levels in individuals with PKU. To this end, investigators will utilize state-of-the-art neuropsychological and multi-modal neuroimaging methods to examine the effects of large Phe level reduction (levels <360 μmol/L for at least 3 consecutive months) on GM and WM brain structures, brain concentrations of Phe, functionality of brain networks, and associated cognitive functioning in a sample of individuals with PKU who are being treated with Palyzniq.

This study will evaluate the compliance, acceptability, gastrointestinal (GI) tolerance and safety of a lower calorie amino acid based liquid protein substitute for patients with Phenylketonuria (PKU) or hyperphenylalaninemia (HPA).

Prospective study to compare the bone mineral density in adults with HPA on KUVAN™ therapy to those not on therapy. The investigators hypothesize that after one year of KUVAN™ therapy, there will be an improvement in their bone mineral density.

This is an open-label, randomized, 4-way crossover, monocentric, controlled study in patients (3 ≤ years of age ≤ 20 )) with phenylketonuria (PKU). The primary comparison will be between the test product (PKU GOLIKE PLUS 3-16, a prolonged-release amino-acids (AAs) mixture) and the reference product (an immediate-release free AAs mixture with the same qualitative and quantitative composition of PKU GOLIKE PLUS 3-16). PKU GOLIKE PLUS 3-16 is a food for special medicinal purposes (FSMP) for the dietary management of PKU. The study will consist of a screening visit (T0), four test days taking place on Sunday (T1-T4), each separated by a washout period (a period of time when a participant is taken off a treatment in order to eliminate its effects) and with the study products being self-administered at home, and a final visit (T5). Following informed consent and verification of eligibility criteria, 24 patients with PKU will be randomized in a 1:1:1:1 ratio to one of the four randomization sequences ABCD, BDAC, DCBA or CADB. A, B, C and D will be: A. One day treatment with 3 self-administrations of GOLIKE PLUS 3-16 (1.2 g/kg total daily dose of AA) B. One day treatment with 2 self-administrations of GOLIKE PLUS 3-16 (1.2 g/kg total daily dose of AA) C. One day treatment with 3 self-administrations of free AAs (1.2 g/kg total daily dose of AA) D. One day treatment with 2 self-administrations of free AAs (1.2 g/kg total daily dose of AA) GOLIKE PLUS 3-16 and the free AAs mixture will be the only protein substitute allowed on each test day, and no sports activities will be allowed on the test days. 24-hour urines and five blood spots will be collected on each test day. A patient's diary will be used to collect information on patient compliance, 24-hour urines and blood spot collections, diet, daily activities, adverse events and concomitant medications. Patients completing all four test days will be asked to go to the center for a final visit (T5) taking place within 2 weeks from the last product administration.