View clinical trials related to Phenylketonurias.
Filter by:This is a Phase 4 observational study designed to assess the impact of Palynziq ® (pegvaliase) treatment in pregnant women with PKU and on their offspring who were exposed to pegvaliase at any time during pregnancy and breastfeeding.
The study has shown that the strengthening program applied to the families of children diagnosed with phenylketonuria (PKU) and the education given; It will be conducted in order to examine the effect of the family's coping attitudes, knowledge scores about the disease and its management. The research is of the randomized controlled experimental type. Children from PKU constitute the universe in the city center of Van. The families of children between the ages of 0-3 who were diagnosed with PKU will form the sample of the study. A nursing strengthening program will be applied to families in the experimental group for 10 weeks. The scope of this program; It consists of face-to-face training on disease management, giving the educational guide (booklet) for the families of babies diagnosed with PKU, telephone calls during the education process and counseling services. No application will be made to the families in the control group. After the application of the last tests to the control group; Face-to-face training and a booklet will be given to the experimental group. Data; It will be collected with 'Child and Family Introductory Information Form', 'Parents' Information Level Assessment Form about Phenylketonuria' and 'Coping Attitudes Assessment Scale'. In the literature, there is no study showing the effect of the education given to the families of babies diagnosed with PKU on their coping attitudes. Based on the need to fill this knowledge gap in the literature, it is thought that the study will contribute to the field of child health and disease nursing.
This is a 2 arm, randomised, controlled, cross-over study in 16 children with PKU. Subjects who are currently taking a Phe free/low Phe protein substitute will be recruited for a 31-day trial. Patients will be randomised to receive: 1. The study product for 7 days as their last dose of protein substitute for the day (at least one sachet with 15g PE) in an amount equivalent to their usual protein substitute PE; or 2. An amino acid protein substitute for all daily doses for 7 days; followed by a 2-week washout period on their usual protein substitute, and then 7 days of the other study arm. During this time, patients/caregivers will be asked to: - Collect 3 finger prick blood spots on days -1, 0, 6, 7, 20, 21, 27 and 28. - Collect urine sample, second void of the day on days 0, 7, 21 and 28. - Complete a questionnaire on sleep quality on day 0, 7, 21 and 28. - Complete a 24 hour food diary on days -1, 0, 6, 7, 20, 21, 27 and 28. APR will supply the study product for participants free of charge.
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 is a Phase 3 open-label randomized controlled study enrolling approximately 54 adolescents with PKU. The study is designed to assess the safety and efficacy of pegvaliase injections.
In the UK, some fruits and vegetables are permitted without measurement in the diets of people with phenylketonuria (PKU). It is proven that fruits and vegetables containing phenylalanine (Phe) up to 75mg/100g (e.g. carrots, sweet potato, tomatoes) do not affect blood Phe control but it is unknown to what extent fruits and vegetables containing Phe from 76-100mg/100g (e.g. cauliflower, broccoli, beansprouts and asparagus) increase blood Phe levels. In addition, there is very little information about how differently animal and vegetable protein affect blood Phe levels. It is believed that plant protein may have less bioavailability and therefore have less impact on blood Phe control. The investigators aim is to perform a randomized controlled study over 21 weeks in children (5-12y) with PKU. Children will be studied during five different time periods, examining the effect on blood Phe control when increasing Phe intake from vegetables/fruits containing Phe from 76-100 mg/100g vs. animal sources. At the end of the study, fruits and vegetables containing 76- 100mg Phe/100g will continue to be given as "exchange-free" for 6 months. This is a practical, cost effective study and should bring benefit to all people with PKU following a very restrictive diet both within the UK and throughout the world.
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.
This is an open-label, sequential ascending dose-escalation, Phase 1 study to evaluate the safety and efficacy of a single intravenous (I.V.) administration of HMI-103, a gene editing development candidate, in adult participants aged 18 to 55 years, inclusive, with classical PKU due to PAH deficiency who have uncontrolled disease despite Phe restricted dietary management.
This research investigates the effects of combining a phenylalanine restricted diet (usual care) with LNAA supplementation (adjuvant LNAA) in well-controlled adults with classical PKU. The hypothesis is that symptoms are improved in well-controlled patients who receive adjuvant LNAA therapy compared with diet monotherapy. Six symptomatic classical PKU adults will be enrolled to test the hypothesis in a small series of N-of-1 randomized controlled trials over 18-weeks. All assessments will be collected in patient's homes. A 3-month follow-up period will assess the longer-term effects of adjuvant LNAA in patients who show clinical benefit at the end of the intervention period.
The main purpose of this study is to evaluate the long-term safety of PTC923 in participants with phenylketonuria, and to evaluate the changes from baseline in dietary phenylalanine (Phe)/protein consumption.