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NCT05270837
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.
NCT06628128
The goal of this Phase 3, open-label extension study is to evaluate the long-term safety and efficacy of JNT-517 in participants with Phenylketonuria (PKU) after completion of either Study JNT517-101 or JNT517-201. In this long-term extension (LTE) study, all adults (aged ≥18 years) who complete Study JNT517-101 will be randomized 1:1 to receive JNT-517 at 75 mg twice daily (BID) or 150 mg BID, regardless of their previous dose. Adolescent participants who complete Study JNT517-201 will receive the same JNT-517 dose of the cohort they were initially assigned to, either 75 mg BID or 150 mg BID.
NCT06792240
This clinical trial study aims to Evaluate whether iron supplementation for 3 months may help reduce Phe blood concentration in PKU patients by enhancing the hydroxylation of Phe to tyrosine (Tyr). 84 patients affected by PKU with low Phe-controlled diet therapy (aged 3-25 years, both genders, 35 females and 49 males), were randomly enrolled in this 3 years study using Randomized Block Design. Patients were divided in two different groups: group (A) was treated with low Phe diet therapy and iron supplementation while group (B) was treated only with low Phe diet therapy. The duration of iron supplementation was 3 consecutive months for each patient in group (A). During this study, 3 hematological and clinical controls were performed at T0 (the enrolment day), T3 (3 months from T0), and T6 (6 months from T0) another TG was done at T1, T2, T4, and T5. During the clinical control blood samples for phenylalanine, and tyrosine were performed on all patients. A computer-generated block sequence balanced randomly assigned subjects to two different groups of 42 patients. The investigator who generated the randomization sequence was independent of the research staff. Energy calculation and diet preparation are according to the "Reference intake levels of nutrients and energy for the Italian population (LARN)" and RDA (USA- Recommended Daily Allowance). The patients were informed through the consent form about all study details. The researcher clarified that the iron supplementation was provided to patients for the purpose of studying "Phe" levels, oxidative stress, and inflammatory reactions, and not for treating Anemia before enrolling in this study. The amount of supplementary iron was decided for patients according to the daily requirement (8- 18 mg / day), according to LARN 2012 and (RDAs) for Iron. The number of patients in group A (42 patients) that consumed iron of 1 sac (14 mg/day) was 26 patients (61.9 %), of them 18 males and 8 females, in comparison with patients that consumption 1 sac an alternative day (14mg/every 2 days) = (7 mg/day- ½ sac/ day) was 16 patients (38.1%) of them 9 males and 7 females. Conclusions and Relevance: * Our data suggests that regular iron supplementation could be needed to obtain better metabolic control in PKU patients, as it seems to be directly linked to lowering blood Phe levels. Thus, support that iron supplementation to PKU patients plays a relevant role for accurate function of PAH enzyme, probably represents one activator and it may can help to decrease the b-Phe value near to the normal range with - 46.7% of Phe, - 74.52% of Phe/Tyr ratio and increase 91.07% Tyr all with (P\<00.1) from the basal values * It is also confirmed that oral iron supplementation with FERALGINE (FB + SA) to these patients could represent "as part of a comprehensive PKU management strategy" considering the high effectiveness and tolerability profile. * additional study is required before the information should be used support our results The investigators declare that no conflict of interest.
NCT04480567
This is a Phase 1/2, open-label, dose escalation study to evaluate the safety, efficacy and tolerability of BMN 307 in adult PKU subjects with PAH deficiency. Participants will receive a single administration of BMN 307 and will be followed for safety and efficacy.
NCT04086511
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). PKU patients have specific dietary needs and must follow a restrictive diet in the aim of preventing toxic levels of the amino acid phenylalanine (Phe) accumulation.
NCT01016392
Kuvan® is a synthetic copy of a body's own substance called tetrahydrobiopterin (BH4). BH4 is required by the body to use an amino acid called phenylalanine in order to build another substance called tyrosine. Kuvan® received marketed authorisation in Europe in December 2008 and is now available in several European countries for the treatment of Hyperphenylalaninemia (HPA). The primary objective is to assess the long-term safety in subjects treated with Kuvan®. Secondary objectives are to provide additional information regarding: * Safety in specific subject groups (elderly, pediatric, pregnant women and subjects with renal or hepatic insufficiency). * Growth and neurocognitive outcomes for subjects with hyperphenylalaninemia (HPA) who are receiving treatment with Kuvan®. * Progress and outcome of pregnancy for women with HPA who become pregnant while receiving treatment with Kuvan® (these women will be enrolled in a dedicated sub-registry). * Assessment of adherence to diet and to Kuvan®. * Assessment of long-term sensitivity to Kuvan®treatment.
NCT01889862
The BMN 165 clinical development program has been designed to demonstrate the safety and efficacy of BMN 165 in reducing blood Phe concentrations in adults with PKU.
NCT03505125
The 165-901 study is designed to identify the appropriate tools for use in future interventional studies on the neurocognitive effects of pegvaliase on adults with PKU.
NCT02440932
Low-phenylalanine diets are commonly prescribed to people with phenylketonuria (PKU), an inborn disease which causes accumulation of amino acid phenylalanine (Phe) in the blood. High blood Phe levels can cause mental, behavioural, neurological, and physical problems. Thus, low-phenylalanine diets help patients to manage their condition but it is not clear whether they have an impact on appetite, energy intake and changes in body weight. This is important to explore as prevalence of obesity in this population is rising high. This study aims to find out the effect of PKU-type meals on appetite, appetite biomarkers, and post-meal energy expenditure. The investigators will recruit 26 healthy adults and ask them to participate in two experimental trials. On one occasion the participants will be asked to consume a PKU-supplemented drink followed by a PKU type-lunch and on another occasion the supplement and lunch will be based on normally consumed foods. Series of blood samples will be taken and appetite will be assessed during both experiments. Both experimental trials will finish with consuming an "all-you-can-eat" buffet.