Loading clinical trials...
Loading clinical trials...
Showing 1-11 of 11 trials
NCT05051657
A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM. The following parameters will be assessed: adherence to prescribed dietary intakes, palatability, usability, gastrointestinal tolerance, clinically relevant routine biochemical parameters, timeframe to transition and contribution of the express plus range to overall protein substitute intake over a 28 day period.
NCT05356377
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.
NCT06560736
While previous PKU intervention research has largely focused on pharmacological treatment of elevated Phe levels, the adaptation of evidence-based psychosocial therapy holds promise for addressing cognitive and psychological symptoms and significantly improving quality of life. Study goals include: (1) to demonstrate the efficacy and feasibility of a short-term skills-based intervention (Show Me FIRST) for anxiety and depression in adolescents with PKU, and (2) to further establish the psychometric validity of novel assessment measures recently developed by the Investigators that utilize ecological momentary assessment (EMA) to capture "in the moment" neurocognitive and psychological function. The Investigators propose to conduct a randomized controlled trial wherein 30 adolescents with PKU will be randomized to either an immediate intervention group or wait-list/delayed intervention group.
NCT06332807
This is a Phase 1/2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic Phenylketonuria (PKU). NGGT002 is an rAAV8 based vector carrying a functional copy of the human PAH gene. Participants will receive a single administration of NGGT002 and will be followed for safety and efficacy for 5 years.
NCT03419819
A prospective, open-label study of PKU Sphere in patients with PKU following a phenylalanine restricted therapeutic diet.
NCT03856203
Conduct a prospective, longitudinal study to evaluate nutritional status in adults with phenylketonuria (PKU) before and during treatment with pegvaliase (Palynziq™).
NCT04452513
This is a study for adults and children ≥ 14 years old who have Phenylketonuria (PKU) with uncontrolled plasma Phe levels. No clinical intervention or study drug is provided by BioMarin in this study.
NCT04110496
This study will evaluate the safety and tolerability of RTX-134 in adult patients with PKU.
NCT04433728
You were detected during the neonatal period for phenylketonuria and you benefited from the diagnosis of an adapted dietetic care, and this for a variable duration according to the recommendations followed at that time. The recommendations for the management of phenylketonuria have evolved considerably over time, lengthening the duration, rigor of the diet and target rates. However, few studies have been able to determinate the influence of metabolic balance and pediatric management on fate in adulthood. As you know, the current recommendations are more stringent and prolonged, without taking into account the pediatric data of today's adult patients. The objective of this study, which is aimed at all adult patients screened and followed by Lille University Hospital, according to the same care methods, allowing a homogeneous monitoring of patients, is to assess the influence of pediatric care (duration of the diet, metabolic balance, compliance) on the future in adulthood. This retrospective and current analysis work could help refine the current recommendations.
NCT04302194
The study aim is to follow up body growth(body weight by kg, length by cm, head circumference, abdominal circumference, and body mass index ) and mental development of infants on phenylalanine restricted diet in comparison with normal matchable infants.
NCT03333720
Thirty eligible PKU patients (≥ 8 years), identified as tablet protein substitute users, will be recruited. Patients will firstly observe a 7-day baseline period, in which participants will continue with their existing diet, protein substitute and multi vitamin prescription. Patients will then receive the phaenylalanine-free protein substitute tablets daily for 28 days in addition to appropriate nutritional management. The aim of this prospective, single arm trial is to evaluate the acceptability (compliance, tolerance and palatability) of the phenylalanine-free protein substitute tablets in patients with proven PKU. The primary outcome measure is compliance, with secondary outcome measures of gastrointestinal tolerance, acceptability, blood amino acids, dietary intake, anthropometry and safety.