View clinical trials related to Phenylketonurias.
Filter by:This research investigates the effectiveness and safety of large neutral amino acid (LNAA) supplementation in patients with classical phenylketonuria (PKU). Advanced brain imaging techniques alongside comprehensive neuropsychological and functional assessments will be employed. Short-term and long-term follow-up of participants will be conducted.
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.
Ajinomoto Cambrooke has developed a PKU protein substitute that is a proprietary blend of purified Glycomacropeptide (GMP) and essential amino acids, under the brand name Glytactin®. One serving of such Glytactin® products contains 20mg or less of Phenylalanine (Phe). The aim of the proposed study is to use this purified GMP-AA-based protein substitute, with less Phe per gram of protein equivalent than other commercially available products, in children with PKU at 100% of their protein substitute intake and evaluate its efficacy and the change in blood Phe in comparison to Phe-free L-AA-based protein substitutes.
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.
The main purpose of this trial is to evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with PKU when treatment is initiated in early childhood.
The aims of this collaborative, interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare, serious disease present since birth and detected in the context of the systematic neonatal screening (DNS), in terms of the parents' experience, but also on the part of the medical team, in order to improve its process and the support it provides for the announcement of the diagnosis.
Objective: To assess the stress levels and life hardships of phenylketonuria patients and their parents.
The main goal of this study is to assess the safety, and tolerability of multiple doses of mRNA-3210 in participants with phenylketonuria (PKU).
This investigator initiated trial is an open-label, dose escalation study to evaluate the safety, tolerability and efficacy of NGGT002, an AAV derived investigational gene therapy product expressing human PAH enzyme in adult Phenylketonuria (PKU) subjects with PAH deficiency. All participants will receive a single administration of NGGT002 and will be followed for safety and efficacy for 5 years.
The goal of this feasibility study clinical trial is to compare the accuracy of PheCheck⢠for the rapid quantitative detection of phenylalanine (Phe) with the gold standard (HPLC amino acid analyzer), in patients with PKU. The main aims are: - Evaluate the accuracy of PheCheck as compared to the gold standard - Evaluate ease of use by lay participants