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Phenylketonurias clinical trials

View clinical trials related to Phenylketonurias.

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NCT ID: NCT06305234 Recruiting - Clinical trials for Phenylketonuria (PKU)

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

Start date: January 20, 2024
Phase:
Study type: Observational

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.

NCT ID: NCT06302348 Not yet recruiting - Phenylketonuria Clinical Trials

A Study of Sepiapterin in Participants With Phenylketonuria (PKU)

EPIPHENY
Start date: February 29, 2024
Phase: Phase 3
Study type: Interventional

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.

NCT ID: NCT06289348 Not yet recruiting - Phenylketonuria Clinical Trials

Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.

ANNPHE
Start date: April 2024
Phase:
Study type: Observational

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.

NCT ID: NCT06280261 Completed - Caregiver Burden Clinical Trials

The Struggle That Is Phenylketonuria : What Do The Patients and Caregivers Suffer From

Start date: May 27, 2020
Phase:
Study type: Observational

Objective: To assess the stress levels and life hardships of phenylketonuria patients and their parents.

NCT ID: NCT06147856 Not yet recruiting - Phenylketonuria Clinical Trials

A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria

Start date: March 29, 2024
Phase: Phase 1/Phase 2
Study type: Interventional

The main goal of this study is to assess the safety, and tolerability of multiple doses of mRNA-3210 in participants with phenylketonuria (PKU).

NCT ID: NCT06061614 Recruiting - Phenylketonurias Clinical Trials

Safety and Efficacy Study of NGGT002 in PKU Adult Subjects

Start date: March 30, 2023
Phase: Early Phase 1
Study type: Interventional

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.

NCT ID: NCT05998109 Recruiting - Phenylketonurias Clinical Trials

PheCheck Feasibility Study

Start date: September 5, 2023
Phase:
Study type: Observational

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

NCT ID: NCT05995717 Recruiting - PKU Clinical Trials

Evaluation of PKU UP

PKU UP
Start date: January 11, 2024
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT05972629 Recruiting - Phenylketonuria Clinical Trials

A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria

Start date: August 7, 2023
Phase: Phase 1/Phase 2
Study type: Interventional

This is a single group Phase 1/Phase 2, 1-arm, open-label study with SAR444836, an adeno-associated virus (AAV) vector-mediated gene transfer of human phenylalanine hydroxylase (PAH), for the treatment of adult participants with phenylketonuria (PKU) on a chronic, stable diet. The purpose of the study is to evaluate the safety and efficacy of SAR444836 in reducing phenylalanine (Phe) levels and in the elimination of a Phe restricted diet. Participants will receive a one-time intravenous (IV) administration of SAR444836. The study is constituted of 2 separate parts: a dose escalation part, and a dose expansion part where subsequent participants will be administered a safe and effective dose level identified during the dose escalation part. In both study parts, clinical and laboratory assessments will be collected to: a) assess the incidence of adverse events, and b) evaluate the effect of SAR444836 on reductions in blood Phe levels and maintenance of these Phe levels after elimination of a Phe restricted diet. The study duration will be approximately 102 weeks (approximately 2 years) for each participant and includes a 6-week screening phase and 96-week follow-up period after SAR444836 administration. There will be a total of 41 study visits. Many study visits may occur as remote visits and be performed by a qualified in-home service provider. Actual study duration for an individual participant may be longer than 102 weeks due to the administration of SAR444836 to participants in Stage 1A in a serial fashion, or other factors such as delays in scheduling study visits.

NCT ID: NCT05971563 Active, not recruiting - Phenylketonurias Clinical Trials

Amino Acid Kinetics of GMP-AA in Healthy Human Volunteers

Start date: October 18, 2022
Phase: N/A
Study type: Interventional

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.