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Phenylketonuria clinical trials

View clinical trials related to Phenylketonuria.

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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: 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: 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: NCT05948020 Recruiting - Phenylketonuria Clinical Trials

Efficacy and Safety of Orally Administered Engineered Probiotics (CBT102-A) for the Treatment of Children With Phenylketonuria

Start date: September 2, 2023
Phase: N/A
Study type: Interventional

This is a randomized, double-blind, placebo-controlled, parallel-group study. A total of 15 children with phenylketonuria(PKU) age 3 to 17 years will be randomized to two groups. Experimental group of 10 children will intervene engineered probiotics (CBT102-A) for 20 days and 5 children will intervene placebo. The goal of this study is to determine whether CBT102-A is an effective and safe treatment for PKU.

NCT ID: NCT05894122 Recruiting - Metabolic Diseases Clinical Trials

Evaluation of Capillary Blood Collection Devices (Mitra® and HemaPEN®)

MitrAlanine
Start date: December 13, 2023
Phase:
Study type: Observational

The aim is to demonstrate a new application for a blood collection device. This device is already widely used in pharmacology. It is not currently used for metabolic diseases. Its ease of use enables repeated sampling at home. What's more, the device can be sent by post, making it ideally suited to the needs of this cohort of children, whose phenylalanine levels need to be monitored very regularly.

NCT ID: NCT05781399 Recruiting - Phenylketonuria Clinical Trials

First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria

Start date: October 31, 2022
Phase: Phase 1
Study type: Interventional

The goal of Parts A and B of this Phase 1, first-in-human, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of single (SAD) and multiple (MAD) ascending doses of oral JNT-517 in healthy participants. In Part C, the goal is to evaluate the differences in bioavailability between a tablet and suspension formulation of JNT-517 and the food effect in healthy volunteers. All participants in Part C will receive JNT-517. The goal of Part D is to assess the safety, tolerability, PK, and effect on urinary Phe and other amino acids of JNT-517 in participants with phenylketonuria (PKU). Participants in Part D will receive either JNT-517 or placebo and will be blinded to their treatment assignment. The study consists of 4 parts: - Part A: SAD in healthy participants -randomized, double-blind, placebo-controlled - Part B: MAD in healthy participants (14 days)-randomized, double-blind, placebo-controlled - Part C: Relative bioavailability of 2 formulations and food effect in healthy participants-randomized, open-label - Part D: Phase 1b in participants with PKU (4 weeks)-randomized, double-blind, placebo-controlled In each part, participants will complete a Screening Period, a Treatment Period, and a Follow-up Period for safety.

NCT ID: NCT05764239 Terminated - Phenylketonuria Clinical Trials

Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3)

SYNPHENY-3
Start date: July 5, 2023
Phase: Phase 3
Study type: Interventional

This is a 3-part, adaptive study consisting of a dose-escalating period (DEP) of up to 15 weeks (Part 1), followed by a 4-week, double-blind, placebo-controlled randomized withdrawal period (RWP) (Part 2), and an open-label extension (OLE) (Part 3) of up to 36 months.

NCT ID: NCT05222178 Terminated - Phenylketonuria Clinical Trials

Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency

Start date: June 3, 2022
Phase: Phase 1
Study type: Interventional

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.

NCT ID: NCT05166161 Recruiting - Phenylketonuria Clinical Trials

A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria

Start date: February 14, 2022
Phase: Phase 3
Study type: Interventional

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.