Active clinical trials for "Phenylketonurias"

The study is a single-cohort, interventional, open-label trial to evaluate long-term neurocognitive (NC) outcomes in children aged 4 to 5 years with phenylketonuria (PKU) treated with Kuvan® and Phenylalanine-restricted diet over a period of 7 years.

This is a study to determine if a simplified protein counting system, including the free usage of fruits and vegetables low in phenylalanine, will improve the metabolic control in teens and adults with phenylketonuria (PKU). Anybody with a positive diagnosis of PKU, between the ages of 13-65 years will be invited to participate in this study. Subjects will be educated on the simplified system upon enrollment, and historical phenylalanine (Phe) levels will be used for comparison. Subjects will also be asked about their attitudes towards their current Phe counting system.

The primary objective of the study is to evaluate the effect of dosing regimens of multiple subcutaneous (SC) doses of rAvPAL-PEG to induce an early and sustained Phe reduction while decreasing the frequency and severity of hypersensitivity reactions in patients with PKU.

This study aims to measure changes in participants' blood phenylalanine (Phe) levels in participants with PKU when switching from a conventional amino acid based protein substitute to a GMP based protein substitute (PKU Sphere) over a 16 week period.

The main purpose of this trial is to evaluate the efficacy of PTC923 in reducing blood phenylalanine (Phe) levels in participants with phenylketonuria as measured by mean change in blood Phe levels from baseline to Weeks 5 and 6 (that is, the average of each respective treatment dose 2-week period of double-blind treatment).

This multicenter, open label study is designed to evaluate the safety of Kuvan® and its effect on neurocognitive function, blood Phe concentration, and growth in children with PKU who are 0-6 years old.

The objective of this study is to evaluate the safety of long-term treatment with Phenoptin in subjects with phenylketonuria (PKU) who participated in Phase 3 clinical studies with Phenoptin.

The primary objective of this trial is to evaluate the safety and tolerability of long-term Phenoptin treatment in subjects with PKU.

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.

Randomised controlled trial with a crossover design. For early and continuously treated patients with phenylketonuria (PKU) that are adherent. Two 12-week periods where patients consume either casein glycomacropeptide (CGMP) based protein substitute or a free amino acid (AA) based protein substitute. 4 week wash out period in between. The protein substitutes will be consumed daily together with the patient's regular low protein diet.