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Phenylketonuria Clinical Trials

A listing of Phenylketonuria medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.


Found (14) clinical trials

The BMN 165 clinical development program has been designed to demonstrate the safety and efficacy of BMN 165 in reducing blood Phe concentrations in patients equal or greater than 18 years old with hyperphenylalaninemia due to PKU. Study BMN 165-301 is a Phase 3, open-label, randomized study designed to further ...


Body Composition Energy Intake and Expenditure in People With Phenylketonuria

Anthropometric measurements: Height will be measured using a wall-mounted stadiometer to the nearest 0.01 meter. Body mass will be measured in kilograms using balance scale. Body mass index (BMI) will be calculated using the following formula: BMI = kg/m [weight in kilograms/ height in meters]. 2. Handgrip strength (kilograms): Grip ...

Phase N/A

Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response

The investigators will investigate the effect of blood phenylalanine on Kuvan responsiveness in the same patients with PKU when their blood phenylalanine concentrations are altered by diet. Lowering blood phenylalanine concentrations in Kuvan non-responsive patients with PKU will increase the frequency of Kuvan responsiveness.

Phase N/A

Response to Phenylketonuria to Tetrahydrobiopterin (BH4)

Phenylketonuria(PKU) is an autosomal recessive disorder caused by a defect in the enzyme phenylalanine hydroxylase(PAH). this incidence of PKU in the US is about 1:15,000 births. The disease is pan ethnic with more prevalence among individuals of European ancestry. Recently, a number of patients with PKU showed a marked decrease ...


PKUDOS: Phenylketonuria (PKU) Demographic Outcomes and Safety Registry

The PKUDOS program is a voluntary, multicenter, strictly observational program for patients with PKU who have either received Kuvan therapy, or currently receive Kuvan, or intends to begin receiving Kuvan therapy within 90 days of entering the registry.

Phase N/A

A Study of CNSA-001 in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia

Tetrahydrobiopterin (BH4) is an essential cofactor for phenylalanine hydroxylase, tyrosine hydroxylase, tryptophan hydroxylase, fatty acid glycerylether oxygenase, and nitric oxide (NO) synthase. Primary tetrahydrobiopterin deficiency (PBD) is caused by deficiency of GTP cyclohydrolase I (GTP-CH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), or sepiapterin reductase (SR) that impairs the biosynthesis of tetrahydrobiopterin (BH4) or ...


Educational Social Support and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria

The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD) about their disease and nutrition related issues in a camp environment. It will also look at pregnancy outcome results in women with PKU who attended ...

Phase N/A

SNAP: Study Nutrients in Adult PKU

The aim of this explorative cross-sectional study is to gain quantitative insights on blood nutrient levels of adult PKU patients on a protein substitute.

Phase N/A

GMP Drink for PKU Study

This study will evaluate the safety, gastrointestinal (GI) tolerance, acceptability and compliance of a Glycomacropeptide-based protein substitute for patients with Phenylketonuria (PKU).

Phase N/A

Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase

The investigators will compare intra-subject change in adults with PKU who follow a protein-restricted diet (protein intake less than the RDA for protein based on weight (0.8 g/kg/day) with or without a PKU medical food) within 60 days of starting pegvaliase (baseline) and 9 and 15 months later. The investigators ...

Phase N/A