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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.

RESULTS

Found (11) 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 ...

Phase

Evaluation of PKU Sphere

The rationale for this study is to assess acceptability, adherence and metabolic control in individuals with PKU consuming PKU Sphere, a GMP-based medical food. The sponsor developed PKU Sphere in response to growing interest in GMP medical foods for the purpose of improving adherence and quality of life by offering ...

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

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 ...

Phase

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

MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria

Despite newborn screening and early initiation of treatment, many adolescents and adults with PKU experience some degree of neuropsychological dysfunction or mood disturbances. Blood phenylalanine (Phe) levels and low levels of tyrosine (Tyr) only partially explain why some individuals with PKU have these difficulties and others do not. In this ...

Phase N/A

Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria

This Phase 1/2a, first-in-human, oral single and multiple dose-escalation, randomized, double-blinded, placebo-controlled study of SYNB1618 in healthy adult volunteers and adult subjects with phenylketonuria will evaluate safety, tolerability, kinetics, and pharmacodynamics within the following 2 study parts: Part 1 comprises a single-ascending dose (SAD) study conducted (3 treated:1 placebo) over ...

Phase

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 ...

Phase