Clinical trials: Phenylketonurias
Phenylketonurias
Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of CDX 6114 in PKU Patients
The primary objective is of this Phase 1 study is to evaluate the safety and tolerability of daily, multiple, oral doses of CDX-6114 when administered to patients with PKU for 14 days.
- Trial name
- NCT04256655
- Testing
- cohort 1 0.225g, Cohort 2 0.75g, Cohort 3 2.25 g
- Sponsor
- Société des Produits Nestlé (SPN)
COPD, Tetrahydrobiopterin Deficiency
O2 Transport and Utilization in Health and Lung Disease
Skeletal muscle dysfunction is a frequent and clinically relevant systemic manifestation of Chronic Pulmonary Obstructive Disease (COPD), which is still poorly understood.
- Conditions
- COPD, Tetrahydrobiopterin Deficiency, Oxidative Stress
- Trial name
- NCT04014712
- Testing
- Tetrahydrobiopterin
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Massachusetts, Amherst
Phenylketonuria, Hyperphenylalaninemia
Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Phenylketonuria (PKU) is a rare disease where the level of phenylalanine (one of the amino acids) in the body is greatly increased. High levels can cause brain damage, especially in babies and children.
- Trial name
- NCT01869972
- Where
- 2 sites in Canada
- Volunteers
- 32 people
- Sponsor
- Hamilton Health Sciences Corporation
Phenylketonuria
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.
- Trial name
- NCT00841100
- Testing
- Kuvan, Diet
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- University of Miami
Phenylketonuria (PKU)
The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria
Recommendations regarding the frequency of phenylalanine level monitoring lack solid support from evidence derived from prospective randomized trials, including in the adult population with classic PKU.
- Trial name
- FreqPHEncy (NCT07825883)
- Testing
- DBS Phe monitoring once weekly, DBS Phe monitoring once monthly
- Where
- Poland
- Volunteers
- 36 people
- Sponsor
- Michał Kania
Phenylalanine Hydroxylase Deficiencies
Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety
The aim of the study is to confirm the efficacy and safety of BH4 in the treatment of hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency in patients responsive to BH4.
- Trial name
- NCT00432822
- Testing
- tetrahydrobiopterin (BH4)
- Volunteers
- 50 people
- Sponsor
- Orphanetics Pharma Entwicklungs GmbH
PKU, Phenylketonurias
Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute
The aim of this study is to demonstrate that a new protein substitute is acceptable and well tolerated in children with PKU.
- Conditions
- PKU, Phenylketonurias, Inborn Errors of Metabolism, Metabolic Disease
- Trial name
- NCT04309331
- Testing
- Motion
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- Dr. Schär AG / SPA
PKU
Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria
The investigators will use different types of brain imaging (MRI) in patients with Phenylketonuria (PKU) who are currently not on a strict diet to test the hypothesis that there is improvement in brain circuitry and biochemistry…
- Trial name
- PKU (NCT01412437)
- Testing
- diet, sapropterin dihydrochloride
- Where
- United States
- Sponsor
- Children's National Research Institute
Phenylketonurias
Nutritional Status in Phenylketonuria
In the era of Phenylketonuria (PKU) newborn screening, early diagnosis in the neonatal period and prompt treatment institution has protected patients from developing severe and irreversible mental retardation.
- Trial name
- TNSPKU (NCT03820804)
- Testing
- Diet, Sapropterin
- Where
- Portugal
- Volunteers
- 94 people
- Sponsor
- Universidade do Porto
Phenylketonurias, PKU
Evaluation of the Express Plus Range
A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM.
- Conditions
- Phenylketonurias, PKU, Homocystinuria, Maple Syrup Urine Disease
- Trial name
- express plus (NCT05051657)
- Testing
- PKU express plus
- Where
- 6 sites in United Kingdom
- Volunteers
- 28 people
- Sponsor
- Vitaflo International, Ltd
Phenylketonurias
Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet
The primary objective of this trial is to evaluate the ability of Phenoptin to increase phenylalanine (phe) tolerance in children with phenylketonuria who are following a phe-restricted diet.
- Trial name
- NCT00272792
- Testing
- Sapropterin Dihydrochloride
- Where
- 9 sites in United States
- Volunteers
- 45 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)
The objective of the study is to determine whether Kuvan™ (sapropterin) improves the strength of the functional connectivity between brain regions in individuals with PKU.
- Trial name
- NCT00964236
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Phenylketonurias, Hyperphenylalaninaemia, Type I
Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia
This study centres around a new one-a-day phenylalanine-free protein substitute for phenylketonuria patients. Fifty eligible adults (≥ 16 years) with proven phenylketonuria or hyperphenylalaninemia will be recruited and randomly…
- Trial name
- NCT03167697
- Testing
- Synergy, Routine
- Where
- 6 sites in United Kingdom
- Volunteers
- 14 people
- Sponsor
- Nutricia UK Ltd
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Phenylketonuria
Protein Requirements in Adults With Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited inborn error of phenylalanine (PHE) metabolism caused by decreased activity of phenylalanine hydroxylase (PAH) enzyme. Therefore, PHE accumulates in plasma leading to mental problems.
- Trial name
- NCT03939052
- Testing
- Free amino acids intake
- Where
- Canada
- Volunteers
- 6 people
- Sponsor
- University of British Columbia
Phenylketonuria
MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria
This is a study about the relationship of brain biomarkers with neuropsychological functioning in PKU. All participants will undergo MRI spectroscopy, will provide a blood specimen and will receive neuropsychological testing.
- Trial name
- NCT03097250
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Phenylketonuria
The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly…
- Trial name
- NCT01917344
- Testing
- MRI
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Boston Children's Hospital
Phenylketonurias
Testing of Four Home Phenylalanine Monitoring Prototype Devices
The objective of this study is to test four home phenylalanine monitoring prototype devices, selected out of a pool of candidates by the National PKU Alliance Scientific Committee.
- Trial name
- NCT02445521
- Where
- 3 sites in United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Emory University
Endothelial Dysfunction
A Phase 2, Pharmacokinetic (PK) Study of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial Dysfunction
This Phase 2, randomized, open-label, 2-treatment, 2-sequence, 2-period crossover, pharmacokinetic (PK) study will compare plasma concentrations of BH4 in subjects with endothelial dysfunction following 14 days of treatment by…
- Trial name
- NCT00532844
- Testing
- Sapropterin Dihydrochloride, Sapropterin Dihydrochloride and Vitamin C
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias, PKU
Evaluation of PKU Sphere in Italy
20 participants with PKU will build-up their dietary intake of PKU sphere over 2-16 weeks, depending on their level of metabolic control whilst doing so.
- Trial name
- NCT04679467
- Testing
- PKU sphere
- Where
- 4 sites in Italy
- Volunteers
- 13 people
- Sponsor
- Vitaflo International, Ltd