Clinical trials: Phenylketonuria (PKU)
Phenylketonurias
AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom)
This is a Phase 1/2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic Phenylketonuria (PKU).
- Trial name
- NCT06332807
- Testing
- NGGT002
- Where
- 5 sites in United States
- Volunteers
- 12 people
- Sponsor
- NGGT INC.
Phenylketonuria, Galactosemia
The Early History of Universal Screening for Metabolic Disorders
We are doing this study to learn more about the early history of universal screening for metabolic disorders such as PKU and galactosemia.
- Conditions
- Phenylketonuria, Galactosemia, Inborn Errors of Metabolism
- Trial name
- NCT00309400
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Miami
Phenylketonuria (PKU)
To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria
This study is a single-arm, open-label, dose-escalation, exploratory study to evaluate the safety, tolerability, and efficacy of a single administration of GS1168 Injection in Chinese adult phenylketonuria (PKU) with PAH mutation.
- Trial name
- NCT07318909
- Testing
- GS1168 injection
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Gritgen Therapeutics Co., Ltd.
Phenylketonuria
Phenylketonuria, Oxidative Stress, and BH4
The purpose of this study is to see how tetrahydrobiopterin therapy (BH4; also known as sapropterin dihydrochloride or Kuvan) affects measures of oxidative stress and endothelial function in patients with Phenylketonuria (PKU).
- Trial name
- NCT01395394
- Testing
- Kuvan, Meal Challenge
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Emory University
Phenylketonuria (PKU) and Hyperphenylalaninemia
PheCheck™ Validation Study
The goal of this observational study is to evaluate the performance of the PheCheck™ test for the rapid detection of phenylalanine (Phe) from a fingerstick sample, in patients 1 year or older with phenylketonuria (PKU) or…
- Trial name
- NCT07551921
- Testing
- PheCheck, Dried Blood Spot Cards.
- Where
- 2 sites in United States
- Volunteers
- 60 people
- Sponsor
- Aptatek BioSciences, Inc
Phenylketonuria, Behavior and Behavior Mechanisms
Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders
This observational study seeks to establish evidence: 1. that physiologic changes, unrelated to effect on the Phenylalanine Hydroxylase (PAH) enzyme, occur in Phenylketonuria (PKU) patients who are treated with sapropterin…
- Conditions
- Phenylketonuria, Behavior and Behavior Mechanisms, PAH Gene Expression
- Trial name
- IST (NCT01274026)
- Testing
- sapropterin dihydrochloride
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Tulane University School of Medicine
Phenylketonuria
Liver Cell Transplant for Phenylketonuria
Human phenylketonuria (PKU) results from phenylalanine hydroxylase (PAH) deficiency, and represents one of the most common and extensively studied single-gene Mendelian disorders in humans.
- Trial name
- NCT01465100
- Testing
- Preparative Radiation Therapy, Hepatocyte Transplant, Immunosuppression
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Ira Fox
Phenylketonuria
Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU)
The purpose of this study is to evaluate the effect of daily administration of rAvPAL-PEG on the reduction of blood Phe concentrations in subjects with PKU.
- Trial name
- NCT01212744
- Testing
- rAvPAL-PEG
- Where
- 9 sites in United States
- Volunteers
- 16 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias
Additional Dietary Large Neutral Amino Acids (LNAA) for Improved Symptoms in Adult Classical Phenylktonuria (PKU)
This research investigates the effects of combining a phenylalanine restricted diet (usual care) with LNAA supplementation (adjuvant LNAA) in well-controlled adults with classical PKU.
- Trial name
- NCT05174559
- Testing
- PreKUnil® LNAA Medical Food for PKU
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of Southern California
Phenylketonuria
The Effect of Supplemental Docosahexaenoic Acid (DHA) on Neurocognitive Outcomes in Teen and Adult Women With Phenylketonuria(PKU)
The purpose of this study is to determine if taking supplemental DHA improves measures of processing speed and executive function in teen and adult women with PKU.
- Trial name
- PKU&DHA (NCT00892554)
- Testing
- Docosahexaenoic Acid, Corn/soy oil
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Emory University
Phenylketonuria, Metabolic Diseases
Evaluation of Capillary Blood Collection Devices (Mitra® and HemaPEN®)
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.
- Trial name
- MitrAlanine (NCT05894122)
- Testing
- DM-DIV MITRA®
- Where
- France
- Volunteers
- 40 people
- Sponsor
- University Hospital, Grenoble
Phenylketonuria
Behavioral Effects of Kuvan in Children With Mild Phenylketonuria
The purpose of this study is to determine whether improvements in behavior occur in children with phenylketonuria (PKU) who are taking Kuvan.
- Trial name
- NCT00827762
- Testing
- Kuvan
- Where
- 4 sites in United States
- Volunteers
- 2 people
- Sponsor
- Washington University School of Medicine
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
Phenylketonurias
Development of Novel Psychological Assessment Tools and Anxiety Intervention for Phenylketonuria
While previous PKU intervention research has largely focused on pharmacological treatment of elevated Phe levels, the adaptation of evidence-based psychosocial therapy holds promise for addressing cognitive and psychological…
- Trial name
- NCT06560736
- Testing
- Show Me FIRST coping skills intervention
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Missouri-Columbia
Phenylketonuria
Sapropterin in Individuals With Phenylketonuria
Investigators at Washington University will examine the effects of sapropterin (Kuvan) on brain and cognition in individuals with phenylketonuria (PKU) using neuropsychological and neuroimaging procedures.
- Trial name
- NCT00730080
- Testing
- Sapropterin (Kuvan)
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Non-Phenylketonuric Hyperphenylalaninemia
Phenylalanine-free Diet for Patients With Secondary Hyperphenylalaninemia in ICU
Hyperphenylalaninemia is not only present in patients with congenital phenylketonuria. In adults with critical illness, hyperphenylalaninemia is noted in some patients and is associated with high mortality rate.
- Trial name
- NCT04896281
- Testing
- Phenylalanine-free milk
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- Chang Gung Memorial Hospital
Phenylketonurias
Compliance, Tolerance and Acceptability of a Tablet Protein Substitute for the Dietary Management of Phenylketonuria
Thirty eligible PKU patients (≥ 8 years), identified as tablet protein substitute users, will be recruited. Patients will firstly observe a 7-day baseline period, in which participants will continue with their existing diet…
- Trial name
- NCT03333720
- Testing
- Phenylalanine-free protein substitute tablets
- Sponsor
- Nutricia UK Ltd
Alcohol Dependence
Stress, Hypothalamic-pituitary-adrenal (HPA) Dysfunction, and Relapse in Alcoholism
This proposal is part of the INIA Stress Consortium. This study will 1. explore the contributions of lifetime trauma, recent stress, and alcohol use on stress-hormone axis disruption in treatment seeking, one-month abstinent…
- Trial name
- NCT00744588
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- University of Texas Southwestern Medical Center
BH4 Deficiency, Hyperphenylalaninemia
A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia
This study has been designed to demonstrate the safety, pharmacokinetics (PK) and preliminary efficacy of PTC923 (CNSA-001) in reducing blood phenylalanine concentrations in participants with hyperphenylalaninemia due to primary…
- Trial name
- NCT03519711
- Testing
- PTC923
- Where
- 4 sites in United States
- Volunteers
- 8 people
- Sponsor
- PTC Therapeutics
Phenylketonurias
Evaluation of Low Phenylalanine Formulas
Ajinomoto Cambrooke has developed a PKU protein substitute that is a proprietary blend of purified Glycomacropeptide (GMP) and essential amino acids, under the brand name Glytactin®.
- Trial name
- NCT06332105
- Testing
- Glytactin, L-AA
- Where
- 2 sites in United Kingdom
- Volunteers
- 19 people
- Sponsor
- Ajinomoto Co., Inc.