Clinical trials: Phenylketonurias
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
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
Phenylketonuria
The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria
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
- NCT02297347
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Phenylketonurias
Open-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on Daily PHE Fluctuation of PKU GOLIKE Versus SoC in Patients With PKU.
This is an open-label, randomized, 2-way crossover, monocentric controlled study in patients (≥ 16 years old) with phenylketonuria (PKU).
- Trial name
- NCT05827536
- Testing
- PKU GOLIKE, Standard of Care
- Where
- Italy
- Volunteers
- 21 people
- Sponsor
- APR Applied Pharma Research s.a.
Phenylketonuria
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
The main purpose of this trial is to evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with PKU when treatment is initiated in early childhood.
- Trial name
- EPIPHENY (NCT06302348)
- Testing
- Sepiapterin
- Where
- 14 sites in United States, Australia and 5 more
- Volunteers
- 56 people
- Sponsor
- PTC Therapeutics
Phenylketonuria
Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria
Patients with phenylketonuria (PKU) have an inborn error in the metabolism of the amino acid phenylalanine (Phe) and thus must follow a strictly controlled protein-restricted diet from early infancy.
- Trial name
- NCT00909012
- Testing
- high oleic sunflower oil, microalgal oil
- Where
- 6 sites in Germany, Italy and 2 more
- Volunteers
- 114 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Phenylketonuria (PKU)
A Clinical Study on the Safety and Tolerability of PL54 Injection in Adult Patients With Phenylketonuria (PKU)
The primary objective of this clinical trial is to evaluate the safety and tolerability of single and multiple administrations of PL54 in patients aged 18-55 years.
- Trial name
- NCT07672756
- Testing
- PL54
- Where
- China
- Volunteers
- 48 people
- Sponsor
- Chongqing Peg-Bio Biopharm Co., Ltd.
Phenylketonuria, Healthy
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 is evaluating SYNB1618 in healthy volunteers (HV) and subjects diagnosed with phenylketonuria (PKU)…
- Trial name
- PKU (NCT03516487)
- Testing
- SYNB1618
- Where
- 4 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Synlogic
Phenylketonuria, Endothelial Dysfunction
Observational Study of Endothelial Dysfunction in Phenylketonuria
The purpose of this study is to determine whether adolescent and adult patients with phenylketonuria who are on long-term phenylalanine-restricted diet suffer from endothelial dysfunction.
- Trial name
- NCT02176603
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Charite University, Berlin, Germany
Phenylketonuria
Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria
The purpose of this study is to assess the safety and tolerability of injections of rAvPAL-PEG in subjects with PKU.
- Trial name
- NCT00634660
- Testing
- rAvPAL-PEG
- Where
- 8 sites in United States
- Volunteers
- 25 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias
Evaluation of PKU Sphere Liquid
PKU Sphere Liquid is a prospective, open-label, acceptability study to evaluate PKU sphere liquid in up to 15 participants aged 3 and above for the dietary management of PKU over 31 days.
- Trial name
- NCT05096988
- Testing
- PKU sphere liquid
- Where
- 3 sites in United Kingdom
- Volunteers
- 19 people
- Sponsor
- Vitaflo International, Ltd
Phenylketonuria
Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare genetic condition. If not treated, PKU can cause severe mental retardation. Women with PKU are advised to eat a special diet when pregnant to prevent mental retardation in their children.
- Trial name
- NCT00065299
- Testing
- Restricted phenylalanine diet
- Where
- 3 sites in United States
- Volunteers
- 572 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
Phenylketonuria
Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria
For individuals with Phenylketonuria (PKU), the investigators hypothesize that glycomacropeptide will provide an acceptable form of low-phenylalanine dietary protein that will improve dietary compliance, blood phenylalanine…
- Trial name
- PKU (NCT01428258)
- Testing
- GMP Diet/GMP Medical Foods, AA Diet/AA Medical Foods
- Where
- 2 sites in United States
- Volunteers
- 32 people
- Sponsor
- University of Wisconsin, Madison
Phenylketonuria (PKU)
Prevalence and Determinants of Obesity in PKU Patients
This observational cross-sectional multicenter study aims to assess the prevalence of overweight and obesity in adult patients with phenylketonuria (PKU) and to identify associated risk factors.
- Trial name
- NCT07703020
- Where
- Switzerland
- Volunteers
- 100 people
- Sponsor
- Christel Tran
Phenylketonuria (PKU)
Effects of Kuvan on Melatonin Secretion
This study examines the effect of tetrahydrobiopterin (Kuvan) and Large Neutral Amino Acid (LNAA) therapy on melatonin and dopamine levels in individuals with Phenylketonuria (PKU).
- Trial name
- NCT01617070
- Testing
- Kuvan, Large Neutral Amino Acid Therapy
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of Southern California
Phenylketonuria, Hyperphenylalaninaemia
PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
The objective of this study is to evaluate the safety of long-term treatment with Kuvan.
- Trial name
- PKUDOS (NCT00778206)
- Testing
- Kuvan
- Where
- 45 sites in United States
- Volunteers
- 1,887 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias, Nutritional and Metabolic Diseases
Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients
Phenylketonuria is a rare metabolic disease that results from the absence or near-absence activity of the enzyme phenylalanine hydroxylase, which metabolizes the amino acid phenylalanine to tyrosine in the body.
- Trial name
- NCT04969809
- Testing
- Ultrasound of the jugular veins, addition of phenylalanine-free protein substitutes
- Volunteers
- 50 people
- Sponsor
- University Medical Centre Ljubljana
Phenylketonuria
The Effectiveness of Kuvan in Amish PKU Patients
The purpose of this study is to determine if Amish patients with PKU show responsiveness after a high dose, prolonged Saproterin trial.
- Trial name
- NCT02677870
- Testing
- saproterin dihydrochloride, Diet treatment
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- University Hospitals Cleveland Medical Center
Psychological Well-Being, Caregiver Burden
The Struggle That Is Phenylketonuria : What Do The Patients and Caregivers Suffer From
Objective: To assess the stress levels and life hardships of phenylketonuria patients and their parents.
- Conditions
- Psychological Well-Being, Caregiver Burden, Life Stress
- Trial name
- NCT06280261
- Testing
- parenting stress index, Zarit burden scale, Rosenberg self esteem scale, stait trait anxiety inventory, struggles and difficulties questionnaire
- Where
- Turkey (Türkiye)
- Volunteers
- 156 people
- Sponsor
- Hacettepe University