Clinical trials: PKU
Phenylketonuria
Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU)
This study is an international, multi-center, randomized, double-blind, placebo-controlled, two-treatment, two-period cross-over study to evaluate the pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral…
- Trial name
- NCT04085666
- Testing
- CDX 6114
- Where
- 2 sites in Australia, Germany
- Volunteers
- 18 people
- Sponsor
- Société des Produits Nestlé (SPN)
Autosomal Recessive Disorder (Genetic Carriers of PKU)
PKU Carriers Trial (Pilot Study): Impact on Cognition, Mental Health, Blood Pressure and Metabolism
This is a clinical intervention pilot/feasibility study of PKU carriers (cases) and non-carriers (controls). Upon completing the informed consent process, participants will complete baseline measures of chronic mental health…
- Trial name
- NCT05958784
- Testing
- L-Phenylalanine
- Where
- Canada
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- University of Guelph
Infant Pain Management, Parent-driven Pain Management
Parents as Pain Management in Swedish Neonatal Care
Parents are a valuable but underused resource in neonatal pain management. In the Nordic countries, family-centred neonatal care has come a long way in welcoming and including parents in the everyday care of their infant.
- Trial name
- NCT04341194
- Testing
- Parent-driven pain management with skin-to-skin contact, Parent-driven pain management with skin-to-skin contact/breastfeeding/parental singing
- Where
- 4 sites in Sweden
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Värmland County Council, Sweden
Pku Phenylketonuria, PAH Deficiency
BH4 Responsiveness in PAH Deficiency PKU Patients
Most forms of Phenylketonuria and hyperphenylalanemia are caused by mutations in the PAH gene (phenylalanine hydroxylase) which is responsible for the conversion of Phe into tyrosine, in the presence of the molecular oxygen and…
- Trial name
- NCT04227080
- Testing
- BH4
- Volunteers
- 40 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
Phenylketonurias
Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited metabolic disorder that impairs the metabolism of the essential amino acid phenylalanine (Phe).
- Trial name
- NCT04404530
- Testing
- Palynziq
- Where
- 2 sites in United States
- Volunteers
- 45 people
- Sponsor
- Emory University
Phenylketonurias
Bone Mineral Density in Adults With Hyperphenylalaninemia
Hyperphenylalaninemia (HPA) is a rare metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). Elevated plasma levels of phenylalanine (phe) cause mental retardation, microcephaly, delayed speech…
- Trial name
- NCT01209819
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- The University of Texas Health Science Center, Houston
Phenylketonuria (PKU) and Hyperphenylalaninemia
Phenylketonuria and Hyperphenylalaninemia Nutrition Study
The mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural protein), and supplementation with a protein substitute (a mixture of amino acids free from phenylalanine, also containing micronutrients and…
- Trial name
- NCT01879995
- Where
- 2 sites in Switzerland
- Volunteers
- 30 people
- Sponsor
- University of Zurich
Phenylketonurias
A 16 Week Study Evaluating the Introduction of a GMP Based Protein Substitute in Participants With PKU
This study aims to measure changes in participants' blood phenylalanine (Phe) levels in participants with PKU when switching from a conventional amino acid based protein substitute to a GMP based protein substitute (PKU Sphere)…
- Trial name
- GMP In PKU (NCT03771391)
- Testing
- PKU Sphere
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- Vitaflo International, Ltd
Esophageal Squamous Cell Carcinoma (ESCC)
Multi-omics Monitoring of Dynamic Evolution in Esophageal Squamous Cell Carcinoma: PKU-ESCC-Monitor
This prospective observational study (PKU-ESCC-Monitor) aims to characterize the dynamic evolution of esophageal squamous cell carcinoma (ESCC) using integrated multi-omics, including tissue genomics, ctDNA, imaging features…
- Trial name
- PKU-ESCC (NCT07152535)
- Volunteers
- 255 people
- Sponsor
- Peking University Cancer Hospital & Institute
Phenylketonurias
Nutrition Status of Adults Treated With Pegvaliase
Conduct a cross-sectional analysis of the nutritional status of individuals with PKU treated with pegvaliase for one or more years or who have followed an unrestricted diet for 6 or more months while on pegvaliase treatment.
- Trial name
- NCT03792451
- Testing
- Pegvaliase
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Boston Children's Hospital
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
Phenylketonurias
Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?
Treatment of PKU implies for most patients that with strict adherence to dietary treatment they can achieve excellent neurocognitive outcome. Dietary treatment, though, is hard to comply to every day and with every single meal.
- Trial name
- PKU_Guide (NCT05128149)
- Testing
- no intervention
- Where
- Switzerland
- Volunteers
- 200 people
- Sponsor
- University Children's Hospital, Zurich
Phenylketonurias
Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase
Conduct a prospective, longitudinal study to evaluate nutritional status in adults with phenylketonuria (PKU) before and during treatment with pegvaliase (Palynziq™).
- Trial name
- NCT03856203
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Boston Children's Hospital
Phenylketonuria
SNAP: Study Nutrients in Adult PKU
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine…
- Trial name
- SNAP (NCT03858101)
- Where
- 4 sites in Belgium, Denmark and 1 more
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Nutricia Research
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
Healthy
Impact of Single Exercise Session Conducted Prior to PKU Type Meal on Appetite Hormones and Energy Intake
The study applied a randomized, crossover design with preliminary (screening) session and two sequenced experimental trials. Trials were marked as Control trial and Exercise trial.
- Trial name
- NCT04302285
- Testing
- PKU type meal and Exercise, PKU type meal
- Where
- United Kingdom
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of Glasgow
Pregnancy, Phenylketonuria
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.
- Trial name
- NCT01659749
- Testing
- Metabolic camp
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Emory University
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)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
Healthy Volunteers
A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine, Rosuvastatin, and Methotrexate When Administered Together
The purpose of this study is to assess the drug-drug interaction (DDI) of repinatrabit with ethinyl estradiol/norethindrone or norethisterone (EE/NE), metformin, rosuvastatin, carbamazepine, and methotrexate in healthy…
- Trial name
- NCT07446400
- Testing
- Repinatrabit, EE/NE, Metformin
- Where
- Australia
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.