Clinical trials: Amino Acid Metabolism
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
Homocystinuria
Effects of Exercise on Metabolic Parameters in Classical Homocystinuria
The aim of this research project is to compare the effect of an aerobic exercise session in two different populations. Sampling biological material and collecting health-related personal data entails minimal risks and burdens.
- Trial name
- NCT04021732
- Where
- 2 sites in Switzerland
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Lausanne
Sepsis Syndrome
Metabolism of Branched-chain Amino Acids in Monocyte/Macrophage During Sepsis
The current project was designed to examine the metabolic level of branched-chain amino acids in plasm and monocyte/macrophage, and its role in immune dysfunction during sepsis.
- Trial name
- NCT03842371
- Testing
- Metabolic level of BCAAs in monocytes and macrophages
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- West China Hospital
Phenylketonuria, Inborn Errors of Metabolism
Evaluation of PKU Explore
To evaluate the acceptability, tolerance and effect on metabolic control of PKU Explore, a renovated Phe free protein substitute for the dietary management of PKU in children from 6 months to 5 years.
- Trial name
- PKU Explore (NCT03168399)
- Testing
- PKU Explore
- Where
- 3 sites in United Kingdom
- Volunteers
- 22 people
- Sponsor
- Vitaflo International, Ltd
Abnormal Renal Function, Malnutrition
Effects of High vs. Standard Protein Intake in Newborn Extreme Premature
Introduction: The preterm newborn of extremely low birth weight (PNELW), endures adverse nutritional conditions to mimic intrauterine growth.
- Trial name
- experimental (NCT02478086)
- Testing
- use amine acids parenteral 3.5g, use amine acids parenteral 4g
- Where
- Mexico
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Coordinación de Investigación en Salud, Mexico
Urea Cycle Disorders
Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs)
This non-randomized, open-label study was approximately one year in duration and consisted of a short term NaPBA to HPN-100 switchover part involving two overnight stays followed by a 12-month long term treatment period involving…
- Trial name
- NCT01347073
- Testing
- HPN-100
- Where
- 8 sites in United States
- Volunteers
- 23 people
- Sponsor
- Amgen
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.
Urea Cycle Disorders, Carbamoylphosphate Synthetase I Deficiency
Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Urea cycle disorders are rare inherited diseases that generally have a poor outcome. In this study, neonates and infants with UCD will be included within the first 3 months of life and will be treated by repetitive application of…
- Conditions
- Urea Cycle Disorders, Carbamoylphosphate Synthetase I Deficiency, Ornithine Transcarbamylase Deficiency, Citrullinemia
- Trial name
- NCT00718627
- Testing
- Human Heterologous Liver Cells
- Where
- 2 sites in Germany
- Volunteers
- 12 people
- Sponsor
- Cytonet GmbH & Co. KG
Hermansky Pudlak Syndrome
A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disease that is associated with oculocutaneous albinism, bleeding, granulomatous colitis, and pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4.
- Trial name
- NCT02368340
- Testing
- Pulmonary function test, Chest CT, Sample collection
- Where
- 5 sites in United States
- Volunteers
- 55 people
- Sponsor
- Vanderbilt University
Tetrahydrobiopterin Deficiencies, Hyperphenylalaninemia, Non-Phenylketonuric
Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
The purpose of this study is to evaluate the ability of Phenoptin to control blood phenylalanine levels in subjects who have hyperphenylalaninemia due to a primary BH4 deficiency and to evaluate the safety of Phenoptin in this…
- Trial name
- NCT00355264
- Testing
- Phenoptin
- Where
- 10 sites in United States, Germany
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
Study of BH4, a New and Simple Treatment of Mild PKU
The main purpose is to test whether treatment with BH4-tablets can replace the protein restrictive diet in patients with mild PKU caused by a certain frequent mutation.
- Trial name
- NCT00260000
- Testing
- 5,6,7,8-tetrahydrobiopterin
- Where
- Denmark
- Volunteers
- 15 people
- Sponsor
- The Kennedy Institute-National Eye Clinic
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxifying of ammonia.
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency (Disorder), Urea Cycle Disorders, Inborn
- Trial name
- NCT06255782
- Testing
- ECUR-506
- Where
- 12 sites in United States, Australia and 2 more
- Volunteers
- 20 people
- Sponsor
- iECURE, Inc.
Hepatic Encephalopathy
Efficacy of L-Ornithine L-Aspartate (LOLA) as an Adjunct to Branched Chain Amino Acids (BCAA) Enriched Solutions on Clinical Outcomes in ICU Patients With Hepatic Encephalopathy
One of the most significant goals of hepatic encephalopathy (HE) treatment is to reduce ammonia levels by lowering its synthesis and enhancing its detoxification which can be achieved by using non-absorbable disaccharides…
- Trial name
- NCT05539027
- Testing
- Branched-chain amino acids (BCAA), enriched solution (Aminoleban) and L-ornithine L-aspartate (LOLA), Branched-chain amino acids (BCAA), enriched solution (Aminoleban)
- Where
- Egypt
- Volunteers
- 140 people
- Sponsor
- Ain Shams University
Healthy, Type 2 Diabetes
Glucagon Suppression by Hyperglycemia in the Presence and Absence of Amino Acid Infusion
This study is being done to better understand how amino acids alter the release of glucagon and insulin compared to glucose alone in health and disease.
- Conditions
- Healthy, Type 2 Diabetes, Obesity
- Trial name
- NCT05264727
- Testing
- Dextrose, Clinisol 15%
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Kwashiorkor
Aromatic Amino Acid Metabolism in the Pathogenesis of Kwashiorkor
This research may explain whether a shortage of three special compounds called aromatic amino acids is responsible for the severe illness and high death rate of children with the kwashiorkor type of malnutrition and whether…
- Trial name
- NCT00429351
- Where
- Jamaica
- Volunteers
- 82 people
- Sponsor
- Baylor College of Medicine
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)
Fluid Retention, Sodium Retention
The Effect of AMP Human Sodium Bicarbonate Lotion on Dehydrated Heat Stress
The primary purpose of the proposed study is to evaluate the effects of a topical sodium bicarbonate lotion (PR Lotion, AMP Human, Park City, UT) on measures of hydration status and fluid balance in humans when exposed to the…
- Conditions
- Fluid Retention, Sodium Retention, Heat Stress, Dehydration (Physiology)
- Trial name
- AMP2 (NCT05092854)
- Testing
- PR Lotion - AMP Human Performance, AminoVital - Rapid Recovery
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University of Connecticut