Clinical trials: Amino Acid Metabolism
Albinism, Vision Loss
Nitisinone for Type 1B Oculocutaneous Albinism
Background: Oculocutaneous albinism, type 1B (OCA1B) is a genetic disease caused by problems in the gene that makes tyrosine. Tyrosine is an amino acid needed to produce pigment in the skin, hair, and eyes.
- Trial name
- NCT01838655
- Testing
- Nitisinone
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)
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
Phenylketonurias
Short-term Effects of Good Metabolic Control on Cognitive Function, Wellbeing, and Metabolic Parameters in Adult Patients With Phenylketonuria
The goal of this study is to evaluate if in adult patients with phenylketonuria (PKU) without strict metabolic control during the last 12 months, strict metabolic control for 8 weeks results in an improvement of cognitive…
- Trial name
- NCT04210206
- Testing
- PHE-diet
- Where
- Germany
- Volunteers
- 13 people
- Sponsor
- Klaus Parhofer
Nutritional Deficiencies, Phenylketonuria
Follow-up of Adult Phenylketonuria (PKU) Patients
Adult patients with phenylketonuria (PKU) at the age around 40 years belong to the first patients generation with early treatment of the disease.
- Trial name
- NCT01096758
- Where
- Germany
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Ludwig-Maximilians - University of Munich
Homocystinuria
Pegtibatinase as a Treatment for Participants With Classical Homocystinuria (HCU) Receiving Standard of Care Treatment
Researchers are looking for a better way to treat people living with classical homocystinuria (HCU), a rare inherited condition.
- Trial name
- HARMONY (NCT06247085)
- Testing
- Pegtibatinase
- Where
- 52 sites in United States, Australia and 12 more
- Volunteers
- 70 people
- Sponsor
- Travere Therapeutics, Inc.
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.
Glucose Metabolism, Amino Acid Metabolism
Evaluation of Biomarkers for Predicting Macronutrient Intake
The goal of this clinical trial is to establish the relationship between macronutrient food intake and the resulting blood and intersticial fluid (ISF )levels of small molecule markers, as well as, validate wearable optical…
- Trial name
- Microdialysis (NCT06582381)
- Testing
- Meal set A, Meal set B, Meal set C
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Texas A&M University
Phenylketonuria (PKU)
Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria
This is a Phase 3 open-label randomized controlled study enrolling approximately 54 adolescents with PKU. The study is designed to assess the safety and efficacy of pegvaliase injections.
- Trial name
- PEGASUS (NCT05270837)
- Testing
- Pegvaliase, Diet Only
- Where
- 16 sites in United States, Germany
- Volunteers
- 55 people
- Sponsor
- BioMarin Pharmaceutical
Vaccine Adverse Reaction, Post Acute Covid-19 Vaccination Syndrome
Effect of Metabolic Modulation on a Post-acute COVID-19 Vaccination Syndrome (PACVS) Cohort
The goal of this clinical trial is to evaluate whether metabolic modulation with a combined nutraceutical product can improve symptoms and metabolic health in adults diagnosed with post-acute Covid-19 vaccination syndrome…
- Trial name
- ViTAL-SCAN19 (NCT06967428)
- Testing
- Combined metabolic modulator, Rice Protein Powder with Vitamin C
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Independent Medical Alliance
Chronic Renal Failure, Mechanistic Effects of SGLT2 Inhibition and/ or MR Antagonism on Body Fluid and Electrolyte Homeostatis
A Study to Investigate the Mechanistic Effects of Dapagliflozin Alone or in Combination With Balcinrenone, Compared to Balcinrenone and Placebo on Body Fluid and Electrolyte Handling and Energy Metabolism in Participants Over 50 Years of Age With Chronic Kidney Disease.
The purpose of this study is to investigate the mechanistic effects of dapagliflozin 10 mg, alone or in combination with balcinrenone 150 mg, with balcinrenone 150 mg and placebo, on the way the body handles electrolytes and…
- Conditions
- Chronic Renal Failure, Mechanistic Effects of SGLT2 Inhibition and/ or MR Antagonism on Body Fluid and Electrolyte Homeostatis, Chronic Kidney Disease Stage 3, Electrolyte and Fluid Balance Conditions
- Trial name
- DapaBalci-Leap (NCT05884866)
- Testing
- Dapagliflozin 10mg Tab, Balcinrenone 50mg Capsule, Balcinrenone 100mg Capsule
- Where
- 2 sites in France, Germany
- Volunteers
- 103 people
- Sponsor
- Klinikum Nürnberg
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
Hyperhomocysteinemia, Thrombotic, Cbs-Related, Ischemic Stroke
Methylenetetrahydrofolate Reductase Deficiency in Ischemic Stroke
Adult onset epileptic seizures is rare and often associated with metabolic disorders, drugs and intracranial pathologies such as ischemia, hemorrhage or space-occupying lesions.
- Conditions
- Hyperhomocysteinemia, Thrombotic, Cbs-Related, Ischemic Stroke, Epilepsy
- Trial name
- NCT04287881
- Testing
- Methylenetetrahydrofolate reductase (MTHFR) deficiency
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 32 people
- Sponsor
- Istanbul Medeniyet University
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
PKU, Phenylketonurias
Market Research - Acceptability Study for a New PKU 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
- NCT04318509
- Testing
- GMPOWER
- Where
- 2 sites in United Kingdom
- Volunteers
- 8 people
- Sponsor
- Dr. Schär AG / SPA
Endothelial Dysfunction, Hyperhomocysteinemia
Effects of Oral Supplementation With Creatine on Systemic Microvascular Endothelial Function in Vegetarian Individuals
The present study aims at investigating the effects of the oral supplementation with creatine on the systemic microvascular reactivity and plasma levels of homocysteine in vegetarian individuals of the vegan type.
- Trial name
- NCT02961972
- Testing
- monohydrate and micronized creatine
- Where
- Brazil
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- National Institute of Cardiology, Laranjeiras, Brazil
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
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
Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
This is a Phase 3b, multicenter, open-label, randomized, controlled study to evaluate efficacy, safety and population pharmacokinetics of sapropterin dihydrochloride (Kuvan®) in less than 4 year-old infants and children with…
- Trial name
- SPARK (NCT01376908)
- Testing
- Kuvan®, Phenylalanine (Phe)-restricted diet
- Where
- 22 sites in Austria, Belgium and 7 more
- Volunteers
- 56 people
- Sponsor
- BioMarin Pharmaceutical
Idiopathic Ketotic Hypoglycemia
A Glucometabolic Evaluation of Patients With Idiopathic Ketotic Hypoglycemia
The project will evaluate 1) the postprandial metabolism and 2) continuous glucose levels in subjects diagnosed with Idiopathic Ketotic Hypoglycemia (IKH)) and healthy control subjects.
- Trial name
- IKH_MetEx (NCT05310292)
- Testing
- Oral glucose tolerance test, Mixed meal test
- Where
- Denmark
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University Hospital, Gentofte, Copenhagen
Lowe Syndrome
An Open-label, Phase 2 Pilot Study on the Efficacy and Safety of Piclidenoson in Patients With Lowe Syndrome
The primary objective of this trial is to: 1. Evaluate the efficacy of piclidenoson to increase renal uptake of 99mTc-labeled DMSA, in comparison to baseline, after 6 months (26 weeks) of treatment as a measure the reabsorption…
- Trial name
- NCT07410455
- Testing
- Piclidenoson
- Where
- Italy
- Volunteers
- 5 people
- Sponsor
- Can-Fite BioPharma