Clinical trials: Amino Acid Metabolism
Hyperhomocysteinemia
Effect of S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine
The purpose of this study is to investigate whether S-adenosylmethionine (SAMe), a natural substance available as a nutritional supplement, can influence blood levels of homocysteine (Hcy).
- Trial name
- NCT00473200
- Testing
- S-adenosylmethionine
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Baylor Research Institute
Phenylketonuria
Nutritional and Neurotransmitter Changes in PKU Subjects on BH4
HYPOTHESIS: The investigators hypothesize that KuvanTM therapy could influence nutritional and body composition parameters and neurotransmitter concentrations in pediatric and adult PKU subjects.
- Trial name
- BH4&PKU (NCT00688844)
- Testing
- KuvanTM Therapy
- Where
- 2 sites in United States
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Emory University
Healthy
The Impact of Protein Intake on Protein Metabolism During Intensified Training
Protein requirements in individuals who participate in endurance-based exercise training have been suggested to be greater than the current recommended dietary allowance (RDA).
- Trial name
- NCT02801344
- Testing
- Normal, Moderate, High
- Where
- Canada
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Toronto
Phenylketonuria, Maternal
A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding
This is a Phase 4 observational study designed to assess the impact of Palynziq ® (pegvaliase) treatment in pregnant women with PKU and on their offspring who were exposed to pegvaliase at any time during pregnancy and…
- Trial name
- PALomino (NCT05579548)
- Testing
- Pegvaliase
- Where
- 4 sites in United States, Canada and 2 more
- Volunteers
- 50 people
- Sponsor
- BioMarin Pharmaceutical
Weight Loss, Obesity
The Effect of Branched-Chain Amino Acid Supplementation and Exercise on Body Composition During Energy Restriction
This double blind placebo study will take place over an 8 week treatment period of diet and exercise. All participants (n=16), in two groups, will be placed on the same hypocaloric diet and exercise program.
- Trial name
- NCT02630238
- Testing
- Branched-Chain Amino Acid Supplementation, Exercise, Diet
- Where
- Canada
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of Western Ontario, Canada
Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
Liver Disease in Urea Cycle Disorders
This is a multi-center, cross-sectional study to assess risk for liver fibrosis and hepatic injury in individuals with urea cycle disorders (UCDs) using serum biomarkers, Fibroscan, and MRE.
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency
- Trial name
- NCT04612764
- Where
- 5 sites in United States
- Volunteers
- 62 people
- Sponsor
- Baylor College of Medicine
Type 2 Diabetes, Metabolic Syndrome
Protein, Amino Acids & Insulin & Glucagon Secretion in Humans
The purpose of this study is to determine the effect of various foods and/or food substances such as fats or proteins on the blood glucose and insulin concentrations in people with and without type 2 diabetes.
- Trial name
- NCT01471509
- Testing
- water, glucose with or without amino acid
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Minneapolis Veterans Affairs Medical Center
Hermansky Pudlak Syndrome, Interstitial Lung Disease
Efficacy and Safety of Pirfenidone Treatment in HPS-ILD
This research study will explore the safety and efficacy of the drug, pirfenidone, in patients with a diagnosis of Hermansky-Pudlak Syndrome (HPS) who have an associated interstitial lung disease (ILD) over a planned period of 56…
- Trial name
- PEARL (NCT04193592)
- Testing
- Pirfenidone
- Where
- 2 sites in United States, Puerto Rico
- Volunteers
- 50 people
- Sponsor
- Jesse Roman
Classical Phenylketonuria(PKU)
The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKU
This study is an independent sub-study of the protocol titled PKU-016: A double-blind, placebo-controlled, randomized study to evaluate the safety and therapeutic effects of sapropterin dihydrochloride on neuro-psychiatric…
- Trial name
- NCT01650909
- Sponsor
- Stanford University
Essential Hypertension
Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine
To evaluate the efficacy of Amlodipine-folic Acid Tablets on reduction of blood pressure and plasma homocystein.
- Trial name
- NCT01848873
- Testing
- Amlodipine, amlodipine-FA tablet, low dose group, amlodipine-FA tablet ,high dose group
- Where
- 16 sites in China
- Volunteers
- 756 people
- Sponsor
- Shenzhen Ausa Pharmed Co.,Ltd
Healthy Volunteers, Propionic Acidemia
A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia
The purpose of this study is to assess the safety, tolerability, PK and PD of BBP-671 in healthy volunteers and patients with Propionic Acidemia or Methylmalonic Acidemia.
- Conditions
- Healthy Volunteers, Propionic Acidemia, Methylmalonic Acidemia, Organic Acidemia
- Trial name
- NCT04836494
- Testing
- BBP-671
- Where
- 3 sites in United States
- Volunteers
- 79 people, healthy volunteers welcome
- Sponsor
- CoA Therapeutics, Inc., a BridgeBio company
Phenylketonuria
A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria
The main purpose of this study is to evaluate the long-term safety of PTC923 in participants with phenylketonuria, and to evaluate the changes from baseline in dietary phenylalanine (Phe)/protein consumption.
- Trial name
- NCT05166161
- Testing
- PTC923
- Where
- 46 sites in United States, Australia and 17 more
- Volunteers
- 247 people
- Sponsor
- PTC Therapeutics
Hermanski-Pudlak Syndrome, Colitis
Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome
This study will determine if medical treatment of colitis (inflammation of the colon resulting in loose bowel movements, rectal bleeding, and belly pain) that is used for other colitis conditions, such as Crohn's disease and…
- Conditions
- Hermanski-Pudlak Syndrome, Colitis, Cytokines, Lymphocytes
- Trial name
- NCT00514982
- Testing
- Mesalamine, Infliximab, Corticosteroids
- Where
- United States
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Pulmonary Fibrosis, Healthy Volunteers
Analysis of Specimens From Individuals With Pulmonary Fibrosis
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination…
- Conditions
- Pulmonary Fibrosis, Healthy Volunteers, Hermansky-Pudlak Syndrome (HPS)
- Trial name
- NCT00084305
- Where
- United States
- Volunteers
- 315 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Urea Cycle Disorders
Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002)
The aim of the study is to assess the efficacy of HepaStem treatment in paediatric patients suffering from urea cycle disorders.
- Trial name
- NCT02489292
- Testing
- HepaStem
- Where
- 6 sites in Belgium, France and 2 more
- Volunteers
- 5 people
- Sponsor
- Cellaion SA
Phenylketonurias
Remote Neurocognitive and Psychological Assessment in PKU
PKU is a rare autosomal recessive condition associated with disruption in dopamine synthesis. Although early diagnosis and treatment prevent the severe impairments associated with untreated PKU, individuals with early-treated PKU…
- Trial name
- NCT04943393
- Testing
- nointervention
- Where
- 2 sites in United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)
Long-term Efficacy of Carglumic Acid in Organic Acidemia.
Evaluate the Long Term Effectiveness \& Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
- Trial name
- NCT04284917
- Testing
- Carglumic Acid (Carbaglu®)
- Where
- Taiwan
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
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.
Urea Cycle Disorders
Study of the Safety of HPN (Hyperion)-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD)
This was a long-term safety study HPN-100 in urea cycle disorder (UCD) subjects. Subjects were assessed regularly for safety and control of their venous ammonia.
- Trial name
- NCT00947297
- Testing
- HPN-100
- Where
- 22 sites in United States, Canada
- Volunteers
- 60 people
- Sponsor
- Amgen
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health