Clinical trials: Inherited Metabolic Disorders
Lynch Syndrome
Atorvastatin ± Aspirin in Lynch Syndrome Syndrome
The goal of this study is to investigate that a common cholesterol lowering agent (atorvastatin) alone or combining with a nonsteroidal anti-inflammatory drug (aspirin) would reduce the risk of colorectal cancer (CRC) in…
- Trial name
- NCT04379999
- Testing
- Atorvastatin 20mg, Atorvastatin 20mg AND Aspirin 325 mg
- Where
- United States
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Fox Chase Cancer Center
Hereditary Hemochromatosis
A Study to Evaluate BBI-001 in Healthy Volunteers and in Patients With Hereditary Hemochromatosis
This study will be conducted in two parts run in parallel. Part 1 of the study (Phase 1, randomized, double-blind, placebo-controlled, multiple ascending dose) will enroll healthy volunteers in 3 sequential dose escalating…
- Trial name
- NCT07371793
- Testing
- BBI-001
- Where
- Australia
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Bond Biosciences
Cystic Fibrosis
Muscle Accrual and Function in Cystic Fibrosis-Impact of Glucose Intolerance
This study will investigate the link between glucose abnormalities and elements critical to muscle function including mass, composition and energy metabolism.
- Trial name
- NCT02776098
- Where
- 2 sites in United States
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Alzheimer's Disease, Brain Neoplasm
PET Scan of Brain Metabolism in Relation to Age and Disease
The main source of energy for the brain comes from a combination of oxygen and glucose (sugar). For brain cells to function normally they must receive a constant supply of these nutrients.
- Conditions
- Alzheimer's Disease, Brain Neoplasm, Niemann Pick Disease
- Trial name
- NCT00001972
- Testing
- 15 O Water
- Where
- United States
- Volunteers
- 123 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Type 2 Diabetes, Men
PowerUp for Health: A Diabetes Prevention Program for Men
The purpose of this two-year proposal is to: 1. develop and 2. complete a pilot test of an adaptation of the evidence-based National Diabetes Prevention Program (NDPP) tailored to engage men with prediabetes in disadvantaged…
- Trial name
- NCT02555631
- Testing
- lifestyle
- Where
- United States
- Volunteers
- 29 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Familial Hypercholesterolemia
Pilot Study for a National Screening for Familial Hypercholesterolemia
A pilot study to study the feasibility of the screening of familial hypercholesterolemia within the setting of the legal medical visits at primary school.
- Trial name
- EARLIE (NCT05271305)
- Where
- Luxembourg
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier du Luxembourg
Diabetes Mellitus, Gout
Pharmacogenetics of SGLT2 Inhibitors
Sodium-dependent glucose transporter-2 (SGLT2) inhibitors are a new class of anti-diabetic drugs, which increase urinary glucose excretion thereby promoting weight loss and decreasing plasma glucose levels.
- Conditions
- Diabetes Mellitus, Gout, Hyperuricemia
- Trial name
- SGLT2iPGx (NCT02462421)
- Testing
- Canagliflozin
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
Hereditary Tyrosinemia, Type I
Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
The purpose of this study is to compare the bioavailability of the Test Product, Nitisinone 10 mg Tablet, under fasting and fed conditions (food-effect).
- Trial name
- NCT02750332
- Testing
- Nitisinone
- Where
- South Africa
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Sedentary Lifestyle, Dyslipidemias
Effects of Exercise on Fructose-induced Postprandial Lipemia
Cardiovascular Diseases (CVDs) are the leading causes of death in the world and in Brazil. In 2001, 12.45 million deaths on the globe (21% of the total) were caused by some CVD.
- Conditions
- Sedentary Lifestyle, Dyslipidemias, Lipid Metabolism Disorders, Carbohydrate Inducible Hyperlipemia
- Trial name
- NCT03173495
- Testing
- FRUCTOSE, DEXTROSE, EXERCISE
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Federal University of Rio Grande do Sul
Familial Hypercholesterolemia
EAS Familial Hypercholesterolaemia Studies Collaboration
Familial hypercholesterolaemia (FH) is a common genetic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C).
- Trial name
- FHSC (NCT04272697)
- Where
- United Kingdom
- Volunteers
- 75,000 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Cholesterol; Lipidosis
Liver Adiposity Effects on Pediatric Statin
Single center, open-label, prospective investigation to quantify the effects hepatocellular fat has on hepatic statin transport and response in children and adolescents in obese and non-obese children and adolescents 8-21 years…
- Trial name
- NCT04903223
- Testing
- Rosuvastatin 10mg
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Children's Mercy Hospital Kansas City
Uric Acid, Cardiovascular Diseases
Acute Effects of Tart Cherry on Uric Acid and Biomarkers of CVD Risk in Healthy Individuals
This study aims to provide evidence as to whether consumption of tart cherry juice can reduce the risk of gout and cardiovascular disease (CVD) in an acute context.
- Conditions
- Uric Acid, Cardiovascular Diseases, Gout
- Trial name
- NCT04960527
- Testing
- Tart cherry juice, Water
- Where
- United Kingdom
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Sheffield Hallam University
Hypophosphatemia, Familial, Rickets
Hypophosphatemic Rickets in Norway
The purpose of the study is to do a follow-up survey of all individuals with hereditary hypophosphatemia in Norway, focusing on manifestations in childhood and adolescence.
- Conditions
- Hypophosphatemia, Familial, Rickets, Hyperphosphatemia
- Trial name
- NCT01057186
- Testing
- Alfacalcidol; phosphate., Sevelamer
- Where
- Norway
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Haukeland University Hospital
Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst
The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics
The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas
- Trial name
- NCT05692596
- Testing
- Data collection
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
Prader-Willi Syndrome, Constipation
The Intestinal Function in People With Prader-Willi Syndrome
The projects aim is to investigate the intestinal function of patients suffering from Prader-Willi Syndrome. The methods used are ultrasonographic measurement of the rectal diameter and gastrointestinal transit time
- Conditions
- Prader-Willi Syndrome, Constipation, Incontinence
- Trial name
- NCT01523288
- Where
- Denmark
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Aarhus University Hospital
Lysosomal Storage Disorders
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes.
- Trial name
- NCT02000310
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Acute Mountain Sickness, High Altitude
CO2 Supplement for Treatment of Acute Mountain Sickness
It was reported that up to 76% people who rapidly ascend to the altitude higher than 4500 m without sufficient acclimatization will have AMS which often develops 6-8 hours after reaching at high altitude.
- Conditions
- Acute Mountain Sickness, High Altitude, Inhalation; Gas
- Trial name
- NCT06393998
- Testing
- Breathing with CO2 during daytime and night at high altitude, Sleep and doing exercise test under inhalation of air
- Where
- China
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- State Key Laboratory of Respiratory Disease
Digestive Health, Abdominal Discomfort
Study to Investigate the Efficacy of a Digestive Health Dietary Supplement on Post-meal Bloating in Healthy Participants
The goal of this crossover clinical trial is to evaluate the efficacy and safety of Bloat Gummies on postprandial bloating and related gastrointestinal discomfort in healthy adults with recurrent bloating.
- Conditions
- Digestive Health, Abdominal Discomfort, Gas and Bloating
- Trial name
- NCT07516587
- Testing
- Bloat Gummies
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Arrae
Friedreich Ataxia
A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals with Friedreich Ataxia (TRACK-FA)
This is a natural history study prospectively investigating neuroimaging markers of disease progression in children and adults with Friedreich ataxia (FA). There will be three assessment periods (baseline, 12 and 24 months).
- Trial name
- (TRACK-FA) (NCT04349514)
- Testing
- Natural history
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Monash University
Healthy, Men
Metabolic Availability of Lysine From Wheat in Adult Men
Protein is the key determinant of growth and bodily functions. The quality of food proteins depend on their amino acid content and the amount of amino acids used by the body to make proteins.
- Trial name
- NCT03200652
- Testing
- Metabolic availability of lysine in wheat
- Where
- Canada
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
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