Clinical trials: Inborn Errors of Metabolism Disorders
Mucopolysaccharidoses
Validation and Reliability of Iris Cameras in Mucopolysaccharidoses
To assess the reliablity and validity of 2 new iris cameras in the assement of corneal opacification in mucopolysaccharidoses
- Trial name
- NCT05354219
- Testing
- Imaging
- Where
- United Kingdom
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Manchester University NHS Foundation Trust
Healthy, Fasting
The Food Effect on Pharmacokinetics of Fixed Dose Combination of Gemigliptin/Dapagliflozin/Metformin in Healthy Volunteers
This is a single dose, randomized, open-label, two-way crossover study to investigate the food-effect bioavailability of the fixed-dose combination of Gemigliptin/Dapagliflozin/Metformin 50/10/1000 mg in healthy volunteers under…
- Conditions
- Healthy, Fasting, Fed
- Trial name
- NCT07396844
- Testing
- Fixed-dose combination of gemigliptin/dapagliflozin/metformin 50/10/1000 mg
- Where
- Thailand
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- LG Chem
Fasting, Fed
Development of the Leeds Food Preference Questionnaire in Spanish
The Leeds Food Preference Questionnaire (LFPQ) is a computer-based task used to measure reward responses and preferences for images of food.
- Trial name
- ES-LFPQ (NCT05837572)
- Testing
- Standardized meal
- Where
- Spain
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Universidad de Granada
Phenylketonuria (PKU)
The Psychosocial Functioning of Adults With Phenylketonuria.
Current recommendations are to maintain Phe levels < 360 µmol/L throughout life (US consensus) or < 600 µmol/L from the age of 12 (European consensus).
- Trial name
- CoMet-PCU (NCT07406009)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Lactose Intolerance
Does Daily Supplementation of Lactobacillus Acidophilus MPH734, for One Week, Affect Acute (Immediate), Subacute (7 Days), and Post-treatment Discontinuation Lactose Metabolism, Gastrointestinal Symptoms, and Clinical Markers of Inflammation and Safety Compared to a Placebo
The purpose of this study is to determine if twice or three times daily supplementation of Lactobacillus acidophilus MPH734 (Lacto-FreedomTM, or LF), for one week, affects acute (immediate), subacute (7 days), and post-treatment…
- Trial name
- LF (NCT04531033)
- Testing
- Lactobacillus acidophilus MPH734
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Lemuel W. Taylor IV
Gaucher Disease
A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers
The purpose of this study is to assess the safety, tolerability, and pharmacokinetics of single dosing study with three ascending dose cohorts of ISU302 in healthy subjects.
- Trial name
- NCT01881633
- Testing
- ISU302
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- ISU Abxis Co., Ltd.
Classic Galactosemia
Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia
This study is a first-in-human, randomized, placebo-controlled, 4-Part, single ascending dose (SAD) and multiple ascending dose (MAD) study in healthy adult subjects and adult subjects with Classic Galactosemia.
- Trial name
- NCT04117711
- Testing
- AT-007
- Where
- 4 sites in United States
- Volunteers
- 114 people, healthy volunteers welcome
- Sponsor
- Applied Therapeutics, Inc.
Hypoparathyroidism, Pseudo Hypoparathyroidism
QoL and Cognitive Function in Patients With Hypoparathyroidism
Hypoparathyroidism (HypoPT) is a disease with inadequate production of parathyroid hormone (PTH) from the parathyroid glands leading to hypocalcemia.
- Trial name
- MR-hypoPT (NCT04569604)
- Testing
- MRI scans, Neuro cognitive tests, Questionnaires on Quality of Life
- Where
- Denmark
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Lipoprotein Lipase Deficiency
Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency
Lipoprotein lipase (LPL) is an enzyme that plays an important role in removing triglycerides (TG) (molecules that transport dietary fat) from the blood.
- Trial name
- AGL12 (NCT04227678)
- Testing
- Heparin, liquid meal
- Where
- Canada
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Université de Sherbrooke
Congenital Adrenal Hyperplasia
Effects and Importance of Epinephrine/Adrenalin Deficiency in CAH
Individuals with CAH produce lower levels of epinephrine (adrenalin) than controls. This can be correlated to the CYP21A2 genotype and is most pronounced in the classic forms.
- Trial name
- NCT05162950
- Testing
- physical exercise as a standardized high intensity exercise test, Stress vulnerability
- Where
- Sweden
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Region Stockholm
G6PD Deficiency
Evaluation of a Diagnostic to Identify Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in Brazil
Th objectives of this study are: To determine the performance of G6PD tests in detecting G6PD activity and hemoglobin (Hb) compared to a reference assay To assess the comprehension of the G6PD test packaging and labelling among…
- Trial name
- NCT04033640
- Testing
- SD Biosensor STANDARD G6PD Test, Pointe Scientific Test Kit, HemoCue System
- Where
- 2 sites in Brazil
- Volunteers
- 1,754 people, healthy volunteers welcome
- Sponsor
- PATH
Oxalate, Primary Hyperoxaluria, Microbiome
Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients
To characterize the microbiome in 4 groups of subjects (primary hyperoxaluria type I (PH1), idiopathic CaOx stone, enteric hyperoxaluria (EH) and healthy participants) by comparing the number of species and diversity of the…
- Trial name
- NCT02794649
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- VA New York Harbor Healthcare System
Lactose Intolerance
A Bifido Bacteria to Improve Lactose Digestion and Tolerance
We want to determine if feeding a bifido bacteria that readily digests lactose and galactooligosacharides improves lactose digestion and tolerance through alteration of the microbiome.
- Trial name
- NCT05668468
- Testing
- Bifidobacterium adolescentis IVS-1 capsule
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Purdue University
Fed
Bioequivalence Study of Olanzapine Orally Disintegrating Tablets, 5 mg Under Fed Condition
The purpose of this study is to compare the single oral dose bioequivalence of olanzapine 5 mg OD tablets with Zyprexa Zydis 5 mg tablets under fed conditions and to monitor adverse events and ensure safety of subjects.
- Trial name
- NCT01503450
- Testing
- Olanzapine OD Tablets 5 mg
- Where
- India
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
G6PD Deficiency, Carbohydrate Metabolism Disorder
Oxidative Stress, Carbohydrate Metabolism Disorders and G6PD Deficiency
The purpose of this study is to investigate the effects of alpha-lipoic acid supplementation on redox status, physiological and biochemical parameters in diabetic individuals with G6PD deficiency, after acute exercise.
- Conditions
- G6PD Deficiency, Carbohydrate Metabolism Disorder, Oxidative Stress
- Trial name
- NCT05571748
- Testing
- Alpha-lipoic acid
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Thessaly
Urea Cycle Disorder
Manipulating the Gut Microbiome Study
The objective is to determine if acetohydroxamic acid (AHA) can prevent hydrolysis of urea by inhibiting the bacterial urease of gut flora of both healthy control adults as well as adults with urea cycle disorders
- Trial name
- NCT03181828
- Testing
- Acetohydroxamic Acid Oral Tablet, No treatment
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Nicholas Ah Mew
Cardiac Amyloidosis
Screening Algorithm for Early Detection of Occult Cardiac Amyloidosis
Early diagnosis of cardiac amyloidosis (CA) is crucial because of the poor overall survival, high mortality and the need for early therapy including new treatment possibilities for transthyretin amyloidosis.
- Trial name
- EARLY-CA (NCT05693376)
- Where
- Germany
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- University Hospital, Essen
Fed
Bioequivalence Study of Olanzapine Tablets, 5 mg Under Fed Study
The purpose of this study is to compare the bioequivalence and characterize the profile of the olanzapine tablets, 5 mg with zyprexa tablets, 5 mg in healthy, adult, human subjects under fed conditions and to monitor the adverse…
- Trial name
- NCT01503424
- Testing
- Olanzapine
- Where
- India
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
Mucopolysaccharidosis (MPS)
Physical Activity Intervention for MPS
Currently, treatments for mucopolysaccharidoses (MPS) are pharmacological and predominantly focus on the physical symptoms of the disease.
- Trial name
- NCT07449143
- Testing
- Interviews/focus groups/participatory workshops
- Where
- United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Brunel University
Citrullinemia
Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
The urea cycle consists of a series of chemical reactions through which the body converts toxic waste- nitrogen into a substance called urea that can be disposed of easily.
- Trial name
- NOASSD (NCT01610089)
- Testing
- stable isotope infusion
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine