Clinical trials: Metabolism, Inborn Errors
Esophageal Cancer
Outside the Cage (OTC) Robotic Esophagectomy
The goal of this clinical trial is to evaluate the feasibility and safety of a novel non-intercostal robotic approach for minimally invasive esophagectomy (OTC MIE) in the treatment of esophageal cancer.
- Trial name
- NCT06735638
- Testing
- OTC MIE Esophagectomy
- Where
- Canada
- Volunteers
- 31 people
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)
Familial Hypercholesterolemia
Improving Diagnosis and Clinical Management of Familial Hypercholesterolemia Through Integrated Machine Learning, Implementation Science, and Behavioral Economics
The goal of this study is to identify individuals at high risk of FH, and to encourage the appropriate diagnosis and treatment of individuals at high risk of FH through the use of implementation science and behavioral economics…
- Trial name
- BEAT FH (NCT05746247)
- Testing
- Testing centralized referral mechanism for PCPs, Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation
- Where
- United States
- Volunteers
- 610 people
- Sponsor
- University of Pennsylvania
Gout
PREventative Study Against URate-Lowering Drug-Induced Gout Exacerbations (PRE-SURGE 2)
The purpose of this clinical research study was to determine the safety and effectiveness of an experimental drug called rilonacept in participants with gout who are beginning allopurinol treatment for gout.
- Trial name
- NCT00958438
- Testing
- Rilonacept
- Where
- 61 sites in Germany, India and 3 more
- Volunteers
- 248 people
- Sponsor
- Regeneron Pharmaceuticals
Familial Hypercholesterolaemia
The Spanish Familial Hypercholesterolaemia Cohort Study
SAFEHEART is a large, on-going registry study in molecularly defined patients with heterozygous FH treated in Spain.
- Trial name
- SAFEHEART (NCT02693548)
- Where
- Spain
- Volunteers
- 4,141 people, healthy volunteers welcome
- Sponsor
- Fundación Hipercolesterolemia Familiar
Fabry Disease
Impact of MIgalastat TheRApy on CaRdiac Function in patiEnts With Fabry's Cardiomyopathy (MIRACRE-Fabry Trial)
This is an observational study. No treatment or intervention will be assigned to the subjects. All patients will receive full standard of care concomitant medication for the treatment of their cardiac condition.
- Trial name
- NCT04639999
- Testing
- Echocardiography
- Where
- South Korea
- Volunteers
- 20 people
- Sponsor
- Yonsei University
Lipid Metabolism, Inborn Errors, Heart Disease
An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED)
This is a 6-month study with patients who have the rare disease, sitosterolemia which may result in heart-related diseases. These patients have unusually high absorption of non-cholesterol sterols, resulting in heart-related…
- Trial name
- NCT00092898
- Testing
- MK0653, ezetimibe
- Volunteers
- 30 people
- Sponsor
- Organon and Co
Diabetes Mellitus, Sarcoidosis
Salivary Proteins in Disease and Health
This study will examine saliva samples from healthy volunteers and patients with various diseases to learn more about how disease affects the mouth and salivary glands.
- Conditions
- Diabetes Mellitus, Sarcoidosis, Dental Caries, Sjorgren's Syndrome
- Trial name
- NCT00100204
- Where
- United States
- Volunteers
- 264 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Acidosis, Renal Tubular
Extension Study in Primary Distal Renal Tubular Acidosis
Open-label study involving longitudinal assessment of the continued safety, tolerability, and efficacy of ADV7103 in maintaining targeted serum bicarbonate levels, preventing metabolic acidosis, and preventing hypokalemia in the…
- Trial name
- NCT03831152
- Testing
- ADV7103
- Where
- United States
- Sponsor
- Advicenne Pharma
Cardiac Amyloidosis
Mitochondrial Function in Transthyretin Amyloidosis
Hereditary (familial) amyloidosis arising from the misfolding of a mutated or variant transthyretin, is the most frequent form of amyloid cardiomyopathy in the Caribbean basin.
- Trial name
- MIT-Amylose (NCT03328338)
- Where
- Martinique
- Volunteers
- 12 people
- Sponsor
- University Hospital Center of Martinique
Glycogen Storage Disease, GSD Type 0A
Rare Glycogen Storage Diseases Natural History Study
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon…
- Conditions
- Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII
- Trial name
- NCT06795152
- Testing
- No intervention
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Phenylketonuria
Effect of Different Meal Types Given Before Exercise on Plasma Amino Acid Levels and Metabolic Control Parameters in Classical Phenylketonuria Patients Undergoing Aerobic and Resistance Exercises
This study will be the first in the literature to evaluate the relationship between aerobic and resistance exercises, plasma amino acid levels, metabolic control of patients, and the metabolic response to exercise with different…
- Trial name
- NCT07526909
- Testing
- Aerobic Exercise, Resistance Exercise, Water
- Where
- Turkey (Türkiye)
- Volunteers
- 10 people
- Sponsor
- Hacettepe University
Amyloidosis Cardiac, Stenosis Coronary
Non-Interventional Study on the Prevalence of Cardiac Amyloidosis in Patients With Higher-Grade Aortic Valve Stenosis - Evaluation Using Echocardiography, Computed Tomography, Tc99-SPECT/CT and Cardiac Magnetic Resonance Imaging (CMR)
Degenerative aortic stenosis (AS) is frequently accompanied by left ventricular hypertrophy and diastolic dysfunction, features that overlap with transthyretin (ATTR) cardiac amyloidosis.
- Conditions
- Amyloidosis Cardiac, Stenosis Coronary, TAVI(Transcatheter Aortic Valve Implantation)
- Trial name
- NIS-TAVI-AMY (NCT07752732)
- Where
- Germany
- Volunteers
- 600 people
- Sponsor
- University Hospital Tuebingen
Hunter Syndrome
Intensive Pharmacovigilance Program for Elaprase (SHP ELA-701)
The purpose of this non-interventional, observational study which is conducted in Mexico is to evaluate the safety profile of elaprase (idulsurfase) in participants with hunter syndrome (mucopolysaccharydosis II) being treated…
- Trial name
- NCT03582449
- Where
- 6 sites in Mexico
- Volunteers
- 5 people
- Sponsor
- Shire
Cystinosis
PK and PD Study of NPI-001 and Cysteamine Bitartrate
Safety, pharmacokinetics, and pharmacodynamics of NPI-001 oral solution in cystinosis patients compared with cysteamine.
- Trial name
- INCA (NCT05994534)
- Testing
- Cysteamine Bitartrate, N-Acetylcysteine Amide
- Where
- Australia
- Volunteers
- 8 people
- Sponsor
- Nacuity Pharmaceuticals, Inc.
Metachromatic Leukodystrophy (MLD)
A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy
The main aim of the study is to determine if SHP611 given by injection into the spinal fluid that surrounds the brain and spinal cord (intrathecal; IT) prolongs the time for children with Metachromatic Leukodystrophy (MLD) to…
- Trial name
- EMBOLDEN (NCT03771898)
- Testing
- SHP611
- Where
- 30 sites in United States, Argentina and 12 more
- Volunteers
- 36 people
- Sponsor
- Shire
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
Inborn Errors of Metabolism
Orphan Drugs for Inherited Metabolic Diseases
The aim of this study is to report and describe all the patients with confirmed diagnosis of inherited metabolic disease (IMD) treated with orphan medicinal products (OMPs) in a cohort of adult patients followed in a reference…
- Trial name
- NCT05818566
- Where
- Switzerland
- Volunteers
- 39 people
- Sponsor
- University of Lausanne
Asymptomatic Hyperuricemia
A Study to Assess the Effect of Intensive Uric Acid (UA) Lowering Therapy With RDEA3170, Febuxostat, Dapagliflozin on Urinary Excretion of UA
This is a randomized, placebo controlled, double-blind, 2-way crossover study conducted on asymptomatic hyperuricemic patients. The core study consists of screening period, 2 treatment periods (verinurad + febuxostat +…
- Trial name
- NCT03316131
- Testing
- Verinurad, Febuxostat, Dapagliflozin
- Where
- 2 sites in United States
- Volunteers
- 36 people
- Sponsor
- AstraZeneca
Lipid Storage Disease
Daily Living Activities and Exercise Capacity in Lipid Storage Diseases
Lipid Storage Diseases (LSD) is a group of metabolic diseases that are manifested by exercise intolerance or muscle weakness, sometimes accompanied by systemic findings, which develop in some stages of muscle contraction due to…
- Trial name
- NCT03875105
- Where
- Turkey (Türkiye)
- Volunteers
- 25 people
- Sponsor
- Istanbul University
GM2 Gangliosidoses, Tay-Sachs
Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses
We want to see if Zavesca (or miglustat) is safe and can be tolerated by patients with acute infantile onset GM2 gangliosidosis - classical Tay-Sachs and infantile onset Sandhoff disease.
- Conditions
- GM2 Gangliosidoses, Tay-Sachs, Sandhoff Disease
- Trial name
- NCT00672022
- Testing
- Zavesca (Miglustat)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's National Research Institute
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