Clinical trials: Brain Diseases, Metabolic
Homocystinuria Due to CBS Deficiency
Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)
The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 1 to 65 years under current clinical management practices
- Trial name
- NCT02998710
- Where
- 11 sites in United States, Ireland and 2 more
- Volunteers
- 110 people
- Sponsor
- Travere Therapeutics, Inc.
Fabry Disease
A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease
No investigational drug will be administered in this study for the treatment of Fabry disease. This will be a multicenter, multinational, non-treatment, cross-sectional study of young male patients with Fabry disease who have not…
- Trial name
- NCT01839526
- Testing
- Iohexol
- Where
- 22 sites in United States, Argentina and 12 more
- Volunteers
- 39 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study)
Long-term outcome in late-onset Pompe disease treated beyond 36 months (ATBIG-Pompe-Study), a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 8 years old, diagnosed with…
- Trial name
- STIG (NCT02824068)
- Testing
- glucosidase alfa
- Where
- 3 sites in Germany, Italy and 1 more
- Volunteers
- 112 people
- Sponsor
- LMU Klinikum
OTC Deficiency, Ornithine Transcarbamylase Deficiency
A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD
Evaluate the safety and pharmacodynamics of multiple doses of ARCT-810 in adolescent and adult participants with OTC deficiency.
- Conditions
- OTC Deficiency, Ornithine Transcarbamylase Deficiency, OTCD
- Trial name
- NCT06488313
- Testing
- ARCT-810
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Arcturus Therapeutics, Inc.
Diabetes, Hyperlipidemia
Diabetic Under 70 (Diabetics Below 70)
A screening project of diabetics with a very high cardiovascular risk (e.g. diabetes plus coronary heart disease) who already receive cholesterol-lowering therapy.
- Conditions
- Diabetes, Hyperlipidemia, Atherosclerosis
- Trial name
- NCT00516204
- Where
- Austria
- Volunteers
- 685 people
- Sponsor
- AstraZeneca
Migraine, Obesity
Diet and Migraine Study
The purpose of this study is to look at two different diets (a low carbohydrate diet and a low fat diet) for migraine prevention in overweight or obese persons with migraine.
- Trial name
- NCT01859052
- Testing
- Low carbohydrate diet, Low calorie low fat diet, AHA diet recommendations
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Hepatic Encephalopathy, Liver Cirrhosis
Endoscopic Shunts Embolization for Refractory Hepatic Encephalopathy
The goal of this clinical trial is to learn if endoscopic ultrasound guided (EUS guided) spontaneous porto-systemic shunt (SPSS) embolization works to treat refractory hepatic encephalopathy in adults.
- Conditions
- Hepatic Encephalopathy, Liver Cirrhosis, Portal Shunt Systemic
- Trial name
- NCT07553858
- Testing
- Endoscopic ultrasound-guided transgastric embolization of the spontaneous portosystemic shunts, Interventional Radiology for shunt embolization/retrograde tranvenous obliteration
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- Rutgers, The State University of New Jersey
Gaucher's Disease
Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease
OBJECTIVES: I. Evaluate the efficacy and toxicity of glucocerebrosidase enzyme therapy in patients with Gaucher disease.
- Trial name
- NCT00004293
- Testing
- glucocerebrosidase
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- National Center for Research Resources (NCRR)
Dementia, Alzheimer Disease
Care Ecosystem: Navigating Patients and Families Through Stages of Care, Extension Trial
This is an extension trial of a prior trial (NCT02213458). Both persons with dementia (PWD) and their caregivers were enrolled as dyads.
- Conditions
- Dementia, Alzheimer Disease, Dementia, Vascular, Lewy Body Disease
- Trial name
- NCT04287738
- Testing
- Navigated Care
- Volunteers
- 912 people
- Sponsor
- University of California, San Francisco
Hepatic Encephalopathy
A 6-month Efficacy, Safety, and Tolerability Study of Rifaximin In Preventing Hepatic Encephalopathy
The purpose of this study is to determine if the study drug is safe and effective in preventing hepatic encephalopathy (HE).
- Trial name
- NCT00298038
- Testing
- Rifaximin
- Volunteers
- 299 people
- Sponsor
- Bausch Health Americas, Inc.
Obesity, Pregnancy Complications
NT-proBNP Levels and Obesity in Pregnancy
A screening modality to help categorize obese pregnant women as high or low probability for heart failure would be helpful in the evaluation of the obese pregnant women with dyspnea.
- Conditions
- Obesity, Pregnancy Complications, Peripartum Cardiomyopathy
- Trial name
- NCT04049136
- Testing
- NT-proBNP
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Duke University
Pompe Disease
Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
This study intends to evaluate dynamic respiratory motor performance as a valuable measure of pulmonary function in adults with late-onset Pompe disease.
- Trial name
- DRMF (NCT02354664)
- Testing
- Thoracic MRI, Spirometry, Inspiratory Load Compensation
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of Florida
Etiology of Hyperlactathemia, Early Period After Cardiopulmonary Bypass Surgery
NEW MONITORING IN DIFFERENTIAL DIAGNOSIS OF HYPERLACTATHEMIA IN CARDIOPULMONARY BYPASS SURGERY
Objective: The objective of the study was to investigate a reverse correlation between blood lactate levels and rSO2, and distinguish between hypoxic and non-hypoxic hyperlactatemia seen in the early postoperative period.
- Conditions
- Etiology of Hyperlactathemia, Early Period After Cardiopulmonary Bypass Surgery, Washout Phenomenon
- Trial name
- NCT04706884
- Testing
- Near infrared spectroscopy
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 60 people
- Sponsor
- Acibadem University
Subarachnoid Hemorrhage
Study of Changes in CSF Ionic Composition After Aneurysmal Meningeal Hemorrhage
Hyponatremia is a frequent complication of subarachnoid hemorrhage (SAH) with a prevalence of 30 to 50% in patients with this condition.
- Trial name
- ION_SAH (NCT05942755)
- Testing
- Concurrent evaluation of blood and CSF ionograms to determine if there is a correlation between CSF change and the development of hyoponatremia between day 0 and day 14.
- Where
- France
- Volunteers
- 80 people
- Sponsor
- Hospices Civils de Lyon
Amyotrophic Lateral Sclerosis, Frontotemporal Dementia
A Phase 2a Study of TPN-101 in Patients With C9ORF72 ALS/FTD
This is a Phase 2a study to assess the the safety and tolerability of TPN-101 in patients with Amyotrophic Lateral Sclerosis (ALS) and/or Frontotemporal Dementia (FTD) Associated with Hexanucleotide Repeat Expansion in the…
- Trial name
- NCT04993755
- Testing
- TPN-101, 400 mg/day
- Where
- 19 sites in United States, Belgium and 3 more
- Volunteers
- 42 people
- Sponsor
- Transposon Therapeutics, Inc.
Obstructive Sleep Apnea
Effects of Exercise Training on Cognitive Performance and Sympathetic Activity in Obstructive Sleep Apnea
Abstract Obstructive sleep apnea syndrome (OSA) is characterized by complete or partial collapse of a narrowed pharynx and it's associated with reduction in cerebral blood flow, cardiovascular disease, and neuropsychological…
- Trial name
- NCT02289625
- Testing
- Exercise Training
- Where
- Brazil
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo General Hospital
Friedreich's Ataxia
An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia
The purpose of this study is to learn how treatment with acetyl-L-carnitine (ALCAR) will affect the hearts of patients with Friedreich's Ataxia as well as how it may affect other symptoms of Friedreich's Ataxia such as…
- Trial name
- NCT01921868
- Testing
- Acetyl-L-Carnitine
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of South Florida
Adult Growth Hormone Deficiency
Metabolic Endocrinology and Growth Hormone in Adults
This is a multicentric, longitudinal, observational study with the prospective follow-up of Adult subjects with Growth Hormone Deficiency (AGHD) being treated with Saizen, every six months in the first year and then annually.
- Trial name
- MEGHA FRANCE (NCT01080755)
- Volunteers
- 90 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Generalized Epilepsy, Infantile Spasms
Metabolic Abnormalities in Children With Epilepsy
This study is designed to use positron emission tomography to measure brain energy use. Positron Emission Tomography (PET) is a technique used to investigate the functional activity of the brain.
- Conditions
- Generalized Epilepsy, Infantile Spasms, Metabolic Disease, Partial Epilepsy
- Trial name
- NCT00001325
- Testing
- 18 FDG
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Ataxia Telangiectasia
Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT02285348
- Testing
- Lumbar puncture
- Where
- Germany
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
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