Clinical trials: Brain Diseases, Metabolic
Lowe Syndrome
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
This study will investigate the genetic basis of oculocerebrorenal syndrome of Lowe (OCRL)-a rare X-linked disorder (carried by females and passed to males).
- Trial name
- NCT00359515
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Coronary Artery Disease, Diabetes Mellitus, Type 2
Exercise Training in Patients With Coronary Heart Disease and Type 2 Diabetes
Diabetes mellitus (DM) is an important risk factor in the development of cardiovascular disease, and people with type 2 diabetes have a two- to four-fold increased risk for cardiovascular morbidity and mortality.
- Conditions
- Coronary Artery Disease, Diabetes Mellitus, Type 2, Atherosclerosis
- Trial name
- EXCADI (NCT01232608)
- Testing
- Exercise
- Where
- Norway
- Volunteers
- 137 people
- Sponsor
- Oslo University Hospital
Covid19
Prevention and Treatment of Patient Before, During, and After Covid-19 Infection
AntiCov-220 prevents and treats before, during, and after infection with SARS-CoV-2. The composition is fractionally extracted from herbs (Ascorbic Acid, L-Arginine hydrochloride, Adenosma glutinosum extract, Eclipta prostrata…
- Trial name
- AntiCov-220 (NCT05043324)
- Testing
- AntiCov-220
- Where
- 2 sites in United States, Vietnam
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- Nguyen Thi Trieu, MD
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases.
- Conditions
- Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Congenital Myopathy
- Trial name
- ARNseq-Musc (NCT06833489)
- Testing
- ARN extraction from muscle biopsies
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Gaucher Disease
Clinical Audit of Managment of Gausher Disease in Children
clinical audit on managment of gausher disease in children
- Trial name
- NCT03590548
- Testing
- gausher disease
- Volunteers
- 1 people
- Sponsor
- Yasmeen Abd Elbaset Hamzaa
Diabetes
Effect of Flavanol-rich Cocoa on Peripheral and Cerebral Blood Flow in Type 2 Diabetes
Cocoa flavanols form part of the family of chemicals (also found in red wine and tea) which have aroused interest due to population studies suggesting that diets high in these substances might reduce risks of heart disease.
- Trial name
- NCT01654172
- Testing
- High Flavanol Cocoa, Low Flavanol Cocoa
- Where
- United Kingdom
- Volunteers
- 18 people
- Sponsor
- University of Nottingham
Stroke, Acute, Hyperglycemia
Pioglitazone Treatment for Hyperglycemic Acute Ischemic Stroke
Study objective is to determine whether Pioglitazone (PGZ) can improve clinical outcomes in hyperglycemic acute ischemic stroke (IS).
- Conditions
- Stroke, Acute, Hyperglycemia, Diabetes
- Trial name
- NCT04123067
- Testing
- Pioglitazone 45 mg
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Milton S. Hershey Medical Center
Alzheimer's Disease, Mild Cognitive Impairment
A Composite MR Neuroimaging Marker for Alzheimer's Disease
The purpose of this study is to use a functional MRI (fMRI) index to compare the brain activity of healthy volunteers to that of people with mild cognitive impairment (MCI) and Alzheimer's disease.
- Conditions
- Alzheimer's Disease, Mild Cognitive Impairment, Frontotemporal Dementia
- Trial name
- NCT01615666
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Medical College of Wisconsin
Body Dysmorphic Disorder
Escitalopram Neuroimaging Supplement
The purpose of this study is to find out more about the brain's response to selective serotonin reuptake inhibitor (SSRIs) treatment in people with body dysmorphic disorder (BDD).
- Trial name
- NCT01398865
- Testing
- PET scan and MRI scan
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Massachusetts General Hospital
Traumatic Brain Injury
A Clinical Trial of the Effect of Midazolam on the Cerebral Metabolism and Inflammatory Response in Patients With Moderate and Severe Traumatic Brain Injury
To explore the cerebral protective effect of midazolam in patients with traumatic brain injury, we will collect blood samples from patients treated with or without midazolam when the patient is admitted to ICU, 24 h, 48 h and 72…
- Trial name
- NCT02071407
- Testing
- Midazolam
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Subei People's Hospital of Jiangsu Province
Phenylketonuria (PKU)
Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria
This is a Phase 3 open-label randomized controlled study enrolling approximately 54 adolescents with PKU. The study is designed to assess the safety and efficacy of pegvaliase injections.
- Trial name
- PEGASUS (NCT05270837)
- Testing
- Pegvaliase, Diet Only
- Where
- 16 sites in United States, Germany
- Volunteers
- 55 people
- Sponsor
- BioMarin Pharmaceutical
Brain Diseases, Central Nervous System Diseases
Digital Diagnostics and Intervention Services for Parkinson's Disease
People with Parkinson's have infrequent clinical consultation (once every 12-18 months) and limited rehabilitation. Assessment play an important role in these consultations to help clinicians understand patients' health status…
- Conditions
- Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Joint Diseases
- Trial name
- NCT06534177
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Gaucher Disease
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)
The primary objective of this study was to evaluate the efficacy and safety of once daily (QD) versus twice daily (BID) dosing of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had demonstrated…
- Trial name
- NCT01074944
- Testing
- Eliglustat tartrate
- Where
- 46 sites in United States, Australia and 15 more
- Volunteers
- 170 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
A Co-designed Physical Activity Intervention in Fabry Disease
Currently, treatments for Fabry disease are pharmacological and predominantly focus on the physical symptoms of the disease. In the general population and individuals with disabilities, increasing physical activity levels and…
- Trial name
- NCT06257901
- Testing
- Interviews/Focus groups/Participatory workshops
- Where
- United Kingdom
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Brunel University
Peroxisome Biogenesis Disorders
Betaine and Peroxisome Biogenesis Disorders
The PBD are a rare group of inherited disorders due to the failure to form functional cellular peroxisomes. Most patients have progressive hearing and visual loss, leading to deafness and blindness, as well as neurological…
- Trial name
- NCT01838941
- Testing
- Betaine
- Where
- Canada
- Volunteers
- 12 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Ataxia Telangiectasia in Children, Ataxia Telangiectasia
Home-based Complex Intervention for Children With Ataxia Telangiectasia
Ataxia telangiectasia is a rare, genetic and progressive condition with no known cure. Therapies present a mainstream management option and have the potential to offer optimisation of fitness and general health.
- Trial name
- NCT05692622
- Testing
- Whole-body exercise and respiratory exercise
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- University of Plymouth
Cirrhosis, Hepatic Encephalopathy
Brain Energy Metabolism in Patients With Chronic Liver Disease and Impaired Central Nervous System
The purpose of the current study is to look into the pathogenesis of a severe medical condition causing acute episodes on the central nervous system as seen in majority of patients with liver cirrhosis.
- Trial name
- NCT00424957
- Where
- Denmark
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Fabry Disease
Agalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in Taiwan
This is a national, multicenter, observational, cohort study designed to assess clinical outcomes upon agalsidase beta treatment, to characterize the clinical manifestations, and to collect the natural history on male and female…
- Trial name
- NCT06052800
- Where
- 5 sites in Taiwan
- Volunteers
- 78 people
- Sponsor
- Sanofi
Phenylketonuria (PKU)
The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria
Recommendations regarding the frequency of phenylalanine level monitoring lack solid support from evidence derived from prospective randomized trials, including in the adult population with classic PKU.
- Trial name
- FreqPHEncy (NCT07825883)
- Testing
- DBS Phe monitoring once weekly, DBS Phe monitoring once monthly
- Where
- Poland
- Volunteers
- 36 people
- Sponsor
- Michał Kania
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