Clinical trials: Brain Malformation
COPD, Tetrahydrobiopterin Deficiency
O2 Transport and Utilization in Health and Lung Disease
Skeletal muscle dysfunction is a frequent and clinically relevant systemic manifestation of Chronic Pulmonary Obstructive Disease (COPD), which is still poorly understood.
- Conditions
- COPD, Tetrahydrobiopterin Deficiency, Oxidative Stress
- Trial name
- NCT04014712
- Testing
- Tetrahydrobiopterin
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Massachusetts, Amherst
Lafora Disease
Natural History and Functional Status Study of Patients With Lafora Disease
A natural history and functional status study to characterize the clinical disease course in Lafora disease patients using standardized, quantitative evaluations and to identify useful biomarkers and clinical outcome measures for…
- Trial name
- NCT03876522
- Where
- 4 sites in United States, Italy and 1 more
- Volunteers
- 33 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Wet Age-related Macular Degeneration
Comparing Efficacy of 8-Week and 12-Week Faricimab Initial Follow-Up Treatment Intervals
This is a prospective, randomized study that compares 8-week and 12-week follow-up intervals after the 4 monthly injections in the loading phase.
- Trial name
- NCT06875245
- Testing
- Faricimab Injection
- Where
- Czechia
- Volunteers
- 100 people
- Sponsor
- Faculty Hospital Kralovske Vinohrady
Cerebral Palsy (CP), Intraventricular Hemorrhage Neonatal
Intelligent Physiological Monitoring to Predict Preterm Brain Injury
Cerebral palsy (CP) remains prevalent among very (28-31 weeks) and extremely (<28 weeks) preterm infants. Prematurity-related brain injuries (high-grade intraventricular haemorrhage, IVH or periventricular leukomalacia, PVL)…
- Conditions
- Cerebral Palsy (CP), Intraventricular Hemorrhage Neonatal, Periventricular Leukomalacia, Neurodevelopmental Delay
- Trial name
- AI4NICU (NCT07880431)
- Testing
- EEG, NIRS
- Where
- Ireland
- Volunteers
- 413 people
- Sponsor
- University College Cork
Huntington Disease, Juvenile
REGISTRY-JHD - an Observational Study of the European Huntington's Disease Network (EHDN)
The study aims to monitor the progression of symptoms and signs of those affected by JHD using modified UHDRS scales of motor and function (functional assessment, TFC).
- Trial name
- JHD (NCT01590602)
- Where
- 2 sites in Germany, United Kingdom
- Volunteers
- 78 people
- Sponsor
- European Huntington's Disease Network
Friedreich's Ataxia
A Study to Learn More About Friedrich's Ataxia in People Living in the Gulf Cooperation Council (GCC) Region of the World
In this study, researchers will learn more about a disease called Friedrich's Ataxia, also known as FA. This is known as an "observational" study, which collects health information about study participants without changing their…
- Trial name
- NCT07887828
- Volunteers
- 40 people
- Sponsor
- Biogen
Dementia, Alzheimer Type, Mild Cognitive Impairment
Cardiac Amyloid Deposits and Heart Dysfunction in Alzheimer's Disease
This study seeks to explore the possible common pathogenesis of both cardiac amyloidosis and Alzheimer's disease, which can both be associated with amyloid deposits.
- Conditions
- Dementia, Alzheimer Type, Mild Cognitive Impairment, Cardiac Amyloidosis
- Trial name
- NCT07154394
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- University Hospital, Essen
Fabry Disease
An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease
This study will evaluate the safety of multiple biweekly intravenous doses of Replagal over 26 weeks in 25 children with Fabry disease and the way in which that agent can improve the health of this patient population.
- Trial name
- NCT00071877
- Testing
- Replagal
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Wilson Disease
Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine
A study to review Wilson disease patients who have previously been prescribed d- Penicillamine but were changed to trientine as treatment for their disease, and to follow them for a further 12 months.
- Trial name
- NCT02426905
- Testing
- trientine dihydrochloride
- Where
- 4 sites in Germany, Greece and 2 more
- Volunteers
- 90 people
- Sponsor
- Univar BV
Friedreich Ataxia
Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling
The purposes of this study are to learn about significant life changes for people with Friedreich's ataxia and about patients' experiences with health care providers.
- Trial name
- NCT00056186
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Huntington Disease
Clinicopathological MRI and CSF Correlates in Huntington's Disease.
In this study the investigators will link brain iron levels obtained from quantitative susceptibility maps of HD patients with specific and well-known clinical CSF markers for iron accumulation, neurodegeneration and…
- Trial name
- NCT05534139
- Testing
- 7T MRI-scan, CSF collection via lumbar puncture, Blood withdrawal
- Where
- Netherlands
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Leiden University Medical Center
Lysosomal Storage Disorders, Gaucher Disease
Investigating Lysosomal Storage Diseases in Minority Groups
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US.
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Fabry Disease, Pompe Disease
- Trial name
- NCT02120235
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Tourette Syndrome
Safety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome
This is a Phase 2b, randomized, double-blind, placebo-controlled, dose-optimization study to evaluate the efficacy, safety, and tolerability of NBI-98854 titrated to the subject's optimal dose administered once daily (qd) for a…
- Trial name
- NCT03325010
- Testing
- Valbenazine
- Where
- 35 sites in United States, Puerto Rico
- Volunteers
- 127 people
- Sponsor
- Neurocrine Biosciences
Congenital Heart Disease
Study of Possible Brain Hormone Problems After Open Heart Surgery in Infants
The goal of this study is to evaluate specific hormone levels in children undergoing heart surgery in order to identify patterns associated with any unstable vital signs.
- Trial name
- NCT00850720
- Testing
- Blood draws
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Emory University
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
Phenylketonuria
Phenylalanine and Its Impact on Cognition
The PICO-Study is a randomized, placebo-controlled, crossover, non-inferiority trial conducted to add evidence to the current European treatment guidelines for adult patients with phenylketonuria.
- Trial name
- PICO (NCT03788343)
- Testing
- Phenylalanine
- Where
- Switzerland
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Asphyxia Neonatorum
Biomarkers And Neurological Outcome in Neonates (BANON)
Validation of biomarkers in a human population for their ability to diagnose the severity of neonatal asphyxia. These biomarkers linked to asphyxia have been identified in animal studies and a preliminary human study.
- Trial name
- NCT03357250
- Where
- 11 sites in Germany
- Volunteers
- 553 people, healthy volunteers welcome
- Sponsor
- Life Science Inkubator
Cerebral Palsy, Intraventricular Hemorrhage
Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial)
As many more premature infants survive, the numbers of these infants with health problems increases. The rate of cerebral palsy (CP) in extremely premature infants is approximately 20%.
- Conditions
- Cerebral Palsy, Intraventricular Hemorrhage, Periventricular Leukomalacia, Pulmonary Edema
- Trial name
- BEAM (NCT00014989)
- Testing
- magnesium sulfate
- Where
- 17 sites in United States
- Volunteers
- 2,136 people
- Sponsor
- The George Washington University Biostatistics Center
Huntington's Disease
A Study to Evaluate the Safety and Tolerability of SAGE-718 in Participants With Huntington's Disease
The primary purpose of the study is to evaluate the safety and tolerability of SAGE-718 softgel lipid capsule in participants with Huntington's Disease (HD)
- Trial name
- NCT05655520
- Testing
- SAGE-718
- Where
- 43 sites in United States, Australia and 2 more
- Volunteers
- 153 people
- Sponsor
- Supernus Pharmaceuticals, Inc.
Hypercholesterolemia, Hypercholesterolemia, Familial
PET Imaging of Inflammation and Lipid Lowering Study
While 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging has been used as an early marker of drug efficacy in numerous clinical cardiovascular drug trials, as a glucose analog, its signal in the vasculature…
- Conditions
- Hypercholesterolemia, Hypercholesterolemia, Familial, Atherosclerosis, Carotid Artery Plaque
- Trial name
- PIILL (NCT04073797)
- Testing
- Inclisiran, 68Ga-DOTATATE PET-MRI, Colchicine
- Where
- United Kingdom
- Volunteers
- 63 people
- Sponsor
- University of Cambridge