Clinical trials: Genetic Disorders
Genetic Risk for Alzheimer's Disease
Effects of Donepezil HCL on Task-Activated fMRI Brain Activation in Healthy Older Adults at Genetic Risk for Alzheimer's Disease
This study examines the sensitivity of functional MRI to detect brain changes caused by donepezil HCL (a cholinesterase inhibitor) in healthy older adults at genetic risk for Alzheimer's Disease.
- Trial name
- NCT02087865
- Testing
- donepezil HCL
- Where
- United States
- Volunteers
- 89 people, healthy volunteers welcome
- Sponsor
- The Cleveland Clinic
Familial Mediterranean Fever
Evaluation of Bone Metabolism in Children and Adolescents With Familial Mediterranean Fever
Familial Mediterranean Fever is a chronic auto-inflammatory disease. In the context of chronic inflammation, it seems that, among others, it also affects bone density in children.
- Trial name
- FMF (NCT06034795)
- Where
- Greece
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Aristotle University Of Thessaloniki
Inborn Errors of Metabolism, Propionic Aciduria
Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
Study around children with inborn errors of metabolism (IEM) and their healthy siblings. Collection of stool and urine to assess contribution of microbiota to disease severity.
- Conditions
- Inborn Errors of Metabolism, Propionic Aciduria, Methylmalonic Aciduria, Urea Cycle Disorder
- Trial name
- IEM (NCT05330039)
- Where
- Switzerland
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Emma Marie Caroline Slack
Cystic Fibrosis, Pulmonary
Airway Clearance System (K031876) Phase IV Device Efficacy
Phase IV interventional study of adults (18 to 55) having a diagnosis of cystic fibrosis (mild, moderate or severe). The study is completely voluntary and is designed to measure participants use and the effectiveness of the…
- Trial name
- NCT03437811
- Testing
- Electro Flo Percussor, Model 5000
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Mack Biotech, Corp.
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
Lead Poisoning
Exposure, Dose, Body Burden and Health Effects of Lead
This is a study of the effects that lead has on the health of the central nervous system (for example, memory), peripheral nervous system (for example, sensation and strength in the hands and fingers), kidneys, blood pressure…
- Trial name
- NCT00013819
- Volunteers
- 944 people, healthy volunteers welcome
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Alzheimer's Disease, Huntington's Disease
A Phase 1, Non-Randomized, Open-Label, Single-Dose Study To Evaluate The Pharmacokinetics, Safety, And Tolerability Of Dimebon [PF 01913539] In Subjects With Severely-Impaired And Normal Renal Function
This study is to compare the pharmacokinetics of Dimebon in subjects with severe renal impairment to subjects with normal renal function after oral administration of a single oral 20-mg dose of Dimebon.
- Trial name
- NCT00824590
- Testing
- Dimebon
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Pfizer
SMA II, Cerebral Palsy
Paracetamol Study in Patients With Low Muscle Mass
To investigate the safety and toxicity related to paracetamol treatment in children and adults with respectively SMA and CP.
- Trial name
- NCT03648658
- Testing
- Paracetamol 120Mg/5mL Oral Suspension
- Where
- Denmark
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Mette Cathrine Oerngreen
Fuchs Dystrophy, Cataract
The Evaluation of Balanced Salt Solution During Cataract Surgery
This study aims to identify if the use of BSS PLUS® Sterile Intraocular Irrigating Solution as an irrigation solution leads to improved corneal outcomes vs BSS® Sterile Irrigating Solution in more compromised corneas.
- Trial name
- NCT05853978
- Testing
- BSS Plus, BSS
- Where
- United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Adam Fedyk, MD, FACS
Coronary Artery Disease
Personal Genomics for Preventive Cardiology
The purpose of this study is to see if providing information to a person on their inherited (genetic) risk of cardiovascular disease (CVD) helps to motivate that person to change their diet, lifestyle or medication regimen to…
- Trial name
- NCT01406808
- Testing
- genetic risk score for coronary risk factors
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Stanford University
Lung Infection
Detecting Lung Infections Through Vibration
The purpose of this study is to test a lung air vibrator device for vibrating air inside the lung. This exploratory diagnostic trial will test a novel and non-invasive means of detecting lower airway infections using exhaled…
- Trial name
- NCT02056860
- Testing
- Group 1 will receive 15 Hz, Group 2 will receive 30 Hz, Group 3 will receive 60 Hz
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of Florida
Cystic Fibrosis
Upper Extremity Exercise Capacity, Muscle Oxygenation, Balance in Patients With Cystic Fibrosis
The primary aim of the study is to evaluate upper extremity exercise capacity, muscle oxygenation, balance and physical activity level in patients with cystic fibrosis..
- Trial name
- NCT04803643
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Gazi University
Acne, Actinic Keratosis
Potential Research Study Participant Registry
The purpose of the potential research study participant registry is to keep potential research subjects informed about any future research studies in which they may meet the criteria for enrollment.
- Conditions
- Acne, Actinic Keratosis, Dysplastic Nevi, Eczema
- Trial name
- NCT00710489
- Where
- United States
- Volunteers
- 265 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Down Syndrome
Assessment of Neural Oscillations in Adult Subjects With Down Syndrome and Typically Developing Subjects in Resting State and While Conducting Cognitive Tasks
Background: It has been proposed that a hyperactivity of the endocannabinoids system could be involved in the cognitive deficits involved in Down Syndrome (DS).
- Trial name
- EEGDS (NCT04791124)
- Testing
- Electroencephalography
- Where
- Spain
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Parc de Salut Mar
Spinocerebellar Ataxias
Use of a New Smartphone Application to Determine Changes in Eyeblink Conditioning From Home Training in Individuals With Spinocerebellar Ataxia
Spinocerebellar ataxias are a group of disorders that cause severe disability and can be fatal. There are currently no known disease-modifying treatments available for use, and there is a critical need to find treatments that…
- Trial name
- NCT06177626
- Testing
- Aerobic Training, Balance Training
- Volunteers
- healthy volunteers welcome
- Sponsor
- Columbia University
Psoriasis, Psoriatic Arthritis
Genetic Variation in TRAF3IP2 (rs13190932)
Psoriasis is an immune-mediated inflammatory disease that is highly prevalent worldwide, affecting approximately 2-3% of the world population.
- Trial name
- NCT07086924
- Testing
- Methotrexate
- Where
- Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- South Valley University
Skin, Scar
Therapy of Scars and Cutis Laxa With Autologous Adipose Derived Mesenchymal Stem Cells
The aim of this study is to compare clinical outcomes of patients with large scars or Cutis laxa treated with injections of autologous stromal vascular fraction cells (SVF) and adipose-derived mesenchymal stem cells (ADSC).
- Conditions
- Skin, Scar, Cutis Laxa, Keloid
- Trial name
- 2ABC (NCT03887208)
- Testing
- Laser therapy, Autologous ADSC injection, Normal saline injection
- Where
- 3 sites in Poland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Medical University of Warsaw
Age-Related Macular Degeneration, Choroidal Neovascularization
Value of Genetic Counseling and Testing for Patients Who Would Like to Know More About Their Personal Risk of AMD
The goals of this study are: To assess the impact of genetic testing based on how it alters behaviors, to assess the utility of serum biomarker measurement in combination with genetic testing, to assess the utility of genetic…
- Conditions
- Age-Related Macular Degeneration, Choroidal Neovascularization, Genetic Counseling
- Trial name
- NCT03024424
- Testing
- Early disclosure, Late disclosure
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of Utah
Fanconi Anemia
Gene Function in Bone Marrow Cells From Patients With Fanconi Anemia and From Healthy Participants
RATIONALE: Studying samples of bone marrow from patients with Fanconi anemia and from healthy participants in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to Fanconi…
- Trial name
- NCT00896740
- Testing
- microarray analysis, biopsy
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- OHSU Knight Cancer Institute
Huntington's Disease, Tourette Syndrome
Brain Stimulation in Movement Disorders
Brain stimulation in movement disorders This trial will explore the effects of very gentle electrical stimulation of the brain in patients with movement disorders.
- Trial name
- NCT02216474
- Testing
- Transcranial direct current stimulation
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Birmingham and Solihull Mental Health NHS Foundation Trust
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