Clinical trials: Genetic Diseases, Inborn
Tourette Syndrome, Habit Reversal Training
Extinction Learning in Adults With Tourette Syndrome
Aversive sensory phenomena such as premonitory urges play a central role in the behavioral treatment model of tics. Extinction learning and extinction recall are learning processes implicated within this model, but are still…
- Conditions
- Tourette Syndrome, Habit Reversal Training, Tic Disorders, Tics
- Trial name
- NCT04498364
- Testing
- Habit Reversal Training
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Cystic Fibrosis
BioEnergetics and Metabolomics in Cystic Fibrosis
With better medical care, patients with cystic fibrosis (CF), a life-threatening disease, are enjoying longer lives. As the CF life expectancy increases, conditions such as CF-related diabetes (CFRD) become more prevalent.
- Trial name
- BEAM-CF (NCT02225899)
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Emory University
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes
A Study to Learn How Safe the Study Treatment Elinzanetant is and How it Moves Into, Through and Out of the Body When Given as Single Increasing Doses That Are Higher Than Normally Used Compared to Placebo and Moxifloxacin in Healthy Participants
Researchers are looking for a better way to treat vasomotor symptoms, a condition of having hot flashes. The condition is caused by hormonal changes and occurs primarily in women, but can also affect men.
- Conditions
- Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes, Healthy Volunteers
- Trial name
- NCT05481528
- Testing
- Moxifloxacin, Elinzanetant (BAY3427080)
- Where
- Germany
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Bayer
Aortic Stenosis
Loss of Y Chromosome in Aortic Stenosis
The most common heart valve disease in humans is aortic stenosis which is a critical narrowing of the valve through which the heart has to pump blood to the rest of the body.
- Trial name
- NCT06595407
- Testing
- Blood analysis for loss-of-Y chromosome
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Behcet Disease
Asprosin in Behect Patients
This study aims to investigate serum Asprosin concentrations in patients with BD and their relationship with disease activity and major clinical manifestations.
- Trial name
- NCT07803198
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Assiut University
Atopic Dermatitis
CorEvitas International Adolescent Atopic Dermatitis (AD) Drug Safety and Effectiveness Registry
Prospective observational registry for an adolescent cohort with AD under the care of a dermatology provider. Approximately 1500 subjects and 75 clinical sites in North America and select European countries will be recruited to…
- Trial name
- NCT06238765
- Where
- United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- CorEvitas
Skin Laxity
Radio Frequency Microneedling for Suprapatellar Skin
The human skin aging process is characterized by thinning dermis, atrophy of the extracellular matrix, and reduced collagen synthesis.
- Trial name
- NCT03507036
- Testing
- Profound system
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Hemophilia A, Hemophilia B
Pre-clinical Models for Mesenchymal Stem Cell Therapy in Hemophilic Arthropathy
Hemophilia is a constitutional coagulation disorder responsible for a hemorrhagic phenotype in patients from an early age. Hemarthrosis is one of the most frequent complications in hemophiliacs and leads to the development of…
- Conditions
- Hemophilia A, Hemophilia B, Arthropathy
- Trial name
- NCT05187936
- Where
- France
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Hypoparathyroidism, Pseudo Hypoparathyroidism
QoL and Cognitive Function in Patients With Hypoparathyroidism
Hypoparathyroidism (HypoPT) is a disease with inadequate production of parathyroid hormone (PTH) from the parathyroid glands leading to hypocalcemia.
- Trial name
- MR-hypoPT (NCT04569604)
- Testing
- MRI scans, Neuro cognitive tests, Questionnaires on Quality of Life
- Where
- Denmark
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
HER2-positive Breast Cancer
PIK3CA in HER2+ BC and pCR Trial
The goal of the study is to evaluate the impact of somatic PI3KCA mutations on pCR in HER2-positive early breast cancer in real life. The main question it aims to answer iS.
- Trial name
- NCT05750693
- Testing
- PIK3CA analysis
- Where
- Italy
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Cystic Fibrosis
Safety, Tolerability, and Pharmacokinetics of ARCT-032 in Healthy Adult Subjects and Adults With Cystic Fibrosis.
Determine the safety, tolerability and pharmacokinetics of single doses of ARCT-032 in healthy adult subjects (Phase 1) and of two doses in Adults with Cystic Fibrosis (Phase 1b).
- Trial name
- NCT05712538
- Testing
- ARCT-032
- Where
- New Zealand
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- Arcturus Therapeutics, Inc.
Hemophilia, Arthropathy of Knee
Evaluation of Static Postural Balance in Children With Hemophilia and Its Relationship With Joint Health
Hemophilia is a rare hematological disorder characterized by a partial or complete deficiency of clotting factor VIII or IX.Bleeding disorders mainly affect the musculoskeletal system.
- Conditions
- Hemophilia, Arthropathy of Knee, Arthropathy of Ankle or Foot
- Trial name
- NCT04406519
- Where
- Turkey (Türkiye)
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Necmettin Erbakan University
Spinocerebellar Ataxia 3
Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3
There are no clinically established treatments which have been proven to delay the disease progression in spinocerebellar ataxia (SCA) 3.
- Trial name
- NCT04426149
- Testing
- trehalose
- Where
- Malaysia
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- National University of Malaysia
Down Syndrome, Balance
The Effects of Kinesiotaping on Balance in Children With Down Syndrome.
This study aimed to explore the effects of Kinesio tape applied to plantar soles on balance in children with Down Syndrome (DS). Two groups including children with DS and a group with their typically developing peers evaluated.
- Trial name
- NCT04156607
- Testing
- Kinesio taping
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Gazi University
Pancreatic Exocrine Insufficiency
The Development of a Metabolomic Test to Diagnose and Quantify Pancreatic Exocrine Insufficiency (The DETECTION Study)
DETECTION. The development of a metabolomic test to diagnose and quantify pancreatic exocrine insufficiency.
- Trial name
- DETECTION (NCT05980221)
- Testing
- Metabolomics, 13C MTGT
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University Hospital Birmingham NHS Foundation Trust
Glycogen Storage Disease Type 2, Dystrophia Myotonica
An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders.
- Trial name
- NCT02708784
- Where
- 2 sites in Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Haemophilia
Inter Individual Variability in Initiation Pathway Activation and Regulation and Phenotypic Heterogeneity in Patients With Haemophilia A and B
Severe haemophilia A and B (SHA, SHB) are X - linked inherited bleeding disorders, characterised by factor VIII and IX levels of <1 IU/dL respectively.
- Trial name
- InPath (NCT03287999)
- Testing
- Thrombophilia screen, Initiation pathway analysis
- Where
- United Kingdom
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Royal Free Hospital NHS Foundation Trust
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Corneal Dystrophy
Corneal Endothelium Morphology and Central Thickness in Type II Diabetes Mellitus and Normal Subjects
The purpose of this study is to compare corneal endothelium morphology and central thickness in type II Diabetes Mellitus and normal subjects with special reference to glycemic status.
- Trial name
- NCT01084850
- Where
- Denmark
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Frederiksberg University Hospital
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