Clinical trials: Genetic Disorders
Atopic Dermatitis, Eczema
Steroid-reducing Effects of Crisaborole
Atopic dermatitis, or eczema, is a chronic skin condition affecting many children. Crisaborole is a non-steroid topical medication which is FDA approved for children aged 2 and older for eczema.
- Trial name
- NCT03832010
- Testing
- Crisaborole, Hydrocortisone Ointment, Triamcinolone ointment
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Neurodegenerative Diseases
Exploring the Recovery Function of Sleep in Neurodegeneration
The overall objective of this study is to identify the best approach for assessing the recovery function of sleep in neurodegenerative diseases associated with abnormal protein aggregation with regard to the conception of future…
- Trial name
- RFSN (NCT05402488)
- Testing
- Auditory stimulation
- Where
- Switzerland
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Alzheimer Disease, Late Onset Alzheimer Disease
Alzheimer's Disease Genetics Study
The purpose of the Alzheimer's Disease Genetics Study is to identify the genes that are responsible for causing Alzheimer's Disease (AD).
- Conditions
- Alzheimer Disease, Late Onset Alzheimer Disease, Dementia
- Trial name
- NCRAD (NCT00064870)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Indiana University
Neurodevelopmental Outcomes, ADHD - Attention Deficit Disorder With Hyperactivity
Where Wild Things Grow: Nature- and Activity-based Group Interventions for Neurodivergent Children and Youth
The goal of this action research project is to develop and implement nature- and activity-based group interventions across health care, school and leisure settings in Southern Norway.
- Conditions
- Neurodevelopmental Outcomes, ADHD - Attention Deficit Disorder With Hyperactivity, Autism, Tourette Syndrome
- Trial name
- NCT07203469
- Testing
- Universal approach, Selective approach, Outdoor therapy
- Where
- 2 sites in Norway
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Sorlandet Hospital HF
Cystic Fibrosis (CF)
Muscle Fatigue in People With Cystic Fibrosis: Insight From a Mobile App
Muscle fitness is an important component of health. For instance, the ability to resist to muscle fatigue development is important for daily functioning.
- Trial name
- NCT07135869
- Testing
- One minute sit-to-stand test
- Where
- Spain
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Universidad Católica San Antonio de Murcia
Thalassemia in Children
Benson's Relaxation Technique, Music Therapy for Children With Thalassemia
The aim of the present study is to determine the effect of Benson's relaxation technique versus music therapy on physiological parameters and stress of children with thalassemia during blood transfusion.
- Trial name
- NCT05730374
- Testing
- Benson's Relaxation technique, Music therapy
- Where
- Egypt
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Alexandria University
Obesity, Wolman Disease
Breakfast for Young Women
Investigators will in a crossover study test the health effects of eating a dairy-based protein-rich breakfast, isocaloric carbohydrate-rich breakfast or no breakfast in young overweight women.
- Conditions
- Obesity, Wolman Disease, Nutrition
- Trial name
- GoDag (NCT04652713)
- Testing
- Protein-rich breakfast, Carbohydrate-rich breakfast, No breakfast
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Type 2 Diabetes, Gestational Diabetes Mellitus
The Next Generation Longitudinal Birth Cohort Diabetes Study
The overall aim of this project is to understand the independent roles of maternal factors, intrauterine exposures, genetic factors, and postnatal environment on the development of obesity and youth-onset type 2 diabetes (T2D) in…
- Trial name
- NextGen (NCT04621396)
- Testing
- Observational screening study
- Where
- Canada
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- University of Manitoba
Friedreich Ataxia
A Single Ascending Dose Study of DT-216P2 in Normal Healthy Participants
This purpose of the study is to evaluate the safety, tolerability and pharmacokinetics of single ascending doses of DT-216P2 administered either subcutaneously (SC) and intravenously (IV) in normal healthy participants.
- Trial name
- NCT06772870
- Testing
- DT-216P2, Saline
- Where
- Australia
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Design Therapeutics, Inc.
Down Syndrome, Child Obesity
HomeGrown: A Family-based Lifestyle Intervention to Support Healthy Development of Young Children With Down Syndrome
The goal of this project is to evaluate an adapted health promotion program, HomeGrown, designed to improve the health of young children with Down syndrome by supporting families in making healthy home environmental changes.
- Trial name
- HomeGrown (NCT07296861)
- Testing
- The HomeGrown, Waitlist
- Where
- United States
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Rare Diseases, Thoracic Aortic Aneurysm (TAA)
Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases
The aim of the present study is to characterise the phenotype of fibroblasts and to classify different mechanisms involved in the onset and progression of TAAD in syndromic and non-syndromic subjects in order to evaluate…
- Conditions
- Rare Diseases, Thoracic Aortic Aneurysm (TAA), Marfan Syndrome
- Trial name
- FIBRA (NCT06786754)
- Where
- Italy
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Cystic Fibrosis, Healthy
Multiple Breath Nitrogen Washout in Healthy and Cystic Fibrosis Children
This study compares the lung clearance index (LCI) in cystic fibrosis and healthy children obtained with two different multiple breath nitrogen washout (MBWN2) devices.
- Trial name
- NCT02378454
- Testing
- Comparison of two MBWN2 devices : "EasyOne Pro Lab" versus "Exhalyzer D"
- Where
- Belgium
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Congenital Central Hypoventilation Syndrome
Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control characterized by ventilatory impairment that results in arterial hypoxemia.
- Trial name
- CCHS (NCT01225679)
- Testing
- positive airway pressure, Non-invasive mechanic ventilation
- Where
- Brazil
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Associação Fundo de Incentivo à Pesquisa
Immune Deficiency, Immune Dysregulation Disorder
Allergy and Immunology Natural History Study
This protocol is a natural history study designed to evaluate subjects (and some family members) with suspected or identified genetic diseases of allergic inflammation or Immune Dysregulation.
- Conditions
- Immune Deficiency, Immune Dysregulation Disorder, Allergic Inflammation
- Trial name
- NCT05584488
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Retinitis Pigmentosa, Cone Dystrophy
Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
- Conditions
- Retinitis Pigmentosa, Cone Dystrophy, Usher Syndromes, Retina; Dystrophy
- Trial name
- NCT03990727
- Testing
- Retina Analysis-mosaic, Autofluorescence, OCT- 1 micra
- Where
- Mexico
- Volunteers
- 17,000 people, healthy volunteers welcome
- Sponsor
- MejoraVisionMD
22Q11 Deletion Syndrome
Mindfulness Program for Adolescents With 22q11DS
The goal of this study is to evaluate the effectiveness of the Aware Program, an online mindfulness education program, with adolescents with 22q11DS and their parents.
- Trial name
- NCT05849441
- Testing
- Aware Program
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Innovation Research & Training
Hemophilia
Movement Visualization in Patients With Hemophilic Arthropathy
Background. The recurrence of hemarthrosis in patients with hemophilia favors the development of an intra-articular, degenerative and progressive lesion (hemophilic arthropathy).
- Trial name
- NCT04237766
- Testing
- Experimental group
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- Real Fundación Victoria Eugenia
Hereditary Angioedema
An Open-label Drug-Drug Interaction Study to Evaluate the Effect of BCX7353 on Cytochrome P450 Enzyme Activity Using Probe Substrates
This is an open-label, single sequence study to evaluate the effect of BCX7353 on hepatic and intestinal cytochrome P450 enzymes using probe substrate drugs in healthy subjects.
- Trial name
- NCT02819102
- Testing
- BCX7353 and probes
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- BioCryst Pharmaceuticals
Kidney Neoplasms, Kidney Cancer
Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer.
- Conditions
- Kidney Neoplasms, Kidney Cancer, Pneumothorax, FLCN Protein, Human
- Trial name
- NCT00033137
- Where
- United States
- Volunteers
- 950 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Colonic Polyps
GENESIS: Genetic Biopsy for Prediction of Surveillance Intervals After Endoscopic Resection of Colonic Polyps
Colorectal cancer ist the 2nd most leading cancer among men and women in germany. Screening colonoscopy has the potential to detect premalignant lesions.
- Trial name
- GENESIS (NCT02595645)
- Testing
- Polypectomy and NGS
- Where
- 4 sites in Austria, Germany
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- University of Ulm
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