Clinical trials: Genetic Diseases, Inborn
Thyroid Volume, Thyroid Ultrasound
Ultrasound Measurement of Thyroid Volume in Term Newborns
First, to date, no data are available on the thyroid volume of full-term newborns in Italy, making it essential to conduct studies to establish reference values for normality.
- Conditions
- Thyroid Volume, Thyroid Ultrasound, Congenital Hypothyroidism, Healthy Newborns
- Trial name
- NEOTIR (NCT07579988)
- Testing
- Thyroid ultrasound
- Where
- Italy
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- IRCCS Ospedale San Raffaele
Graves Disease, Graves Ophthalmopathy
Systemic Inflammation, Thyroid Autoimmunity and Neuroretinal Changes in Graves Disease
This retrospective observational study aims to evaluate the relationship between systemic inflammatory parameters, thyroid autoimmunity markers, and neuroretinal structures in patients with Graves disease.
- Trial name
- NCT07480720
- Where
- Turkey (Türkiye)
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Elazıg Fethi Sekin Sehir Hastanesi
Ehlers-Danlos Syndrome, Anesthesia, Local
Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers
Local anesthetic resistance is commonly reported by patients with EDS. However, there are no objective data on the occurrence of local anesthetic resistance in EDS patients and in healthy volunteers.
- Trial name
- NCT04036305
- Testing
- 0.9% Sodium Chloride Injection, Lidocaine Injection 2%, Bupivacaine Injection 0.5%
- Where
- United States
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Atopic Dermatitis, Eczema
Defining the Skin and Blood Biomarkers of Pediatric Atopic Dermatitis
Atopic dermatitis (AD), also known as eczema, is the most common inflammatory skin disorder of children, affecting 10-20% of children and 1-2% of adults.
- Trial name
- NCT01782703
- Where
- 4 sites in United States
- Volunteers
- 505 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Obstructive Sleep Apnea, Down Syndrome
Validation of Sleep Questionnaires in the Down Syndrome Population
This will be a prospective validation study of a sample of consecutive pediatric Down syndrome patients who are seen through the weekly Down syndrome clinic at OHSU/Doernbecher's.
- Trial name
- NCT03771469
- Testing
- Sleep study
- Where
- United States
- Volunteers
- 81 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Skin Laxity, Meibomian Gland Dysfunction
Evaluation of Ocular Surface Changes Following RF Electrocoagulation Treatment of the Periorbital Region
This protocol will evaluate THERMIeyes® for its ability to treat periorbital skin laxity and wrinkles and monitor ocular surface changes and their effect on evaporative dry eye associated with MGD.
- Trial name
- NCT03280069
- Testing
- THERMIeyes® 20 RF System
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Ophthalmic Consultants of Long Island
Age - Related Macular Degeneration (AMD), Diabetic Macular Edema
Wide Field OCTA in Ocular Diseases
The main retinal diseases, whether or not associated with specific mutations genetic, cause progressive degeneration of vascular retinal structures and not vascular, resulting in decreased visual function.
- Conditions
- Age - Related Macular Degeneration (AMD), Diabetic Macular Edema, Diabetic Retinopathy, Myopia
- Trial name
- WOOD-2025 (NCT07298174)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Asthma, Dermatitis, Atopic
Impact in Off-spring of Mothers After Perinatal Daily Intake of a Probiotic
A probiotic (Lactobacillus rhamnosus GG) supplement to pregnant women the last four weeks of pregnancy and three months after birth is expected to give a 40% reduction in risk of atopic sensitisation and allergic disease at two…
- Conditions
- Asthma, Dermatitis, Atopic, Rhinitis, Allergic, Perennial
- Trial name
- NCT00159523
- Testing
- Probiotic
- Where
- Norway
- Volunteers
- 416 people, healthy volunteers welcome
- Sponsor
- Norwegian University of Science and Technology
Healthy Volunteers Sickle Cell Disease, Thalassemia
A Research Study of the Effect of Food on Etavopivat in Healthy Participants
The purpose of this study is to evaluate the effect of food on the amount of etavopivat in the bloodstream of healthy participants. Participants will take a single oral dose of etavopivat following a high-fat meal (i.e.
- Trial name
- NCT06433661
- Testing
- Etavopivat
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Novo Nordisk A/S
Ehlers-Danlos Syndrome, Healthy Subjects
ABVN Phase 2 - EDS Wearable Device
The vagus nerve is a nerve that controls many bodily functions, including stomach function. Investigators hope that electrically stimulating the nerve around the external ear will also stimulate the internal vagus nerve.
- Trial name
- ABVN2 (NCT07856459)
- Testing
- ML1101 Stimulus Isolator, Cardiowatch Bracelet
- Where
- United States
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Indiana University
Endometrial Adenocarcinoma, Endometrial Carcinoma
Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care
This clinical trial studies universal screening for deoxyribonucleic acid (DNA) mismatch repair deficiency in patients with endometrial cancer, mutations in the genes responsible for Lynch syndrome (inherited forms of endometrial…
- Conditions
- Endometrial Adenocarcinoma, Endometrial Carcinoma, Lynch Syndrome, Relatives
- Trial name
- OPTEC (NCT03460483)
- Testing
- Genetic Counseling, Genetic Testing, Laboratory Biomarker Analysis
- Where
- 9 sites in United States
- Volunteers
- 1,001 people, healthy volunteers welcome
- Sponsor
- Ohio State University Comprehensive Cancer Center
Hypohidrotic Ectodermal Dysplasia
Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia (HED) is a complex genetic disorder characterized by lack of sweat glands, sparse hair, and missing or malformed teeth.
- Trial name
- NCT01109290
- Where
- Germany
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- University Hospital Erlangen
Human Immunodeficiency Virus, Acquired Immunodeficiency Syndrome
Self-Test Strategies and Linkage Incentives to Improve ART and PrEP Uptake in Men
This is a randomized controlled trial to test a combination behavioral and biomedical interventions to improve the HIV prevention and care cascades in a population of mobile men in a high priority setting (fishermen in Kenya).
- Conditions
- Human Immunodeficiency Virus, Acquired Immunodeficiency Syndrome, HIV Infections, Sexually Transmitted Diseases, Viral
- Trial name
- NCT04772469
- Testing
- Provision of multiple self-tests, Small monetary incentives, Use of SMS/text reminders to motivate adherence to ART or PrEP
- Where
- Kenya
- Volunteers
- 934 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Duchenne Muscular Dystrophy
The Evaluation of Muscle Activation in Climbing up Stairs Activity in Children With Duchenne Muscular Dystrophy
Children with Duchenne Muscular Dystrophy (DMD) have difficulties towards the end of the ambulatory period, especially in activities that require lower extremity proximal muscle strength such as walking, climbing stairs, standing…
- Trial name
- NCT04287582
- Testing
- Electromyographic device
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Skin Laxity, Gastrostomy
Effect Of High-Intensity Focused Ultrasound On Abdominal Skin Laxity Post Sleeve Gastrectomy
The purpose of the study is to evaluate the therapeutic effect of High intensity focused ultrasound in treatment of abdominal skin laxity post sleeve gastrectomy.
- Trial name
- NCT05994079
- Testing
- High intensity focused ultrasound, topical firming creams
- Where
- Egypt
- Volunteers
- 86 people, healthy volunteers welcome
- Sponsor
- Cairo University
Osteogenesis Imperfecta
Registry of Osteogenesis Imperfecta
ROI is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains…
- Trial name
- ROI (NCT04115774)
- Testing
- bisphosphonates
- Where
- Italy
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Luca Sangiorgi
Atopic Dermatitis Eczema
Effect of Ectoin Dermatitis Cream 7% on Skin Hydration and Skin Barrier Function
The aim of this prospective, uncontrolled clinical study is to evaluate the clinical effect of Ectoin® Dermatitis Cream-EHK02 on skin hydration and transepidermal water loss (TEWL) in subjects with atopic dermatitis after single…
- Trial name
- NCT04097327
- Testing
- Ectoin Dermatitis Cream 7% (EHK02)
- Where
- Germany
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Bitop AG
Sickle Cell Anemia
Sickle Cell Disease and Endothelial Progenitor Cells (EPCs)
Sickle Cell Disease (SCD) is the most prevalent genetic disease of haemoglobin.The underlying abnormality in the red blood cell (RBC) of SCD is the presence of abnormal sickle cell hemoglobin (HbS), which, when deoxygenated…
- Trial name
- DREPANOPEC (NCT00783627)
- Testing
- Angiography
- Where
- France
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cancer, Psychological Distress
Assessment Psychological Distress for Cancer Heredity Test
The study of hereditary cancer related syndromes allows reducing the risk of suffering in cancer to patients and close relatives.
- Conditions
- Cancer, Psychological Distress, Hereditary Diseases, Genetic Counseling
- Trial name
- NCT04428710
- Testing
- assessment with psychometric questionnaire
- Where
- Spain
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- Hospital Universitario La Fe
Functional Gastrointestinal Disorders
Effect of Controlled Diet Combined With a Fermented Milk Product on Gas-related Symptoms
To select among different dietary and clinical conditions the most appropriate to assess the impact of a fermented milk product on gas-related symptoms
- Trial name
- FLATBACK (NCT02936713)
- Testing
- Fermented milk product with probiotics (FMPP)
- Where
- Spain
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Danone Global Research & Innovation Center
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