Clinical trials: Genetic Syndrome
Wilson's Disease
A Registered Cohort Study on Wilson's Disease
The aim of this study is to determine the clinical spectrum and natural progression of Wilson's Disease in a prospective multicenter natural history study, to assess the clinical, genetic, epigenetic features and biomarkers of…
- Trial name
- NCT04012658
- Testing
- No intervention
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Wan-Jin Chen
Healthy Lifestyle, Obese
Project 1: Diet and Exercise Modulate the Sperm Epigenome in Men
This is a rigorous, controlled clinical trial designed to show that diet, exercise training, and their combination in overweight, inactive men will alter epigenetic programming to create a "healthy" sperm epigenome.
- Conditions
- Healthy Lifestyle, Obese, Men
- Trial name
- NCT04175678
- Testing
- Diet, Exercise, Standard care
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Myotonic Dystrophy 1, DM1
The Spanish National Registry for Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 1 (DM1) is a rare genetic neuromuscular condition that can affect multiple organs and varies widely in how it presents.
- Conditions
- Myotonic Dystrophy 1, DM1, Myotonic Dystrophy Type 1, Myotonic Dystrophy, Congenital
- Trial name
- DM1-Hub (NCT07385443)
- Testing
- Patient Registry
- Where
- 8 sites in Spain
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Fundació Institut Germans Trias i Pujol
Turner's Syndrome
An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG
Children with growth failure due to inadequate secretion of growth hormone or growth retardation due to Turner's syndrome are individually dosed and treated for 12 weeks
- Trial name
- NCT00250250
- Testing
- ZOMACTON
- Where
- 6 sites in Czechia, France and 1 more
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Ferring Pharmaceuticals
Fed
Bioavailability Study of Desloratadine 5 mg Tablet of Dr. Reddy's Under Fed Conditions
The purpose of this study is to compare the rate and extent of absorption of Dr. Reddy's Desloratadine 5 mg tablet to that of Clarinex® 5 mg tablet in healthy subjects under fed conditions.
- Trial name
- NCT01314352
- Testing
- Desloratadine
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
Sickle Cell Disease
Hybrid Effectiveness-Implementation Trial of Guided Relaxation and Acupuncture for Chronic Sickle Cell Disease Pain
The investigators will conduct a hybrid type 1 effectiveness implementation trial to assess the effectiveness of acupuncture and guided relaxation on 360 people with Sickle Cell Disease (SCD), while observing and gathering…
- Trial name
- GRACE (NCT04906447)
- Testing
- Guided Relaxation, Acupuncture
- Where
- 5 sites in United States
- Volunteers
- 379 people, healthy volunteers welcome
- Sponsor
- University of Illinois Chicago
Nephrotic Syndrome Steroid-Dependent, Nephrotic Syndrome Steroid-Resistant
Biomarkers and Outcome Predictors of Pediatric Nephrotic Syndrome: A Genetic, Transcriptomic, and Secretome Multiomics Study
Idiopathic Nephrotic Syndrome is a rare disease of the kidneys, which typically affects children. For most affected children there is the need of a prolonged treatment with drugs reducing the activity of the immune system, also…
- Conditions
- Nephrotic Syndrome Steroid-Dependent, Nephrotic Syndrome Steroid-Resistant, Nephrotic Syndrome in Children, Glomerulonephritis
- Trial name
- PRECISE (NCT06792448)
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Dilated Cardiomyopathy
Dilated Cardiomyopathy-Cardiac Magnetic Resonance (DCM-CMR) Ancillary Study
The Dilated Cardiomyopathy-Cardiac Magnetic Resonance (DCM-CMR) Study is an ancillary study from the parent study, DCM Precision Medicine Study.
- Trial name
- NCT04638621
- Where
- United States
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- Ohio State University
Atopic Dermatitis, Allergy
Bathing Babies and Allergy
Atopic dermatitis (AD) is a chronic allergic skin disease with onset in early childhood and increasing prevalence in Westernized countries. Current well newborn guidelines for washing babies with soap were adopted by U.S.
- Trial name
- BBA (NCT03050658)
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Sickle Cell Disease, Pain
Integrative Medicine in Pain Management in Sickle Cell Disease, 2.0
The proposed research is to determine the clinical efficacy and neurobiological mechanisms of acupuncture analgesia in patients with sickle cell disease.
- Conditions
- Sickle Cell Disease, Pain, Acupuncture, Quantitative Sensory Testing
- Trial name
- NCT06725550
- Testing
- needling acupuncture, laser acupuncture
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of Cincinnati
Phenylketonurias
The Effect of Nursing Empowerment Program
The study has shown that the strengthening program applied to the families of children diagnosed with phenylketonuria (PKU) and the education given; It will be conducted in order to examine the effect of the family's coping…
- Trial name
- NCT05497050
- Testing
- Family education
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Cukurova University
Benign Breast Disease
Nuclear Morphology of Breast Cells in Ductal Lavage
Breast nipple aspirate fluids (NAF) are useful for non-invasive monitoring of the breast. NAF has been shown to exhibit large inter-individual differences in lipid peroxidation.
- Trial name
- NCT00259597
- Testing
- breast ductal lavage
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Phenylketonuria
GenSci144 Tablets Phase I Clinical Trial
This study is a Phase I single ascending dose clinical trial in which healthy adult volunteers were administered single oral doses of GenSci144 tablets at different levels.
- Trial name
- NCT07685210
- Testing
- GenSci144 tablets
- Where
- China
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Changchun GeneScience Pharmaceutical Co., Ltd.
Gout, Acute Gout Flare
A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Oral ABP-745 Administration in Healthy Volunteers
A randomized, double-blind, placebo-controlled, dose-escalation study will be conducted in healthy volunteers. This study will evaluate the safety, tolerability, and pharmacokinetics (PK) of ABP-745 following single (Part 1) and…
- Conditions
- Gout, Acute Gout Flare, Gout Flares
- Trial name
- ABP-745 (NCT06258213)
- Testing
- ABP-745
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Atom Therapeutics Co., Ltd
Alzheimer Disease, Down Syndrome
Rocky Mountain Alzheimer's Disease Center Longitudinal Biomarker and Clinical Phenotyping Study
This study plans to establish a large bank of blood, cerebral spinal fluid (CSF), imaging, and clinical data. These data and samples will be used for future research into the causes of Alzheimer's disease (AD), Down Syndrome (DS)…
- Conditions
- Alzheimer Disease, Down Syndrome, Mild Cognitive Impairment
- Trial name
- NCT02612376
- Where
- United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Duchenne Muscular Dystrophy
Electrical Impedance Myography and Ultrasound as Biomarkers of Duchenne Muscular Dystrophy
Researchers at Children's Hospital Boston Neurology Department invite children to participate in a new research study. Researchers are looking for boys ages 2 - 30 with Duchenne Muscular Dystrophy (DMD) and healthy boys ages 2 …
- Trial name
- QED (NCT01491555)
- Where
- United States
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Obesity
Low Carb Diets & Exercise for Cardiovascular Disease (CVD) Reduction
The purposes of this study are: To investigate the effects of a 6 month low carbohydrate diet in obese men on markers of heart health including blood fats, blood clotting factors, inflammatory markers and levels of body fat.
- Trial name
- NCT01176084
- Testing
- low carbohydrate diet, low carbohydrate diet and exercise
- Where
- United Kingdom
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University of Surrey
Photoaging, Weight Loss
Evaluation of the Effects of a Biostimulator and Dermal Fillers for Cheek Augmentation and Contour Deficiencies
Adult subjects with a history of or currently taking glucagon-like peptide-1 (GLP-1) receptor agonist medication and moderate-to-severe cheek wrinkles and midface contour deficiencies will be treated with Sculptra correction of…
- Conditions
- Photoaging, Weight Loss, Skin Laxity, Photodamaged Skin
- Trial name
- NCT06351358
- Testing
- Sculptra treatment, Restylane Treatment
- Where
- 2 sites in United States
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Galderma R&D
Hearing Loss, Genetic Disease
Auditory Restoration and Outcomes After Gene Therapy and Cochlear Implantation: a PRospective Cohort Analysis (AURORA)
This cohort study aims to explore the trends and differences in multidimensional perceptual levels of patients after cochlear implants or gene therapy, as well as to comprehensively assess the efficacy of gene therapy for…
- Conditions
- Hearing Loss, Genetic Disease, Speech Perception
- Trial name
- NCT06237790
- Where
- 6 sites in China
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Eye & ENT Hospital of Fudan University
Genetic Disease, Inherited Disease
Adaptive Optics Retinal Imaging in Inherited and Acquired Retinal Disorders
This is a Prospective Observational study. The aim of the study is to understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations in inherited and acquired retinal disorders.
- Trial name
- NCT05386134
- Testing
- Adaptive Optics Retinal Camera
- Where
- Canada
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
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