Clinical trials: Multiple Anomalies
Trisomy 21
Down Syndrome Screening Based on Dried Blood Spots and Cell-free Fetal DNA
There are 26,600 Down Syndrome newborns every year in China. The economic burden of this disease is 65,000 USD for lifetime of every patient.
- Trial name
- DBS&CFF (NCT01837979)
- Testing
- cell-free fetal DNA
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Jaundice, Neonatal
Associations of Nighttime Light Exposure During Pregnancy With Neonatal Jaundice：a Multi-centre Prospective Study in China
Make a neonatal jaundiced nomogram on Chinese jaundice data by joinning the major neonate centers all around China.
- Trial name
- jaundice (NCT03805165)
- Where
- China
- Volunteers
- 2,977 people, healthy volunteers welcome
- Sponsor
- Guangdong Women and Children Hospital
Down Syndrome
Blood Flow Regulation in Individuals With Down Syndrome - Training Study
Work capacity is an important predictor of declining health or physical function, and of mortality, and is commonly measured as peak oxygen consumption.
- Trial name
- NCT04854122
- Testing
- Combined exercise intervention
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Nevada, Las Vegas
Cystic Fibrosis, Asthma
Measures of Respiratory Health (MRH)
The Lung Clearance Index, measured by multiple breath washout, is a measure of lung function that is considered a research tool in Canada as the device used to measure it is not approved by Health Canada.
- Conditions
- Cystic Fibrosis, Asthma, Sickle Cell Anemia, Bronchiolitis Obliterans
- Trial name
- MRH (NCT02657837)
- Where
- Canada
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
Hypertriglyceridemia, Familial Hypercholesterolemia
Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of IONIS ANGPTL3-LRx in Healthy Volunteers With Elevated Triglycerides and Participants With Familial Hypercholesterolemia
The purpose is to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of IONIS ANGPTL3-LRx (ISIS 703802) given to healthy volunteer subjects with elevated triglycerides and subjects with familial…
- Trial name
- NCT02709850
- Testing
- IONIS ANGPTL3-LRx
- Where
- Canada
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Ionis Pharmaceuticals, Inc.
Down Syndrome, Activity
Activities and Participation of Children With Down Syndrome
The aim of this study is to examine the activity participation levels of Down syndrome(DS) children and the restrictive or supportive factors affecting their participation levels and to investigate their effects on quality of…
- Conditions
- Down Syndrome, Activity, Participation, Quality of Life
- Trial name
- NCT05152251
- Testing
- Evaluation
- Where
- Turkey (Türkiye)
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Down Syndrome
Effect of Whole Body Vibration Versus Core Stability Exercises on Balance and Muscle Strength in Children With Down Syndrome
Children had Down syndrome often have impaired balance and postural control and result as less active than their peers that can lead to reduced quality of life and movement skills.
- Trial name
- NCT06036069
- Testing
- Conventional physical therapy
- Where
- Egypt
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Ragaee Saeed Mahmoud
Down Syndrome
Correlation Between Optic Nerve Vessel Anomalies, Serum Angiogenic Factors and Renal Anomalies in Down Syndrome Children
In approximately half of individuals with Down syndrome, an higher than normal number of vessels cross the optic disc margin. Investigator hypothesize that early retinal vessel branching occurs due to inhibition of angiogenesis…
- Trial name
- DOPANUR (NCT03206957)
- Testing
- Funduscopic examination and retinal photography, Serum levels of endostatin and angiogenesis factors, Renal and low urinary tract Doppler ultrasound
- Where
- Belgium
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Queen Fabiola Children's University Hospital
Prader-Willi Syndrome
GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition
Prader-Willi syndrome (PWS) is a genetic disorder associated with growth hormone (GH) deficiency, central hypotonia and hyperphagia that leads to life-threatening obesity.
- Trial name
- NCT03616509
- Testing
- Growth hormone
- Where
- Spain
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Corporacion Parc Tauli
Phenylketonuria
First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria
The goal of Parts A and B of this Phase 1/2, first-in-human, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of single (SAD) and multiple (MAD) ascending doses of oral JNT-517 in healthy…
- Trial name
- NCT05781399
- Testing
- JNT-517 Suspension, JNT-517 Tablet
- Where
- 15 sites in United States, Australia
- Volunteers
- 163 people, healthy volunteers welcome
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
POEMS Syndrome, Hemostatic Disorder
To Evaluate Efficacy of Red Dichromatic Imaging (RDI) in Achieving Hemostasis During POEM Using GF 1500 UGI Scope
Peroral endoscopic myotomy (POEM) is a novel endoscopic technique for the treatment of achalasia and other esophageal motility disorders. Initially, it was introduced to the world by Inoue et al.
- Trial name
- RDIH-01 (NCT05476458)
- Testing
- White Light Imaging, Red Light Imaging
- Where
- 2 sites in India
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Asian Institute of Gastroenterology, India
Haemophilia A
A Research Study Looking at How Different Doses of Study Medicine (Inno8) Work in the Body of People With Haemophilia A
This study will test how different doses of study medicine (Inno8) work in the bodies of people with haemophilia A. The purpose of the study is to see if Inno8 is safe to use for people with haemophilia A.
- Trial name
- VOYAGER2 (NCT07220564)
- Testing
- NNC0442-0344 A
- Where
- 33 sites in United States, Austria and 10 more
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Novo Nordisk A/S
Down's Syndrome, Fine Motor Skills
Effect of Virtual Video Reality Gaming on Fine Motor Skills in Children With Down's Syndrome
Down's syndrome is genetic disorder caused by trisomy 21. Children with Down's syndrome are characterized by awkward movements, gait, increased flexibility of joints, timing of mastering of basic skills, under development of fine…
- Trial name
- NCT05392322
- Testing
- Self-help skills, Virtual video reality gaming
- Where
- Pakistan
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Imaged Breast Abnormalities
Percutaneous Excision Trial
To confirm that a definitive diagnosis can be made from the tissue sample collected using the Intact BLES when defined radiology and pathology criteria are met.
- Trial name
- I-PET (NCT00720642)
- Where
- 24 sites in United States
- Volunteers
- 1,170 people, healthy volunteers welcome
- Sponsor
- Intact Medical Corporation
Overweight and Obesity, Men
Evaluation of a Supplement for Weight Management in Obese and Overweight Individuals
The purpose of this trial is to examine the effects of a novel, orally consumed dietary supplement (composed of naturally occurring components) on weight management and metabolic rate in individuals who are overweight or obese…
- Conditions
- Overweight and Obesity, Men, Women
- Trial name
- NCT03812211
- Testing
- Active Supplement
- Where
- Canada
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- McMaster University
Primary Ciliary Dyskinesia, Caries,Dental
Assessment of Oral Health Status of Children With Primary Ciliary Dyskinesia
The aim of this study is to compare the oral health findings, salivary parameters and pediatric oral health related quality of life of children with Primary Ciliary Dyskinesia (PCD) with healthy children
- Conditions
- Primary Ciliary Dyskinesia, Caries,Dental, Quality of Life, Saliva Altered
- Trial name
- NCT06618209
- Testing
- physical and chemical methods, biochemical methods, Oral Findings
- Where
- Turkey (Türkiye)
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Marmara University
Healthy Subject
HPV Vaccine Intervention for Young Sexual Minority Men
This phase III trial studies how well the Outsmart HPV intervention works in increasing HPV vaccine initiation and completion among young individuals who report having a history of same-sex partners, being sexually attracted to…
- Trial name
- NCT04032106
- Testing
- Best Practice, Informational Intervention, Questionnaire Administration
- Where
- 2 sites in United States
- Volunteers
- 1,227 people, healthy volunteers welcome
- Sponsor
- Ohio State University Comprehensive Cancer Center
Down Syndrome, Trisomy 21
Learning by Repetitive Viewing of Peer Modeling Patient Education Videos by Adults With Down Syndrome
The learning of appropriate hand washing technique through repetitive watching of a video depicting an adult with DS washing his hands will be studied.
- Trial name
- NCT03551418
- Testing
- Watching a video
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Tuberous Sclerosis, Autism Disorder
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive…
- Conditions
- Tuberous Sclerosis, Autism Disorder, Intellectual Disability
- Trial name
- NCT02461459
- Where
- 6 sites in United States
- Volunteers
- 205 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Weight Loss
Engaging Rural Men With Mobile Technologies for Weight Loss
Overweight and obese men in rural Northeast Nebraska are an unrepresented, at-risk group exhibiting rising rates of cardiovascular disease, poor access to preventive care, and a rural milieu that contributes to their sedentary…
- Trial name
- NCT03329079
- Testing
- Mobile Technology Plus, Mobile Technology
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Nebraska