Clinical trials: Chromosome Abnormality
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
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)
Complex Aneuploidy, Chaotic Aneuploidy
Evaluating the Status of Complex Aneuploidy to Locate Additional Transferrable Embryos
This study aims to evaluate the reproductive potential of embryos classified as "complex aneuploid" (involving three or more abnormal chromosomes) or "chaotic" (six or more abnormal chromosomes) through preimplantation genetic…
- Trial name
- ESCALATE (NCT07227116)
- Where
- 12 sites in United States, Chile
- Volunteers
- 280 people, healthy volunteers welcome
- Sponsor
- Shady Grove Fertility Reproductive Science Center
22q11.2 Deletion Syndrome
Understanding of Psychotic Disorders in Children With 22q11.2DS
The study PremiCeS22 will investigate the prodromal signals at the onset of psychotic disorders of children with 22q11.2 deletion syndrome
- Trial name
- PremiCeS22 (NCT04639388)
- Testing
- neuropsychological testing, questionnaires and experimental tasks
- Where
- France
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier
Prader-Willi Syndrome
Respiratory Restriction in Prader-Willi Syndrome
The main aim of this study is therefore to evaluate the impact of Prader Willi Syndrome (PWS) on lung and thoracoabdominal volumes, respiratory muscle strength and awake ventilatory pattern, and to quantify and localize the…
- Trial name
- RESPIPWS (NCT06851351)
- Testing
- Spirometry and optoelectronic plethysmography
- Where
- Italy
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Istituto Auxologico Italiano
Down Syndrome
Physical Fitness in DS: A Comparison of Cuevas Medak and Rebound Exercises
This randomized clinical trial investigates the comparative effects of Cuevas Medak Exercises Vs Rebound Exercises on physical fitness in DS.
- Trial name
- DownSyndrome (NCT07248449)
- Testing
- Cuevas Medak Exercises
- Where
- Pakistan
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Healthy Volunteers, Down Syndrome
Leucettinib-21 First-in-Human Phase 1 in Healthy Volunteers and Subjects With Down Syndrome and Alzheimer's Disease
Leucettinib-21 First-in-Human Phase 1 Study in 6 Parts: Single (Part 1 and 5) and Multiple (Part 3 and 6) Ascending Doses, and Food-Effect (Part 2) in Healthy Subjects, and Single Dose (Part 4) in People with Down Syndrome (DS)…
- Conditions
- Healthy Volunteers, Down Syndrome, Alzheimer's Disease
- Trial name
- LEUCETTA (NCT06206824)
- Testing
- Leucettinib-21
- Where
- France
- Volunteers
- 152 people, healthy volunteers welcome
- Sponsor
- Perha Pharmaceuticals
Chromosome Aberrations
The Relationship Between Fetal Membrane Thickness and Fetal Chromosomal Aneuploidies
This observational study aims to recruit pregnant women between 18 to 24 weeks of gestation to investigate the relationship between amniotic membrane thickness and fetal chromosomal abnormalities.
- Trial name
- PLACE2102 (NCT06141213)
- Testing
- Ultrasound screening
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Tianjin Central Hospital of Gynecology Obstetrics
Pregnant Women Requiring Amniocentesis
Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Losses of imprinting are involved in various syndromes. Those occurring in the 11p15 region lead to Beckwith-Wiedemann and Silver-Russell Syndromes.
- Trial name
- DASIRUWIBE (NCT01842659)
- Testing
- Methylation Index
- Where
- France
- Volunteers
- 67 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Down Syndrome
Feasibility and Dose Tolerability of HD-tDCS in Healthy Adults and Children With Down Syndrome
Transcranial direct current stimulation (tDCS) is a method which enables noninvasive electrical stimulation of the cortex via electrodes placed on the subject's skull.
- Trial name
- NCT02481765
- Testing
- High definition transcranial direct current stimulation
- Where
- United States
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Madison
Down Syndrome, Trisomy 21
Down Syndrome Metabolic Health Study
The purpose of this research study is to determine which measures best capture cardiovascular disease (CVD) risk and type 2 diabetes (T2DM) risk in children and adolescents with Down syndrome (DS).
- Trial name
- NCT01821300
- Where
- 2 sites in United States
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Down Syndrome
Motor Learning Through Virtual Reality Task in Individuals With Down Syndrome
Background: Down syndrome (DS) has unique physical, motor and cognitive characteristics. Despite cognitive and motor difficulties, there is a possibility of intervention based on the knowledge of motor learning.
- Trial name
- NCT02719600
- Testing
- Virtual reality
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Infertility, Chromosome Abnormality
Embryo Selection by Noninvasive Preimplantation Genetic Test
The objective of this study is to explore whether non-invasive chromosome screening (NICS) can be used as an effective indicator for embryos selection besides morphology through a multicenter randomized controlled trial, by…
- Trial name
- ESNi-PGT (NCT04339166)
- Testing
- Non-invasive chromosome screening（NICS）
- Where
- 13 sites in China
- Volunteers
- 1,152 people, healthy volunteers welcome
- Sponsor
- Peking University Third Hospital
Infertility
The Cytogenetic Constitution of Embryos Resulting From Immature Oocytes (M1)
To examine the chromosomal number content in the blastomeres of embryos achieved from fertilization of immature oocytes at MI stage recruited following COH for IVF.
- Trial name
- NCT00544531
- Where
- Israel
- Volunteers
- 23,907 people, healthy volunteers welcome
- Sponsor
- Assaf-Harofeh Medical Center
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
Alzheimer's Disease, Mild Cognitive Impairment
Retinal Imaging in Neurodegenerative Disease
This study aims to develop and evaluate biomarkers using non-invasive optical coherence tomography (OCT) and OCT angiography (OCTA) as well as ultra-widefield (UWF) fundus photography to assess the structure and function of the…
- Conditions
- Alzheimer's Disease, Mild Cognitive Impairment, Parkinson's Disease, Multiple Sclerosis
- Trial name
- NCT03233646
- Testing
- Retinal and Choroidal Imaging
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Duke University
Down Syndrome
Swiss Ball Versus Frenkel Exercises Effects in Down Syndrome
Down syndrome (or trisomy 21) is the most common genetic cause of intellectual disability, occurring in an estimated 1 in 800 births worldwide.
- Trial name
- NCT06732713
- Testing
- Swiss Ball, Frenkel exercise
- Where
- Pakistan
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Chromosome Disorders
Melatonin Levels in Smith Magenis Syndrome (SMS)
The goal of this pilot project is to determine whether melatonin levels are disordered in patients with Smith-Magenis Syndrome (SMS) and whether melatonin treatment can correct abnormal circadian rhythms in SMS patients.
- Trial name
- NCT00691574
- Testing
- Melatonin, Enviro-light artificial light box
- Where
- United States
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Down's Syndrome
Treadmill Training With and Without Weighted Ankle Cuffs on Gait Parameters
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small "packages" of genes in the body. Down syndrome (DS), also known as trisomy 21, is caused by the presence of all or part of a third copy…
- Trial name
- NCT06176755
- Testing
- Treadmill training with weighted ankle cuffs, Treadmill training
- Where
- Pakistan
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Aneuploidy, Pregnancy
The Effect of Co Enzyme Q10 Together With Fertility Drugs on Pregnancy Outcome of in Vitro Fertilization
The goal of our research is to increase live birth rates in infertile women and to reduce the incidence of aneuploidy leading to miscarriage and trisomies.
- Conditions
- Aneuploidy, Pregnancy, Miscarriage
- Trial name
- CoQ10-IVF (NCT01048385)
- Testing
- Coenzyme Q10 concomitant treatment
- Where
- Canada
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- University of Toronto