Clinical trials: Chromosome Abnormalities
Infertility
Influence of a Prematuration Culture With a Phosphodiesterase-3 Inhibitor (PDE3-I) on Embryonic Aneuploidy Rate and Developmental Potential
A single centre randomised controlled trial investigating the influence of a novel prematuration system (PMS) using a phosphodiesterase-3 inhibitor for in-vitro maturation of oocytes
- Trial name
- NCT00823420
- Testing
- prematuration culture
- Where
- Belgium
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- Universitair Ziekenhuis Brussel
Down Syndrome
Action Observation Therapy on Balance in Children With Down Syndrome
Down syndrome is a condition in which a child is born with an extra copy of their 21st chromosome hence its other name is trisomy 21.
- Trial name
- NCT06198075
- Testing
- Control Group, Experimental Group
- Where
- Pakistan
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Aneuploidy
Polar Body Biopsy for Preimplantation Genetic Screening
People with infertility undergoing in vitro fertilization (IVF) can test the embryos using a method called preimplantation genetic screening (PGS) before they are implanted in the uterus to possibly increase their chances of…
- Trial name
- Polar Body (NCT01574404)
- Testing
- Polar body biopsy with PGS
- Where
- United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Down Syndrome, Speech and Language Disorder
Building Sentences With Preschoolers Who Use AAC
The focus of this investigation is to compare the effectiveness of the AAC Generative Language Intervention approach to an AAC Standard of Care condition on preschool sentence productions.
- Conditions
- Down Syndrome, Speech and Language Disorder, Speech Disorders in Children, Speech Intelligibility
- Trial name
- NCT03538925
- Testing
- AAC Generative Language Intervention, Standard of Care / Business as Usual
- Where
- 2 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Central Florida
Healthy
Open-Label, Placebo-Controlled, Parallel Group Study in Healthy Volunteers to Evaluate the Effects of Two Single MT 400 or Naproxen Sodium Tablets
This is an open-label, parallel group, single-center study. The study design consists of a screening and a treatment period. A total of 42 (approximately 21 of each sex) non-smoking healthy volunteers aged 18 - 35.
- Trial name
- NCT00596245
- Testing
- MT400
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Infertility, Aneuploidy
Time Lapse Assisted Embryo Selection Versus Non Invasive PGT-A Assisted Embryo Selection
This is a prospective randomised study of the evaluation of the clinical IVF results after time lapse assisted embryo selection versus Non-invasive PGT-A assisted embryo selection in subfertile women.
- Conditions
- Infertility, Aneuploidy, Chromosome Abnormality
- Trial name
- NCT05545995
- Testing
- embryo selection
- Where
- Greece
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Assisting Nature
Trisomy 21
Non-invasive Screening of Fetal Trisomy 21 by Digital PCR
In France, as in many countries of the world, trisomy 21 or Down syndrome (DS) is the subject of an antenatal screening based on a risk calculation (R) including the assay of biochemical markers in the maternal blood, and the…
- Trial name
- dPNI-T21 (NCT03687866)
- Testing
- non invasive prenatal testing
- Where
- France
- Volunteers
- 776 people, healthy volunteers welcome
- Sponsor
- University Hospital, Caen
Down Syndrome
Treatment of Sleep Disturbances in School-age Children With Down Syndrome
The investigators long-term goal is to improve outcomes for children with Down syndrome (DS) and their caregivers. Towards that goal, the investigators propose a randomized clinical trial of a behavioral sleep treatment designed…
- Trial name
- NCT02996175
- Testing
- Behavioral Sleep Treatment, Standard of care sleep treatment enhanced with psychoeducation
- Where
- United States
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Osteoporosis
Skeletal Health of Klinefelter Patients
This study compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers.
- Trial name
- NCT03704987
- Testing
- dual-energy X-ray absorptiometry
- Where
- Turkey (Türkiye)
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- TC Erciyes University
Turner Syndrome, Infertility, Female
Turner Syndrome Minipuberty Study
Rationale: Due to accelerated germ cell loss, infertility is a major problem in girls with Turner syndrome (TS). Therefore, cryopreservation of ovarian tissue or oocytes before exhaustion of the ovarian reserve may preserve…
- Conditions
- Turner Syndrome, Infertility, Female, Premature Ovarian Failure, Gonadal Dysgenesis
- Trial name
- Minipuberty (NCT04189406)
- Testing
- Venapunction
- Where
- 13 sites in Denmark, Germany and 3 more
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Congenital Heart Disease
Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown.
- Trial name
- NCT01192048
- Testing
- Blood Sample Collection
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
Embryo Aneuploidies
Embryo Aneuploidies and Ovarian Stimulation
There is a considerable concern about the effects of controlled ovarian hyperstimulation (COH) for In Vitro Fertilization- Embryo Transfer (IVF-ET) on embryo quality and on the incidence of chromosomal abnormalities in oocytes…
- Trial name
- NCT00707525
- Testing
- Preimplantation Genetic Diagnosis
- Where
- Spain
- Volunteers
- healthy volunteers welcome
- Sponsor
- Instituto Valenciano de Infertilidad, IVI VALENCIA
Prader Willi Syndrome, Obesity
Correlation of Hyperghrelinemia With Carotid Artery Intima-Media Thickness in Children With Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a genetic disorder characterized by childhood-onset obesity and endocrine dysfunction that leads to cardiovascular disability and early death within the first 3 decades of life.To assess the…
- Trial name
- NCT00474643
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Fragile X Syndrome
Effect of CBD on the Brain
This proposal focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD).
- Trial name
- NCT06261450
- Testing
- CBD Oral Solution (eCBD system Target)
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Université de Sherbrooke
Autosomal Recessive Disorder, Aneuploidy
Prenatal Computer-Aided Genetics Education Module
A standard part of obstetrical care is offering prenatal genetic screening. Numerous professional guidelines have emphasized the importance of pretest counseling for prenatal genetic screenings.
- Trial name
- CAGEM (NCT03449225)
- Testing
- Computer-Aided Genetic Education Module
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Wayne State University
Posture, Balance
Training Balance Among People With Neurodevelopmental Disabilities
This study is a case control pilot study to investigate the impact of a short-term intervention on training anticipatory postural adjustments in a population of people with neurodevelopmental disabilities.
- Conditions
- Posture, Balance, Cerebral Palsy, Autism
- Trial name
- TAPAS (NCT04293120)
- Testing
- Training with weighted ball
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- University of Hartford
Aneuploidy, Pregnancy Complications
Use of a Novel Computerized Decision Aid for Prenatal Aneuploidy Screening
The investigators aim to assess whether use of a novel, tablet-based computerized decision aid for aneuploidy screening is similar to routine care with a brief genetic counseling visit in improving patient knowledge and…
- Trial name
- DAAS (NCT02991729)
- Testing
- iPad-based decision aid, Genetic counseling appointment
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Down Syndrome, SARS-CoV-2 Vaccination
Prospective Monitoring of Antibody Response Following COVID-19 Vaccination in Patients With Down Syndrome.
The risk of severe course of SARS-CoV-2 infection in people with Down Syndrome is substantially increased. The risk of death is 3-10 fold higher than in healthy people.
- Trial name
- PRIDE (NCT05145348)
- Testing
- Immune response to Sars-CoV-2 vaccinations; including COVID-19 vaccin Moderna, Comirnaty (Pfizer) and Vaxzevria (AstraZeneca)
- Where
- Netherlands
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- UMC Utrecht
Prader Willi Syndrome, Hyperphagia
Functional Connectome in Prader-Willi Syndrome: Neuroimaging and AI to Assess Therapeutic Impact
The goal of this observational study is to explore brain network changes and identify patterns related to hyperphagia, hormonal treatment effects, and cognitive deficits in adults with Prader-Willi Syndrome (PWS).
- Conditions
- Prader Willi Syndrome, Hyperphagia, Behavior Disorders
- Trial name
- NCT06900335
- Testing
- GH treatment (Somatropin), Eating
- Where
- Spain
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Corporacion Parc Tauli
Down Syndrome, Prenatal Stress
Amniotic Fluid Ischemia Modified Albumin as a Novel e Prenatal Diagnostic Marker for Down Syndrome
Down syndrome is the most common genetic disorder in the society that causes mental retardation. Today, screening tests (combined test, triple screening, ultrasonography and age) are performed for the diagnosis of down syndrome…
- Conditions
- Down Syndrome, Prenatal Stress, Cytokines
- Trial name
- NCT04293380
- Testing
- amniosyntesis
- Where
- Turkey (Türkiye)
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- Karadeniz Technical University