Clinical trials: Chromosome Disorders
Chromosomal Aneuploidies (e.g., Trisomy 21, Trisomy 18, Trisomy 13); Prenatal Screening Accuracy
Evaluation of Fetal Bladder Emptying During the 11-14 Weeks' Ultrasound Examination as a Negative Predictive Marker for Chromosomal Abnormalities
Template-Based Brief Summary (Sağlık Profesyonelleri İçin) Study Title: The Negative Predictive Value of First-Trimester Fetal Bladder "Rapid Emptying" (≤40 minutes and post-void ≤2 mm) for Major Chromosomal Aneuploidies: A…
- Trial name
- NCT07165743
- Testing
- 40-Minute Real-Time First-Trimester Ultrasonography
- Where
- Turkey (Türkiye)
- Volunteers
- 270 people, healthy volunteers welcome
- Sponsor
- Haseki Training and Research Hospital
Turner Syndrome, Cardiovascular Diseases
Lymphedema, Low-grade Inflammation and the Vasculature in Turner Syndrome
100 women with karyotype verified TS, previously examined at 4 study visits during a 19-year period will be asked to participate in a 5th study visit. Healthy age-matched females will be included as controls in a ratio 2:1.
- Conditions
- Turner Syndrome, Cardiovascular Diseases, Lymphedema, Inflammation
- Trial name
- TSCOR_V (NCT06325618)
- Testing
- No intervention other than obtaining biopsies, Indocyanine green (ICG)
- Where
- Denmark
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Infertility
Chromosomal and Morphological Structure of Mature and Immature Male Germ Cells and Recognition of IL-18 in Testicular Tissue of Azoospermic Men
To develop a biotechnological assay which will be able to recognize germ cells of the spermatogenic lineand and to identify the chromosomal and morphological structure of mature and immature male germ cells, in cases of of sperm…
- Trial name
- NCT00544089
- Where
- Israel
- Volunteers
- 25,907 people, healthy volunteers welcome
- Sponsor
- Assaf-Harofeh Medical Center
Parkinson Disease, Huntington Disease
A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions
Measurement of metabotropic glutamate receptor type 5 (mGluR5) binding capacity in the brain, may be a valuable tool in the early detection, understanding, or evaluation of Parkinson disease (PD), Huntington disease (HD), Fragile…
- Conditions
- Parkinson Disease, Huntington Disease, Autistic Spectrum Disorders, Fragile X Syndrome
- Trial name
- FPEB (NCT00870974)
- Testing
- [18F]FPEB
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Institute for Neurodegenerative Disorders
Down Syndrome
Effects of Vojta Therapy on Functional Mobility and Gait Parameters in Children With Down Syndrome
This randomized clinical trial investigates the effects of Vojta therapy on functional mobility and gait parameters in children with down syndrome.
- Trial name
- NCT07248267
- Testing
- Vojta Therapy, repetitive sensorimotor exercises
- Where
- Pakistan
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Down Syndrome, Chromosome Abnormalities
Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters
Too much or too little genetic information (chromosome material) can cause abnormal development of the fetus or death. Each year approximately 2.5 million pregnant women are screened for Down Syndrome using invasive screening…
- Trial name
- NCT00006445
- Testing
- Ultrasound, Serum screen
- Where
- 10 sites in United States
- Volunteers
- 38,000 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative
Combination Chemotherapy With or Without Blinatumomab in Treating Patients With Newly Diagnosed BCR-ABL-Negative B Lineage Acute Lymphoblastic Leukemia
This randomized phase III trial studies combination chemotherapy with blinatumomab to see how well it works compared to induction chemotherapy alone in treating patients with newly diagnosed breakpoint cluster region (BCR)-c-abl…
- Trial name
- NCT02003222
- Testing
- Allogeneic Hematopoietic Stem Cell Transplantation, Biospecimen Collection, Blinatumomab
- Where
- 544 sites in United States, Canada and 2 more
- Volunteers
- 488 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Down Syndrome, Congenital Heart Disease
Congenital Heart Disease: Impact on Learning and Development in Down Syndrome (CHILD-DS)
The study objective is to compare neurodevelopmental (ND) and behavioral outcomes between children with Down syndrome (DS) who had complete atrioventricular septal defect (CAVSD) repair and children from the same clinical sites…
- Trial name
- CHILD-DS (NCT05312177)
- Testing
- Stanford Binet Intelligence Scales, Fifth Edition, Vineland Adaptive Behavior Scales Third Edition, Peabody Picture Vocabulary Test, Fifth Edition
- Where
- 14 sites in United States, Canada
- Volunteers
- 273 people, healthy volunteers welcome
- Sponsor
- Carelon Research
Down Syndrome, Patau Syndrome
Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies
The purpose of this study is to evaluate the performance of the IONA® test which is a non-invasive prenatal test (NIPT) for Down's syndrome and other chromosomal abnormalities in twin pregnancies, from a maternal blood sample.
- Conditions
- Down Syndrome, Patau Syndrome, Edward's Syndrome
- Trial name
- TWIN (NCT03200041)
- Testing
- Blood sample
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Premaitha Health
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
Down Syndrome
Remote Exercise Study for Individuals With Down Syndrome
This pilot study aims to test whether remote delivery of the exercise intervention provides a sufficient training stimulus. This pilot study will be remote and online-only, and will have no in-person interaction, data collection…
- Trial name
- NCT04647851
- Testing
- Remote exercise intervention Down syndrome
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Nevada, Las Vegas
Gonadal Dysgenesis, Turner's Syndrome
The Effects of Estrogen on Cognition in Girls With Turner Syndrome
The development of the brain in females is a result of a combination of factors. During puberty estrogen plays a role in influencing brain development.
- Trial name
- NCT00001253
- Testing
- cognitive tests and scales
- Where
- United States
- Volunteers
- 950 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Chronic Myelomonocytic Leukemia
The Expression of PTEN Protein and mRNA in Malignant Cells of Chronic Myelomonocytic Leukemia
The purpose of this study is to evaluate the level of a specific protein (PTEN) in the cancer cells of chronic myelomonocytic leukemia (CMML) patients.
- Trial name
- NCT01010256
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- University of Arkansas
Turner Syndrome
Sex Differences in Early Brain Development; Brain Development in Turner Syndrome
Relative risk for many psychiatric disorders differs dramatically in males and females. Early-onset disorders, such as autism, occur more often in males; other conditions, such as schizophrenia, occur at similar rates in males…
- Trial name
- NCT00877942
- Where
- United States
- Volunteers
- 295 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
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
Physical Conditioning, Human
Effect of Rhythmic Gymnastics Training in Children With Down Syndrome
Some of the clinical characteristics of people with Down syndrome (DS) are orthopedic, cardiovascular, neuromuscular, visual, cognitive and perceptual disorders, which directly affect the quality of their movements.
- Trial name
- NCT06284707
- Testing
- swimming training, rhythmic gymnastics training
- Where
- Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Castilla-La Mancha
Turner Syndrome
Beta Cell Function in Women With Turner Syndrome
Diabetes is more frequent in women with Turner syndrome. The purpose of this study is to see, in what ways the glucose metabolism is different in this study population.
- Trial name
- NCT00419107
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Developmental Disability, Development Delay
Early Detection of Children With Developmental Disabilities in Assiut Governorate
The study aimed to determine the effectiveness of a designed training program for nurses toward early detection of developmental disabilities among children (0-3 years).
- Conditions
- Developmental Disability, Development Delay, Motor Delay, Down Syndrome
- Trial name
- NCT06263777
- Testing
- Nurses training program on early detection of disability
- Where
- Egypt
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Beni-Suef University
Autism, Fragile-X Syndrome (FXS)
Glutaminergic Transmission in Autism : Molecular Imaging Exploration
Glutamatergic transmission exploration using PET (Positron Emission Tomography) imaging in autism compared to Fragile-X Syndrome ( FXS) and Healthy Volunteers
- Conditions
- Autism, Fragile-X Syndrome (FXS), Healthy Volunteers
- Trial name
- TANGAU (NCT02719951)
- Testing
- [18F]FPEB PET imaging, Biological samples, MRI
- Where
- France
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- University Hospital, Tours