Clinical trials: Chromosome Disorders
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
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
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 - pilot study.
- Trial name
- NCT00822874
- Testing
- prematuration culture
- Where
- Belgium
- Volunteers
- 115 people, healthy volunteers welcome
- Sponsor
- Universitair Ziekenhuis Brussel
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
Cerebral Palsy, Down Syndrome
Investigation of Parents' Anxiety Level and Health Related Quality of Life in Different Types of Physical Disabilities
Disability brings many psychosocial problems in society. The effects of the health of a disabled child on the psychological health and quality of life of the family are inevitable.
- Conditions
- Cerebral Palsy, Down Syndrome, Spina Bifida, Muscular Dystrophy
- Trial name
- NCT04035967
- Testing
- Questionnaire
- Where
- Turkey (Türkiye)
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- Sanko University
Williams Syndrome, Supravalvular Aortic Stenosis
Impact of Elastin Mediated Vascular Stiffness on End Organs
Background: People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness.
- Conditions
- Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
- Trial name
- NCT02840448
- Where
- 2 sites in United States
- Volunteers
- 159 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
Obstructive Apnea
Comparison of a Demand Oxygen Delivery
Conducting a randomized control trial of oxygen in children with Down syndrome to treat moderate to severe obstructive sleep apnea.
- Trial name
- DOSA (NCT06609694)
- Testing
- Portable oxygen concentrator Inogen G5 model
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Congenital Diaphragmatic Hernia
Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly.
- Trial name
- NCT01098929
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Down Syndrome
Assessing the Feasibility of the Use of Visual Aids in Patient Education in Adults With Down Syndrome (DS)
Purpose: To assess the feasibility of using videos depicting people with DS to teach other adults with DS to perform healthy behaviors.
- Trial name
- NCT02895802
- Testing
- Verbal instructions with picture diagram, Verbal instructions with video of ADSC, verbal instructions w. video of w/o DS
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Trisomy 13, Trisomy 18
High Risk Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample.
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
- Trial name
- NCT02278874
- Where
- 4 sites in United States
- Volunteers
- 99 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Down Syndrome
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines.
- Trial name
- DSC2U (NCT04227197)
- Testing
- Down Syndrome Clinic to You (DSC2U)
- Where
- United States
- Volunteers
- 281 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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
Klinefelter Syndrome, Diabetes
Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome
Klinefelter syndrome (KS) is the most common sex-chromosome disorder with a prevalence of one in 660 men and is a frequent cause of hypogonadism and infertility.
- Conditions
- Klinefelter Syndrome, Diabetes, Osteoporosis, Metabolic Syndrome
- Trial name
- NCT00523835
- Where
- Denmark
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Down Syndrome
Shared Book Reading to Promote Mental Well-being Among Young People with and Without Down's Syndrome
Abstract Background: With the progress of society and the deepening of people's understanding of Down syndrome (DS), research has shifted focus on how to improve the quality of life and education for young people with DS.
- Trial name
- NCT06813625
- Testing
- Shared book reading intervention
- Where
- China
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Macau
Anomalies Chromosome
The Contribution of Optical Mapping to the Characterization of Chromosomal Rearrangements in Patients With Neurodevelopmental Disorders
In neurodevelomental disorders, duplications are genomic variations that are difficult to interpret because their orientation cannot be defined by conventional techniques (ACPA and FISH).
- Trial name
- Bionano (NCT07133789)
- Testing
- blood sampling of all patients and their parents
- Where
- France
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Anxiety Disorders, Child Developmental Disorders, Pervasive
Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down Syndromes
By testing physiological responses to anxiety in people with nervous system developmental disorders, this study will identify specific physiological characteristics associated with response to anxiety treatments.
- Trial name
- NCT00879515
- Where
- United States
- Volunteers
- 511 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Down Syndrome
Natural History of Amyloid Deposition in Adults With Down Syndrome
The primary objective of this study is to assess the presence of amyloid in non-demented/functionally stable adults with DS as a function of age, dividing the sample into amyloid-positive and amyloid-negative groups.
- Trial name
- NCT01303133
- Where
- 2 sites in United States
- Volunteers
- 81 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
22Q11 Deletion Syndrome
Mindfulness Program for Adolescents With 22q11DS
The goal of this study is to evaluate the effectiveness of the Aware Program, an online mindfulness education program, with adolescents with 22q11DS and their parents.
- Trial name
- NCT05849441
- Testing
- Aware Program
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Innovation Research & Training
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)