Clinical trials: Chromosome Abnormality
Chromosome Aberrations
Study on the Impact of Stem Cell Donation and Bone Marrow Harvesting on Unrelated Donors
Granulocyte Colony Stimulating Factor (GCSF) is used extensively as a means of mobilising donor peripheral blood stem cells as an alternative to bone marrow harvesting for the purpose of recipient stem cell transplantation.
- Trial name
- NCT01884610
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University College, London
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
Pregnancy
A Study Collecting Blood Samples From Pregnant Women to Aid in the Development of a Noninvasive Prenatal Test
The purpose of this study is to collect whole blood samples from women with viable pregnancies of at least 10 weeks gestation (at any risk for fetal chromosomal anomaly) for future testing with an investigational noninvasive…
- Trial name
- NCT03620110
- Where
- 8 sites in United States
- Volunteers
- 2,209 people
- Sponsor
- Illumina, Inc.
Prader-Willi Syndrome
Open-Label Extension Study of DCCR in Patients With Prader-Willi Syndrome
The purpose of this is study is to evaluate the long-term safety of DCCR (diazoxide choline) extended-release tablets) in patients with Prader-Willi syndrome.
- Trial name
- NCT05701774
- Testing
- DCCR
- Where
- 22 sites in United States, United Kingdom
- Volunteers
- 77 people
- Sponsor
- Soleno Therapeutics, Inc.
Klinefelter Syndrome
Fertility Preservation in Cases of Klinefelter Syndrome.
Klinefelter Syndrome (KS) is the most common sex chromosomal abnormalities (1/600 newborn males), and is characterized by a hypergonadism hypogonadism.
- Trial name
- FERTIPRESERVE (NCT01918280)
- Testing
- Seminal analyses and testicular biopsy
- Where
- 4 sites in France
- Volunteers
- 141 people
- Sponsor
- Hospices Civils de Lyon
Silver Russell Syndrome, Beckwith-Wiedemann Syndrome
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of…
- Conditions
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome
- Trial name
- IDMet (NCT05945576)
- Where
- 20 sites in France
- Volunteers
- 2,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
22q11.2 Deletion Syndrome
Neuroprotective Effects of Risperdal on Brain and Cognition in 22q11 Deletion Syndrome
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with a high risk of psychiatric disorders, including schizophrenia spectrum disorders.
- Trial name
- NCT04639960
- Testing
- Risperdal
- Where
- Switzerland
- Volunteers
- 16 people
- Sponsor
- University of Geneva, Switzerland
Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL)
Accuracy Testing of the Chromosomal Aberration and Gene Mutation Markers of the AMLProfiler
This clinical study will demonstrate the accuracy of the chromosomal aberration and gene mutation markers of the AMLProfiler molecular diagnostic assay and generate clinical performance data to support a Pre-Market Approval (PMA)…
- Conditions
- Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL), Refractory Anemia With Excess of Blasts (RAEB)
- Trial name
- NCT01463410
- Where
- 5 sites in United States, Germany and 2 more
- Volunteers
- 264 people
- Sponsor
- Skyline Diagnostics BV
Fragile X Syndrome
A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome
This is a 2-part study, with each part having a unique set of objectives for male adolescents aged 9 to < 18 years with fragile X syndrome (FXS).
- Trial name
- NCT05163808
- Testing
- zatolmilast
- Where
- 17 sites in United States
- Volunteers
- 163 people
- Sponsor
- Tetra Discovery Partners
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
Nordic Walk on Balance and Functional Strength in Children With Down Syndrome
Down syndrome (DS) is one of the more commonly occurring genetic disorders, where mental retardation is combined with nutritional diseases.
- Trial name
- NCT06943508
- Testing
- Conventional Therapy, Nordic Walk
- Where
- Pakistan
- Volunteers
- 32 people
- Sponsor
- Riphah International University
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
Obstructive Sleep Apnea, Down Syndrome
Medications for Obstructive Sleep Apnea In Children With Down Syndrome
This is a randomized, double blind, cross-over study of the combination of atomoxetine and oxybutynin (ato-oxy) in children with DS and OSA documented by polysomnography (PSG).
- Trial name
- MOSAIC (NCT04115878)
- Testing
- Atomoxetine and oxybutynin (ato-oxy)
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- University of Arizona
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
Downs Syndrome, Health Knowledge, Attitudes, Practice
Use of eHealth in Communication With Patients About Prenatal Diagnosis
The research aims at generating new knowledge about ways to inform pregnant women about prenatal screening for Downs syndrome. The overall purpose of this project is to increase pregnant women's knowledge of prenatal screening…
- Trial name
- HIIP (NCT01889550)
- Testing
- Access to the website www.graviditetsportalen.dk, Access to the website www.ouh.dk
- Where
- Denmark
- Volunteers
- 1,150 people
- Sponsor
- Odense University Hospital
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
Prader-Willi Syndrome, Obesity
Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity
Prader-Willi syndrome (PWS) is a rare genetic disorder that affects about 1 in 14,000 people in the United States. As the most commonly identified genetic cause of obesity, PWS is often confused with Early-onset Morbid Obesity…
- Trial name
- NCT00375089
- Testing
- Group 1, Group 2
- Where
- 4 sites in United States
- Volunteers
- 392 people
- Sponsor
- University of Florida
Balanced Chromosomal Translocation
Breakpoint Analysis of de Novo Apparently Balanced Chromosomal Translocations
For every child with developmental delay, the investigators do a constitutional karyotype. This karyotype can reveal an apparently balanced chromosomal rearrangement (no visible loss or gain of genetic material), such as a…
- Trial name
- NCT01826708
- Testing
- Identification of breakpoints
- Where
- France
- Volunteers
- 10 people
- Sponsor
- University Hospital, Montpellier