Clinical trials: Cytogenetic Abnormality
Fragile X Syndrome
Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome
The objective of this project is to explore the potential of functional near- infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Fragile X Syndrome (FXS) that is still without cure.
- Trial name
- NCT06293027
- Where
- Italy
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
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
Chromosome 22q11.2 Deletion Syndrome
Genetics and Psychopathology in the 22q11 Deletion Syndrome
The purposes of this study are to: 1. study the nature and longitudinal course of psychiatric symptoms in children with the 22q11.2 deletion syndrome and 2. identify genes that contribute to the occurrence of these symptoms.
- Trial name
- NCT00161109
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 175 people, healthy volunteers welcome
- Sponsor
- UMC Utrecht
Down Syndrome
Blood Flow and Blood Pressure Investigation in Down Syndrome
Down syndrome (DS) is a chromosomal condition that occurs in approximately 1 in 800 births worldwide, and causes impairments in physical function, including a reduced work capacity (as measured by VO2peak or aerobic capacity).
- Trial name
- FBI21 (NCT05528549)
- Testing
- Exercise
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- University of Illinois at Chicago
Prader-Willi Syndrome
Cortisol Activity in Patients With Prader-Willi Syndrome and Healthy Controls
The purpose of the study is to find out if people with Prader-Willi syndrome have a difference in the protein which changes inactive cortisone to the active stress hormone cortisol.
- Trial name
- NCT00932932
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Children's Mercy Hospital Kansas City
Down Syndrome
Oral Language in Children With Down Syndrome
The objective of this research is to verify the language of children with Down syndrome concerning lexical, syntactic and semantic aspects using MLU.
- Trial name
- NCT00952354
- Where
- Brazil
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Down Syndrome, Healthy
Clinical Validation of the Bordeaux Maze Test
Currently, the instruments used in translational studies related to cognition have proved to be inaccurate. For this reason, the objective of this study is to evaluate whether the Bordeaux Maze Test has adequate psychometric…
- Trial name
- BORMATE (NCT04241042)
- Where
- Spain
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Parc de Salut Mar
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
Down Syndrome
Effect of Sensory Integration on Gross and Balance on Children With Down Syndrome
To investigate the effect of sensory integration on gross motor function in children with Down syndrome. To investigate the effect of sensory integration on balance in children with Down syndrome.
- Trial name
- NCT07785011
- Testing
- BALANCE AND SENSORY INTEGRATION
- Where
- Egypt
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Raheel Sanad
Down Syndrome, Hemiparesis
Kinematic Analysis of Manual Dexterity
The following study aims to standardize the instrumented BBT for the objective evaluation of upper limb joint kinematics using MoCap on a population of healthy subjects between 4 and 18 years of age.
- Conditions
- Down Syndrome, Hemiparesis, Healthy Subjects
- Trial name
- SUPERFUN (NCT07875127)
- Testing
- Inertial Measurement Unit and Box and Block test
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele Roma
Autism Spectrum Disorder, Fra(X) Syndrome
Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome
The purpose of this study is to accumulate and quantitatively analyze data on the microbiome, serotonin signaling and genetics, and inflammatory cytokines from patients with Autism Spectrum Disorder and Fragile X Syndrome.
- Trial name
- NCT04869930
- Testing
- specimen collection
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Nova Mentis Life Science Corp
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
Down Syndrome
Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
Heterokaryotypic monozygotic twins discordant for Down syndrome (DS) are very rare, with an incidence estimated to be less than 1 over 7,000,000 pregnancy in the general population.
- Trial name
- Colibri (NCT05767216)
- Testing
- Biological sampling
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Institut Jerome Lejeune
Down Syndrome, Polyendocrinopathies, Autoimmune
Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome
This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome.
- Conditions
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
- Trial name
- NCT02421276
- Testing
- Phlebotomy
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Klinefelter Syndrome, Hypogonadism
Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome
This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients.
- Trial name
- IZKF-CRA03-09 (NCT01703676)
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University Hospital Muenster
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
Down Syndrome, Amyloid Beta-protein
Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid.
To determine the sensitivity of the visual assessment of BAY94-9172 PET images in detecting cerebral β-amyloid in individuals with Down Syndrome (DS) and specificity in individuals without DS.
- Trial name
- NCT00928304
- Testing
- Florbetaben (BAY94-9172)
- Where
- 2 sites in United States
- Volunteers
- 109 people, healthy volunteers welcome
- Sponsor
- Lantheus Biosciences Ltd.
Male Sterility Due to Y-chromosome Deletions
Aneuploidies in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions
In this study, investigators assess, using Fluorescence in situ Hybridization (FISH) and Comparative Genomic Hybridization (CGH) arrays for Preimplantation Genetic Screening (PGS), the incidence of aneuploidies in spermatozoa and…
- Trial name
- NCT02527954
- Where
- 3 sites in Spain
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Instituto Valenciano de Infertilidad, IVI Alicante
Fragile X Syndrome (FXS)
Novel Clinical Target in Fragile X Syndrome
Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder (ASD). The investigators wish to examine brain distribution of sigma-1 receptors in young adult males with FXS using 18F-FTC-146 PET.
- Trial name
- NCT04314856
- Testing
- 18F-FTC-146
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Guido A. Davidzon, MD, SM
Fragile X Syndrome
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well.
- Trial name
- NCT06560242
- Testing
- Speech discrimination
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati