Clinical trials: Chromosome Abnormalities, open to volunteers
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Obstructive Sleep Apnea (OSA), Down Syndrome
Endotype DIrected Treatment for OSA in Down Syndrome
Down syndrome is the most common genetic cause of intellectual disability. People with Down syndrome often have obstructive sleep apnea (OSA), a condition where people have difficulties with breathing while asleep.
- Trial name
- EDIT OSA (NCT07280468)
- Testing
- ato-oxy, Oxygen
- Where
- 5 sites in United States
- Volunteers
- 200 people
- Sponsor
- University of Arizona
Turner Syndrome
Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Turner syndrome affects 1/2500 female newborns. It is characterized by a short stature, gonadal dysgenesis and bone anomalies. It is secondary to X chromosome abnormality.
- Trial name
- Turner-Ylc (NCT06202846)
- Testing
- cfDNA analysis
- Where
- 2 sites in France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Strasbourg, France
Lung Cancer
Detection of Genetic Markers of Lung Cancer
The purpose of this research study is to determine the genetic changes and immunologic changes that are involved in the development and progression of bronchogenic lung cancer.
- Trial name
- NCT00280202
- Testing
- Biopsy of the major carinal area, Biopsy of abnormal & suspicious areas of the bronchial tree, Evaluation of the tumor for DNA mutations
- Where
- United States
- Volunteers
- 6,000 people
- Sponsor
- University of Pittsburgh
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
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
Down Syndrome, Fetal Aneuploidy
Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.
- Trial name
- NCT01429389
- Where
- 14 sites in United States, Canada
- Volunteers
- 2,000 people
- Sponsor
- Sequenom, Inc.
Prader-Willi Syndrome
A 2-Part Study to Assess Efficacy, Safety and Tolerability of BMB-101 for the Treatment of Patients With Prader-Willi Syndrome.
The goal of this clinical trial is to evaluate the safety and effects of a new drug called BMB-101 in people with Prader-Willi Syndrome (PWS).
- Trial name
- NCT07266324
- Testing
- BMB-101
- Where
- 2 sites in Australia
- Volunteers
- 16 people
- Sponsor
- Bright Minds Biosciences Pty Ltd
Prader-Willi Syndrome
The Intervention of Obesity in Children With Prader-Willi Syndrome Using Prebiotics and Probiotics
Prader-Willi syndrome (PWS) is a rare genetic disease, with hyperappetite and severe obesity. At present, there is no effective drugs and interventions to help control the appetite of PWS patients.
- Trial name
- NCT05791604
- Testing
- probiotics including B. lactis B420, B. lactis HN019, B. animalis Bb-12, L. rhamnosus GG, Prebiotics with galactomannan and oligofructose
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Fudan University
Pediatric Obstructive Sleep Apnea, Down Syndrome (DS)
Pediatric Down Syndrome Post-Approval Study
The purpose of this Post Approval research study is to assess ongoing safety and effectiveness of the Inspire therapy in adolescents and young adults (age 13-18) with Down syndrome and severe sleep apnea.
- Trial name
- NCT06851338
- Testing
- Hypoglossal Nerve Stimulation
- Where
- 6 sites in United States
- Volunteers
- 60 people
- Sponsor
- Inspire Medical Systems, Inc.
Infertility, Female, Infertility, Male
Embryo Assessment Utilizing Timelapse Imaging in Conjunction With Preimplantation Genetic Testing for Aneuploidy With Next Generation Sequencing
The goal of this observational study is to discern if there is a relationship between timelapse imagery of human oocytes/embryos and PGT results.
- Conditions
- Infertility, Female, Infertility, Male, Infertility, IVF
- Trial name
- NCT06419127
- Testing
- Timelapse incubation and PGT
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Gattaca Genomics
Down Syndrome (DS), Keratoconus
Compassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome
The goal of this clinical trial is to study the effects of an experimental (not Food and Drug Administration (FDA)-approved) treatment called corneal crosslinking (CXL) for conditions in which the cornea becomes progressively…
- Conditions
- Down Syndrome (DS), Keratoconus, Pellucid Marginal Degeneration, Forme Fruste Keratoconus (FFK)
- Trial name
- NCT07135167
- Testing
- Epi-ON corneal cross-linking (CXL)
- Where
- 12 sites in United States
- Volunteers
- 225 people
- Sponsor
- Woolfson Eye Institute
RAI1 Gene 17P11.2 Deletion+Duplication
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
Currently, there is no clinically available genetic-based treatment for RAI1 (Retinoic Acid-Induced 1) -related disorders other than symptomatic management and there are no established clinical or molecular biomarkers that could…
- Trial name
- NCT06274164
- Testing
- Electroencephalography/Polysomnography (EEG/PSG), Skin Biopsy, Blood draw
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Down Syndrome-Associated Alzheimer's Disease (DS-AD)
A Study to Evaluate Mivelsiran in Adult Participants With Early-Stage Down Syndrome-Associated Alzheimer's Disease (DS-AD)
The purpose of the study is to evaluate the effect of mivelsiran in adult participants with early-stage DS-AD and to characterize the safety, tolerability, and pharmacodynamics (PD) of mivelsiran.
- Trial name
- NCT07636811
- Testing
- Mivelsiran
- Where
- 10 sites in United States, Spain
- Volunteers
- 58 people
- Sponsor
- Alnylam Pharmaceuticals
Growth Hormone Deficiency, Turner Syndrome
Long-term Safety and Effectiveness of Growth Hormone With GHD, TS, CRF, SGA , ISS and PWS in Children
The purpose of this study is to evaluate the long-term safety and effectiveness of growth hormone (Eutropin Inj./Eutropin plus Inj.) treatment with GHD (Growth Hormone Deficiency), TS (Turner Syndrome),CRF (Chronic Renal…
- Conditions
- Growth Hormone Deficiency, Turner Syndrome, Chronic Renal Failure, Small for Gestational Age
- Trial name
- LGS (NCT01604395)
- Where
- South Korea
- Volunteers
- 6,000 people
- Sponsor
- LG Chem
Memory Replay, HippoCamera
A VIRTUAL Three-month Intervention Study of the Effects of a Smartphone Application (HippoCamera) on Memory in Teens and Young Adults With Down Syndrome
Down syndrome is a chromosomal abnormality associated with significant deficits across multiple cognitive domains, including a disproportionate deficit in hippocampally-dependent memory.
- Trial name
- NCT07008989
- Testing
- Memory replay
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Boston College
Down Syndrome (DS)
The Effect of the HEP Approach in Infants With Down Syndrome
This study evaluates the effect of the HEP (Homeostasis-Enrichment-Plasticity) approach on motor and sensory development in infants with Down syndrome.
- Trial name
- HEP-DS (NCT07163780)
- Testing
- HEP Intervention, Traditional Therapy
- Where
- Turkey (Türkiye)
- Volunteers
- 26 people
- Sponsor
- Izgi Miray Demirbag
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
Cornelia de Lange Syndrome
Behavioral Assessment and Treatment of Problem Behavior in Children With Cornelia de Lange Syndrome
The goals of this clinical trial are to identify factors associated with the development of problem behavior in Cornelia de Lange syndrome (CdLS) and to develop an effective behavioral assessment and treatment model for problem…
- Trial name
- NCT05829668
- Testing
- ABA-based functional analysis and treatment
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Obstructive Sleep Apnea, Down Syndrome (Trisomy 21)
Oro-myofunctional Characteristics and Obstructive Sleep Apnea in Infants With Down Syndrome
Obstructive Sleep Apnea (OSA) is characterised by repetitive collapse of the upper airway during sleep, inducing breathing disturbances that can result in oxygen desaturation and frequent arousals.
- Trial name
- OMF21 (NCT07195253)
- Testing
- Polysomnography (PSG) to explore OSA, Oro-myo-functional clinical evaluation, Sleep Disturbance Scale for Children
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Hospices Civils de Lyon