Clinical trials: Chromosome Abnormalities
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
Velo-cardio-facial Syndrome, Psychosis
Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome
This is an exploratory clinical investigation. The objectives of this study are to evaluate the safety, steady-state pharmacokinetics, and efficacy of metyrosine (Demser®) for the treatment of psychosis in patients with…
- Trial name
- NCT01127503
- Testing
- Metyrosine
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Bausch Health Americas, Inc.
Dysarthria, Down Syndrome
Intensive Dysarthria Sessions in Adults and Children With Down Syndrome
This research study is designed to investigate the feasibility and treatment effects of a behavioral speech treatment in adults and children with Down Syndrome (DS) and dysarthria.
- Trial name
- NCT01684670
- Testing
- Speech sessions
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Duke University
Down Syndrome
Effect of the Sensory Integration Approach on Balance and Motor Coordination in Children With Down Syndrome
Down syndrome can be characterized by global mental and physical dysfunction or isolated gait, cognition, growth, or sensory disturbances.
- Trial name
- NCT05583565
- Testing
- sensory integration approach, traditional physical therapy program
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Cairo University
Down Syndrome
Proactive Speech and Language Intervention for Infants With Down Syndrome
Children with Down syndrome (DS) face life-long struggles with verbal communication. Babble and speech sound development is delayed, and speech can be difficult to understand.
- Trial name
- BBC-DS (NCT06450509)
- Testing
- Babble Boot Camp
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Arizona State University
Down Syndrome
Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People
This is the first study about Neuropsychological function and OSAS in Taiwan. Although the correlation between OSAS and neuropsychological abnormalities had been reported, it is worth to understand more about the detailed domains…
- Trial name
- NCT03267602
- Testing
- CPAP
- Volunteers
- 45 people
- Sponsor
- National Taiwan University Hospital
Healthy
Open-Label, Placebo-Controlled, Parallel Group Study in Healthy Volunteers to Evaluate the Effects of Two Single MT 400 or Naproxen Sodium Tablets
This is an open-label, parallel group, single-center study. The study design consists of a screening and a treatment period. A total of 42 (approximately 21 of each sex) non-smoking healthy volunteers aged 18 - 35.
- Trial name
- NCT00596245
- Testing
- MT400
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Down Syndrome
Physiological Abnormalities Associated with Down Syndrome
The overall goal of this study is to evaluate biomarkers of oxidative stress, mitochondrial function, and DNA methylation (epigenetics) in order to determine the extent to which these biomarkers are related to cognitive…
- Trial name
- NCT03087500
- Testing
- There is no other intervention, only clinical treatment.
- Sponsor
- University of Arkansas
Infertility, Aneuploidy
Time Lapse Assisted Embryo Selection Versus Non Invasive PGT-A Assisted Embryo Selection
This is a prospective randomised study of the evaluation of the clinical IVF results after time lapse assisted embryo selection versus Non-invasive PGT-A assisted embryo selection in subfertile women.
- Conditions
- Infertility, Aneuploidy, Chromosome Abnormality
- Trial name
- NCT05545995
- Testing
- embryo selection
- Where
- Greece
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Assisting Nature
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
Chronic Myeloid Leukemia
Randomized Study Comparing the Effect of Dasatinib and Imatinib on Malignant Stem Cells in Chronic Myeloid Leukemia
A randomized multi-center study comparing the effect of dasatinib and imatinib on malignant stem cells in newly diagnosed chronic phase chronic myeloid leukemia (CML) patients.
- Trial name
- NordCML006 (NCT00852566)
- Testing
- Imatinib, Dasatinib
- Where
- 7 sites in Finland, Norway and 1 more
- Volunteers
- 46 people
- Sponsor
- Norwegian University of Science and Technology
Stuttering, Down Syndrome
How Stuttering and Gestures Influence the Intelligibility of Individuals With Down Syndrome
This study wants to determine the relationship between spontaneous hand gestures, stuttering and intelligibility in individuals with Down syndrome. One third of these individuals has fluency problems, such as stuttering.
- Conditions
- Stuttering, Down Syndrome, Intelligibility, Speech, Gestures
- Trial name
- NCT03698539
- Testing
- hand gestures
- Where
- Belgium
- Volunteers
- 60 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Frequency of Chromosome Aberrations
Study of Markers of Cosmic Radiation Exposure and Effect Among Flight Crews
Ionizing radiation efficiently induces chromosomal aberrations (CA) and several studies of CA have now been conducted among small groups of flight crews.
- Trial name
- NCT00341900
- Where
- United States
- Volunteers
- 134 people
- Sponsor
- National Cancer Institute (NCI)
Turner Syndrome
Social Cognition and Turner Syndrome
Monocentric multidisciplinary study (psychologists, endocrinologists, psychiatrists, and molecular biologists) to characterize social cognition in adolescents with Turner syndrome (TS).
- Trial name
- COGNITUR (NCT01687842)
- Testing
- Evaluation of 45,X Turner syndrome patients
- Where
- France
- Volunteers
- 25 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fetal Growth Retardation
Non-invasive Placental Chromosome Exploration of Intrauterine Growth Restriction
The objective of this project is the non-invasive prenatal detection of placenta-limited aneuploidies, in patients whose fetuses have a intrauterine growth restriction below 3rd percentile, in parallel with an amniocentesis.
- Trial name
- DPNI-RCIU (NCT05023161)
- Testing
- Blood samples
- Where
- 3 sites in France
- Volunteers
- 300 people
- Sponsor
- University Hospital, Bordeaux
Alzheimer Disease, Down Syndrome
Hero: A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics (PK) and Pharmacodynamics (PD) of ION269 in Participants With Down Syndrome (DS) at Risk for Alzheimer's Disease (AD)
The primary purpose of this study is to evaluate the safety and tolerability of ION269 in adults with Down syndrome with evidence of brain amyloid positivity.
- Trial name
- NCT06673069
- Testing
- ION269
- Where
- 6 sites in United States, Spain
- Volunteers
- 1 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Trisomy 21
Non-invasive Screening of Fetal Trisomy 21 by Digital PCR
In France, as in many countries of the world, trisomy 21 or Down syndrome (DS) is the subject of an antenatal screening based on a risk calculation (R) including the assay of biochemical markers in the maternal blood, and the…
- Trial name
- dPNI-T21 (NCT03687866)
- Testing
- non invasive prenatal testing
- Where
- France
- Volunteers
- 776 people, healthy volunteers welcome
- Sponsor
- University Hospital, Caen
Down Syndrome
Treatment of Sleep Disturbances in School-age Children With Down Syndrome
The investigators long-term goal is to improve outcomes for children with Down syndrome (DS) and their caregivers. Towards that goal, the investigators propose a randomized clinical trial of a behavioral sleep treatment designed…
- Trial name
- NCT02996175
- Testing
- Behavioral Sleep Treatment, Standard of care sleep treatment enhanced with psychoeducation
- Where
- United States
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Acute Myeloid Leukemia, Down Syndrome
Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome
This phase III trial studies response-based chemotherapy in treating newly diagnosed acute myeloid leukemia or myelodysplastic syndrome in younger patients with Down syndrome.
- Conditions
- Acute Myeloid Leukemia, Down Syndrome, Myelodysplastic Syndrome, Myeloid Leukemia Associated With Down Syndrome
- Trial name
- NCT02521493
- Testing
- Asparaginase, Asparaginase Erwinia chrysanthemi, Cytarabine
- Where
- 191 sites in United States, Australia and 4 more
- Volunteers
- 280 people
- Sponsor
- Children's Oncology Group
Osteoporosis
Skeletal Health of Klinefelter Patients
This study compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers.
- Trial name
- NCT03704987
- Testing
- dual-energy X-ray absorptiometry
- Where
- Turkey (Türkiye)
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- TC Erciyes University
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