Clinical trials: Chromosome Abnormality
Turner Syndrome
Is There a Link Between Inflammation and Endocrinopathies in Turner Syndrome?
Liver abnormalities are common in Turner syndrome. The physiopathology of these abnormalities is unknown for the moment but their potentially serious evolution requires additional explorations.
- Trial name
- NCT05473091
- Testing
- no intervention
- Where
- France
- Volunteers
- 179 people
- Sponsor
- Central Hospital, Nancy, France
Atopic Dermatitis, Alopecia Areata
Treatment of Atopic Dermatitis and Alopecia Areata With Abrocitinib in Individuals With Down Syndrome
This is a single-center, open-label, basket phase 2b trial that will enroll Down Syndrome (DS) participants with at least one inflammatory skin condition (Atopic Dermatitis (AD) and/or Alopecia Areata (AA)).
- Trial name
- NCT07242638
- Testing
- Abrocitinib
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Prader-Willi Syndrome
PWS European Blood Bank for Infants and Controls From 0 to 48 Months
The present project aims to determine the underlying mechanisms for the switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in PWS.
- Trial name
- NCT02529085
- Testing
- blood samples
- Where
- 6 sites in Belgium, France and 4 more
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
22q.11.2 Deletion/Duplication
Non-Invasive Chromosomal Evaluation of 22q11.2
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
- Trial name
- 22Q (NCT02541058)
- Where
- Belgium
- Volunteers
- 420 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
Pregnancy, Down Syndrome
Comparison of Aneuploidy Risk Evaluations
This is a prospective, multi-center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in…
- Conditions
- Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome
- Trial name
- CARE (NCT01663350)
- Where
- 26 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Verinata Health, Inc.
Down Syndrome, Sleep Apnea, Obstructive
19/5000 (SYNAPSOT21) Predictive Factors of Sleep Apnea Syndrome in Down Syndrome
The obstructive sleep apnea syndrome (OSAS) is frequently reported in subjects with trisomy 21. The consequences of this syndrome are expressed in various disorders such as cognitive and cardiovascular alterations.
- Conditions
- Down Syndrome, Sleep Apnea, Obstructive, Polysomnography
- Trial name
- SYNAPSOT21 (NCT03445962)
- Testing
- Assessment of OSAS predictive factors
- Where
- France
- Volunteers
- 40 people
- Sponsor
- University Hospital, Grenoble
Down Syndrome
Role of Early Motor Experience in Infants With Down Syndrome
Infants with Down syndrome show significant delays and weaknesses in motor, cognitive, and language development compared to typically developing infants.
- Trial name
- NCT05144373
- Testing
- Gross motor intervention, gross and fine motor intervention
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- Georgia State University
Myelodysplastic Syndromes
Safety of Lenalidomide and Markers for Disease Progression in Patients With International Prognostic Scoring System (IPSS) Low- or Intermediate-1 Risk Myelodysplastic Syndromes (MDS) With Isolated del5q
The purpose of this study is to determine the safety of lenalidomide and markers for disease progression in the treatment of IPSS low- or intermediate-1 risk MDS with isolated del5q.
- Trial name
- MDS-LE-MON-5 (NCT01081431)
- Testing
- Lenalidomide
- Where
- 12 sites in Germany
- Volunteers
- 91 people
- Sponsor
- Gesellschaft fur Medizinische Innovation - Hamatologie und Onkologie mbH
Prader-Willi Syndrome, Hyperphagia
Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome
This Phase 2b/3 double-blind, placebo-controlled study will evaluate the safety, tolerability, and effects of livoletide on food-related behaviors in patients with Prader-Willi Syndrome (PWS).
- Trial name
- ZEPHYR (NCT03790865)
- Testing
- Livoletide
- Where
- 37 sites in United States, Australia and 6 more
- Volunteers
- 158 people
- Sponsor
- Millendo Therapeutics SAS
Down Syndrome
Effects of Play Based Therapy on Attention Level of Children With Down Syndrome
The aim of the study is to examine the attention level of children with down syndrome receiving play based therapy as compared to children receiving child centered play therapy.
- Trial name
- NCT06893666
- Testing
- Play based therapy, Child centered play therapy
- Where
- Pakistan
- Volunteers
- 20 people
- Sponsor
- Riphah International University
Myelodysplastic Syndromes
Lenalidomide Safety/Efficacy in Myelodysplastic Syndromes (MDS) Associated With a Deletion (Del)(5q) Cytogenetic Abnormality
This study is a multicenter, single-arm, open-label study of oral lenalidomide monotherapy administered to red blood cell (RBC) transfusion-dependent subjects with low- or intermediate-1-risk Myelodysplastic Syndromes (MDS)…
- Trial name
- NCT00065156
- Testing
- lenalidomide
- Where
- 32 sites in United States, Germany
- Volunteers
- 148 people
- Sponsor
- Celgene
Klinefelter Syndrome
Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome
This study will learn more about how the body uses energy. Usually, the body uses sugars as energy first and then fats are used when the sugar stores are gone. Some people have trouble using fats as energy.
- Trial name
- NCT05498090
- Testing
- Fenofibrate 145 mg
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Growth Hormone Disorder, Growth Hormone Deficiency in Children
Usability and Tolerability of the Norditropin NordiFlex® Injection Device in Children Never Previously Treated With Growth Hormone
This study is conducted in Europe. The purpose of this study is to assess the impact on daily life for children new to using a growth hormone injection device.
- Conditions
- Growth Hormone Disorder, Growth Hormone Deficiency in Children, Genetic Disorder, Turner Syndrome
- Trial name
- NCT01327924
- Testing
- Norditropin NordiFlex®
- Where
- France
- Volunteers
- 77 people
- Sponsor
- Novo Nordisk A/S
Down Syndrome, Fetal Aneuploidy
Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
- Trial name
- NCT01555346
- Where
- 29 sites in United States, Canada
- Volunteers
- 3,062 people
- Sponsor
- Sequenom, Inc.
Down Syndrome
Correlations Phenotype / Genotype in Down Syndrome
The purpose of this study is to correlate phenotype and genotype of Down syndrome patients in order to identify the biochemical reactions involved in their mental retardation and their other phenotypic characteristics.
- Trial name
- INTREPID (NCT01034280)
- Where
- France
- Volunteers
- 524 people
- Sponsor
- Institut Jerome Lejeune
Hypotonia, Muscle, Obstructive Sleep Apnea
Long-term Evaluation of Nasopharyngeal Airway in Hypotonia
This research is studying the long term use of a nasal airway device (self-supporting nasopharyngeal airway; "ssNPA") in children with hypotonic upper airway obstruction to learn about its effectiveness and tolerability as a…
- Conditions
- Hypotonia, Muscle, Obstructive Sleep Apnea, Nasal Airway Obstruction
- Trial name
- NCT06614582
- Testing
- Self-Supporting Nasopharyngeal Airway (ssNPA)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Michigan
Sleep Apnea, Obstructive, Down Syndrome
A Pilot Study to Evaluate the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep Apnea
Obstructive sleep apnea (OSA) affects up to 1% of the general pediatric population and is associated with adverse behavior and quality of life, as well as long term cardiopulmonary system complications.
- Trial name
- NCT02344108
- Testing
- Inspire® Upper Airway Simulation System (Model 3028 IPG )
- Where
- 5 sites in United States
- Volunteers
- 42 people
- Sponsor
- Christopher Hartnick, M.D.
Abnormal Karyotype
The Effectiveness of Blastocentesis Versus Trophectoderm Biopsy
For the purpose of this study, the investigators will perform the removal of trophectoderm (TE) the cells as required for the purpose of pre-implantation genetic screening, in order to perform the genetic analysis.
- Trial name
- NCT02915276
- Testing
- Blastocentisis, Trophectoderm biopsy
- Where
- United Kingdom
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Center for Reproductive an Genetic Health
Multiple Myeloma
Detecting Minimal Residual Diseases (MRD) and Monitoring Clonal Evolution Using Ultrasensitive Chromosomal Aberrations Detection (UCAD) in Multiple Myeloma
The presence of minimal residual disease (MRD) is an important prognostic factor for multiple myeloma, while copy number variation (CNV) is a widely accepted biomarker used for multiple myeloma (MM).
- Trial name
- NCT06302699
- Where
- China
- Volunteers
- 80 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Microdeletion Syndromes, Trisomy 21
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on…
- Conditions
- Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- Microdel Triad (NCT02109770)
- Where
- 2 sites in United States
- Volunteers
- 216 people
- Sponsor
- Natera, Inc.
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