Clinical trials: Chromosome Disorders
Obstructive Sleep Apnea, Down Syndrome (Trisomy 21)
Effects of a Pacifier on Obstructive Sleep Apnea and Its Repercussions 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
- TET21 (NCT07658053)
- Testing
- CURAPROX pacifier use, Pacifier diary, Polysomnography (PSG) to explore OSA
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Hospices Civils de Lyon
Down Syndrome, Trisomy 21
JASPER Intervention in Down Syndrome
The goal of this study is to determine whether JASPER (Joint Attention, Symbolic Play, Engagement, Regulation), which is an intensive, targeted early behavioral intervention focused on a developmentally based approach for…
- Trial name
- NCT03653143
- Testing
- JASPER
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Boston Children's Hospital
Turner's Syndrome
An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG
Children with growth failure due to inadequate secretion of growth hormone or growth retardation due to Turner's syndrome are individually dosed and treated for 12 weeks
- Trial name
- NCT00250250
- Testing
- ZOMACTON
- Where
- 6 sites in Czechia, France and 1 more
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Ferring Pharmaceuticals
Prader Willi Syndrome, Syndromic Obesity
Prader-Willi Syndrome Macronutrient Study
The overall objective is to explore the mechanisms by which macronutrients regulate food intake and weight gain in Prader Willi Syndrome (PWS).
- Conditions
- Prader Willi Syndrome, Syndromic Obesity, Childhood Obesity
- Trial name
- NCT02011360
- Testing
- Low Carbohydrate diet, Low Fat diet
- Where
- 2 sites in United States, Canada
- Volunteers
- 10 people
- Sponsor
- Duke University
Risk-directed Therapy, Cytogenetic Abnormality
Risk-stratified Therapy Based on Molecular Cytogenetic Aberration and Treatment Response in AML
Risk-stratified therapy based on molecular and cytogenetic for acute myeloid leukemia (AML) is well accepted and benefits patients' survival.
- Conditions
- Risk-directed Therapy, Cytogenetic Abnormality, Molecular Abnormality, MRD
- Trial name
- NCT03620955
- Testing
- Justified risk stratification based on MRD after three course chemo therapy
- Where
- China
- Volunteers
- 1,000 people
- Sponsor
- Nanfang Hospital, Southern Medical University
Down Syndrome
Effects of Bubble Cushion Exercises on Postural Control in Children With Down Syndrome
Conducted as a quasi-experimental study. It involves 22 children aged 6-9 years, recruited from different special education schools, who will participate in supervised balance and weight-shifting exercises for 30-45 minutes…
- Trial name
- NCT07756944
- Testing
- Bubble cushion exercises
- Where
- Pakistan
- Volunteers
- 22 people
- Sponsor
- Riphah International University
Down Syndrome, Motor Performance
Bobath and Vojta Therapy for DS
Different physiotherapy approaches and education programs are applied to minimize motor and mental impairment in children with Down syndrome (DS).
- Conditions
- Down Syndrome, Motor Performance, Bobath Therapy, Vojta Technique
- Trial name
- NCT04536506
- Testing
- Bobath Therapy, Vojta technique
- Where
- Turkey (Türkiye)
- Volunteers
- 23 people
- Sponsor
- Pamukkale University
Down Syndrome
How Simplified Language Affects Comprehension and Learning in Young Children With Down Syndrome
The long-term study goal is to experimentally evaluate the components (and likely active ingredients) of early language interventions for young children with Down syndrome (DS).
- Trial name
- NCT06951516
- Testing
- Linguistic simplification
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Michigan State University
Klinefelter Syndrome, XXY Syndrome
Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome
The purpose of this study is to determine if testosterone replacement therapy leads to changes in psychological factors and/or motor skills in adolescent males with 47,XXY (also called Klinefelter syndrome).
- Trial name
- TestoXXY/KS (NCT01585831)
- Testing
- Testosterone gel 1%
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- University of Colorado, Denver
Intellectual Disability, Cerebral Palsy
Oral Health Promotion Among Preschool Children With Special Needs
Establishing good oral health-related habit is challenging among younger children, especially for preschool children with special needs, as they have physical, mental, sensory, behavioural, emotional, and chronic medical…
- Conditions
- Intellectual Disability, Cerebral Palsy, Developmental Disorders, Developmental Delay
- Trial name
- NCT03522337
- Testing
- Visual pedagogy (social stories), Conventional leaflets
- Where
- China
- Volunteers
- 306 people
- Sponsor
- The University of Hong Kong
Accelerated Phase Chronic Myelogenous Leukemia, Adult Acute Lymphoblastic Leukemia in Remission
Nilotinib and Imatinib Mesylate After Donor Stem Cell Transplant in Treating Patients With ALL or CML
This phase I/II trial is studying the side effects and best way to give nilotinib when given alone or sequentially after imatinib mesylate after donor stem cell transplant in treating patients with acute lymphoblastic leukemia or…
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, Adult Acute Lymphoblastic Leukemia in Remission, Blastic Phase Chronic Myelogenous Leukemia, Childhood Acute Lymphoblastic Leukemia in Remission
- Trial name
- NCT00702403
- Testing
- nilotinib, imatinib mesylate, pharmacological study
- Where
- 5 sites in United States
- Volunteers
- 40 people
- Sponsor
- Fred Hutchinson Cancer Center
Down Syndrome, Vitamin D Deficiency
Effect of Exercise Intensity on Vitamin D
Children with Down's syndrome (DS) are more liable to vitamin D deficiency. Treating this deficiency with supplements is associated with the risk of intoxication due to increased intestinal absorption or decreased vitamin D…
- Trial name
- NCT05024110
- Testing
- High intensity treamill exercise training., Moderate intensity treamill exercise training.
- Where
- Saudi Arabia
- Volunteers
- 44 people
- Sponsor
- Taif University
Pregnancy
Evaluation of a Decision Assisting Tool for Prenatal Testing
This is a randomized study of an interactive, computerized descision-assisting tool for prenatal testing decision making (PT Tool) versus standard educational booklets distributed to all pregnant women by the State of California…
- Trial name
- NCT00686062
- Testing
- Control - computerized age-appropriate prenatal testing educational brochure, PT Tool - interactive, computerized, prenatal testing decision tool
- Where
- United States
- Volunteers
- 494 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Prader Willi Syndrome, Obesity
Correlation of Hyperghrelinemia With Carotid Artery Intima-Media Thickness in Children With Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a genetic disorder characterized by childhood-onset obesity and endocrine dysfunction that leads to cardiovascular disability and early death within the first 3 decades of life.To assess the…
- Trial name
- NCT00474643
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Down Syndrome
Virtual Reality Technology For Cognitive Functions Of Children With Down Syndrome
The purpose of the study is to identify the effect of fully-immersive virtual reality technology on cognitive functions of children with Down syndrome
- Trial name
- NCT05849818
- Testing
- full-immersive VRapeutic software gaming technology
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Cairo University
Down Syndrome, Cardiovascular Risk Factor
Vascular Health and Risk Factors in Children With Down Syndrome
This is a prospective, multicenter, cross-sectional study to evaluate prevalence of vascular risk factors in children with Down Syndrome and to determine the association between vascular disease risk factors and objective markers…
- Conditions
- Down Syndrome, Cardiovascular Risk Factor, Atherosclerosis
- Trial name
- NCT04735874
- Testing
- Evaluate vascular disease risk factors in children with Down Syndrome, Determine the associations between cardiovascular disease risk factors and markers of early atherosclerosis in children with Down Syndrome
- Where
- United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- University of Utah
Fragile X Syndrome
Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)
The aim of this study is to characterize the pharmacokinetics and safety/tolerability of AFQ056 in children with Fragile X Syndrome(FXS)
- Trial name
- NCT01482143
- Testing
- AFQ056
- Where
- 4 sites in United States, Spain
- Volunteers
- 21 people
- Sponsor
- Novartis Pharmaceuticals
Down Syndrome
Relationship Between BMI, Physical Fitness and Motor Skills in Children With Down's Syndrome
Down syndrome is a congenital condition which includes physical mental, and functional abnormalities. It arises from defect involving chromosome 21, usually an extra copy (trisomy 21).
- Trial name
- NCT05904821
- Where
- Pakistan
- Volunteers
- 169 people
- Sponsor
- Riphah International University
Down Syndrome
Investigating the Impact of JASPER Behavioral Therapy in Children With Down Syndrome
In this study, investigators will study the impact of a 1:1 caregiver coaching intervention using the JASPER (Joint Attention, Symbolic Play, Engagement, Regulation) behavioral therapy curriculum compared to a psychoeducational…
- Trial name
- NCT05638412
- Testing
- JASPER, Psychoeducational Curriculum
- Where
- United States
- Volunteers
- 103 people
- Sponsor
- Boston Children's Hospital
Fertility Preservation, Ovarian Tissue Cryopreservation
Preservation of Ovarian Cortex Tissue in Girls With Turner Syndrome
Rationale: Infertility due is a major concern for girls with Turner syndrome (TS) and their parents. Physicians are often asked about possible options to preserve their fertility.
- Conditions
- Fertility Preservation, Ovarian Tissue Cryopreservation, Turner Syndrome, Live Birth
- Trial name
- NCT03381300
- Testing
- Ovarian tissue cryopreservation
- Where
- Netherlands
- Volunteers
- 106 people
- Sponsor
- Radboud University Medical Center