Clinical trials: Cytogenetic Abnormality
Down Syndrome
Inspiratory Muscle Training and Physical Fitness in Children With Down Syndrome Randomized Control Trial
The purpose of this study is to investigate the effect of inspiratory muscle training on physical fitness in Down syndrome children.
- Trial name
- NCT04767412
- Testing
- aerobic exercise training, inspiratory muscle training
- Where
- Egypt
- Volunteers
- 40 people
- Sponsor
- Cairo University
Prader-Willi Syndrome
Probiotic Treatment for Prader-Willi Syndrome
A whole new research area studying the function of intestinal microorganisms, also known as gut microbiota, has emerged during the last decade.
- Trial name
- NCT04685057
- Testing
- Probiotic, Follow-up probiotic
- Where
- Spain
- Volunteers
- 41 people
- Sponsor
- Fundació Sant Joan de Déu
Covid19, Thymic Hypoplasia
Is Thymus Size of Infants Who Born to COVID-19 Positive Mothers Associated With Neonatal Morbidities?
COVID-19 infected pregnant women is thought to have variable degrees of inflammatory response against the disease. Investigators of present study, suggested that fetuses are affected from the possible fetal inflammatory syndrome…
- Trial name
- NCT04470739
- Testing
- chest x-ray
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Kanuni Sultan Suleyman Training and Research Hospital
Genetic Disorder, Prader-Willi Syndrome
Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome
This study is conducted in Europe. The aim of this observational study is to collect data from children with Prader-Willi Syndrome, who have been treated off-label with Norditropin® for more than 12 months to seek approval for…
- Trial name
- NCT00705172
- Testing
- somatropin
- Where
- 3 sites in Denmark, Germany and 1 more
- Volunteers
- 41 people
- Sponsor
- Novo Nordisk A/S
Down Syndrome
Anomalies of Nocturnal Gaz Exchanges in Patients With Down Syndrome
Recently, retrospective studies have shown that Down Syndrome children have a higher CO2 (carbone dioxide) sleep pressure than the general pediatric population. This increase does not seem to be always related to sleep apnea.
- Trial name
- NCT03903666
- Testing
- Nocturnal gaz exchanges measurement
- Where
- France
- Volunteers
- 48 people
- Sponsor
- Institut Jerome Lejeune
Fragile X Syndrome
A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome
The purpose of this study is to determine the effectiveness and tolerability of aripiprazole in the treatment of children and adolescents with Fragile X Syndrome.
- Trial name
- NCT00420459
- Testing
- Aripiprazole
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Indiana University
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency…
- Conditions
- Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome
- Trial name
- CVID/PIRD (NCT07284641)
- Testing
- Hematopoietic stem cell transplant (HSCT)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Paul Szabolcs
Sleep Disorders
Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities
The purpose of this study is to establish the efficacy and safety of Circadin in children with neurodevelopmental disorders and to determine the dose, this randomized, placebo-controlled study is planned to evaluate the efficacy…
- Trial name
- NCT01906866
- Testing
- Circadin 2/5/10 mg
- Where
- 28 sites in United States, Finland and 3 more
- Volunteers
- 125 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
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
Down Syndrome
Physical Fitness in DS: A Comparison of Cuevas Medak and Rebound Exercises
This randomized clinical trial investigates the comparative effects of Cuevas Medak Exercises Vs Rebound Exercises on physical fitness in DS.
- Trial name
- DownSyndrome (NCT07248449)
- Testing
- Cuevas Medak Exercises
- Where
- Pakistan
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Obesity, Genetic Disorder
Brain-Derived Neurotrophic Factor in Obesity and Brain Function
Background: Prader-Willi syndrome (PWS) and MC4R genetic mutations are two conditions that can cause problems with appetite regulation. People with PWS often have behavior and thinking problems.
- Conditions
- Obesity, Genetic Disorder, Mental Retardation, Developmental Delay
- Trial name
- NCT01517048
- Where
- 2 sites in United States, Canada
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Dental Plaque, Dental Prophylaxis
Effectiveness of Customized Handle Toothbrush
People with special needs suffer from many difficulties, including mental, physical or motor, which increase the difficulty of obtaining good oral health.
- Conditions
- Dental Plaque, Dental Prophylaxis, Dental Care
- Trial name
- NCT04845633
- Testing
- Evaluation of the Effectiveness of Conventional Toothbrush in Dental Plaque Control in Healthy Children, Evaluation of the Effectiveness of Customized Handle Toothbrush in Dental Plaque Control in Healthy Children, Evaluation of the Effectiveness of Conventional Toothbrush in Dental Plaque Control in Children with Down Syndrome
- Where
- Syria
- Volunteers
- 48 people
- Sponsor
- Damascus University
Fragile X Syndrome, Fragile X Mental Retardation Syndrome
A Trial of Metformin in Individuals With Fragile X Syndrome
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 25 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three…
- Conditions
- Fragile X Syndrome, Fragile X Mental Retardation Syndrome, Mental Retardation, X Linked, Genetic Diseases, X-Linked
- Trial name
- Met (NCT03479476)
- Testing
- Metformin
- Where
- 3 sites in United States, Canada
- Volunteers
- 120 people
- Sponsor
- University of California, Davis
Osteoporosis, Turner's Syndrome
Hormone Replacement Therapy to Treat Turner Syndrome
This study will evaluate the effects of hormone replacement therapy on patients with Turner syndrome (TS)-a genetic disorder in females in which part or all of one X chromosome is missing.
- Trial name
- NCT00013546
- Testing
- TMTDS
- Where
- United States
- Volunteers
- 92 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Down Syndrome
Nutritional Status in Children With Down Syndrome
To evaluate the nutritional status of children with Down's syndrome and to determine the prevalence of nutritional deficiencies among those children.
- Trial name
- DS (NCT06989060)
- Where
- Egypt
- Volunteers
- 75 people
- Sponsor
- Assiut University
Down Syndrome
Delivering Early Intervention to Children With Down Syndrome
Children with Down syndrome (DS) are at risk for significant language and communication impairments. Enhancing the service delivery of early intervention for children with DS is a key research and policy issue given the…
- Trial name
- NCT03935620
- Testing
- Enhanced Milieu teaching
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Oregon Health and Science University
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
Down Syndrome
Digital Dysmorphology Project
In this study, the investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD).
- Trial name
- NCT02651493
- Testing
- photographs
- Where
- United States
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Kevin Cleary
Prader-Willi Syndrome
Cannabidiol Oral Solution for the Treatment of Patients With Prader-Willi Syndrome
The primary objective of this study is to assess the efficacy of cannabidiol oral solution on hyperphagia-related behavior in patients with Prader-Willi Syndrome (PWS).
- Trial name
- NCT02844933
- Testing
- Cannabidiol
- Where
- 7 sites in United States
- Volunteers
- 7 people
- Sponsor
- Radius Pharmaceuticals, Inc.
Down Syndrome
Neurodevelopmental Treatment for Balance and Mobility in Children With Down Syndrome
The goal of this clinical trial is to evaluate whether Neurodevelopmental Treatment (NDT) can improve balance, mobility, walking capacity, and functional independence in preschool children with Down syndrome.
- Trial name
- NCT07653399
- Testing
- Neurodevelopmental Treatment (NDT)
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people
- Sponsor
- Istanbul Nisantasi University