Clinical trials: Chromosome Abnormality
Williams Syndrome, Duplication
Defining the Brain Phenotype of Children With Williams Syndrome
Background: Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period.
- Trial name
- NCT01132885
- Where
- United States
- Volunteers
- 415 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Caregiver Burden
10-Week Physical Activity Program for Mothers of Children With Developmental Disabilities
The purpose of this study is to determine the feasibility and acceptability of a 10-week supervised Physical Activity program for mothers of children with developmental disabilities.
- Trial name
- NCT07182071
- Testing
- Physical Activity Program, Waitlist for Physical Activity Program
- Where
- United States
- Volunteers
- 19 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Madison
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
Down Syndrome, Balance
The Effects of Kinesiotaping on Balance in Children With Down Syndrome.
This study aimed to explore the effects of Kinesio tape applied to plantar soles on balance in children with Down Syndrome (DS). Two groups including children with DS and a group with their typically developing peers evaluated.
- Trial name
- NCT04156607
- Testing
- Kinesio taping
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Gazi University
Williams Syndrome
Fat Distribution and Glucose Metabolism in Williams Syndrome
Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and…
- Trial name
- NCT01864304
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Down Syndrome
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines.
- Trial name
- DSC2U (NCT04227197)
- Testing
- Down Syndrome Clinic to You (DSC2U)
- Where
- United States
- Volunteers
- 281 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Post-natal Cytogenetics
Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality Test
The study will determine the performance of the Infinium HD Test. The primary objective of the study is to assess the performance of the Infinium HD Test using banked DNA samples extracted from whole blood patient samples derived…
- Trial name
- NCT01426308
- Where
- 3 sites in United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.
Prader Willi Syndrome, Obesity
Characterization of Transcriptional Regulators of Ghrelin Hormone Which Causes Genetic Obesity
The problem point of the Prader-Willi Syndrome (PWS) patient is the obesity which is intense and the plasma ghrelin level which increases unusual from the recently PWS patients was discovered.
- Trial name
- NCT01404624
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Trisomy 21
Down Syndrome Screening Based on Dried Blood Spots and Cell-free Fetal DNA
There are 26,600 Down Syndrome newborns every year in China. The economic burden of this disease is 65,000 USD for lifetime of every patient.
- Trial name
- DBS&CFF (NCT01837979)
- Testing
- cell-free fetal DNA
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Williams Syndrome, Lipedema
Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study
Williams syndrome (WS) is a rare microdeletion genetic disorder that has a broad phenotype including many endocrine and metabolic abnormalities. Dr.
- Trial name
- SHAAPE (NCT03758651)
- Where
- United States
- Volunteers
- 144 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Down Syndrome
Oral Language in Children With Down Syndrome
The objective of this research is to verify the language of children with Down syndrome concerning lexical, syntactic and semantic aspects using MLU.
- Trial name
- NCT00952354
- Where
- Brazil
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
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
Aneuploidy
National Prevalence and Impact of Noninvasive Prenatal Testing
Information on pregnant women undergoing non-invasive prenatal testing (NIPT) at one of the Obstetrix Medical Groups Outpatient Centers between January 2012 and June 2014 will be retrospectively gathered and an analysis of the…
- Trial name
- NCT02284399
- Testing
- non-invasive prenatal testing
- Where
- 7 sites in United States
- Volunteers
- 4,488 people, healthy volunteers welcome
- Sponsor
- Obstetrix Medical Group
Fragile X Syndrome
A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107
The objectives of this study are to determine the safety and tolerability of single oral doses of STX107 and to determine basic pharmacokinetic (PK) parameters following single oral doses of STX107 when administered via an oral…
- Trial name
- NCT00965432
- Testing
- STX107
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Seaside Therapeutics, Inc.
Down Syndrome, Speech and Language Disorder
Building Sentences With Preschoolers Who Use AAC
The focus of this investigation is to compare the effectiveness of the AAC Generative Language Intervention approach to an AAC Standard of Care condition on preschool sentence productions.
- Conditions
- Down Syndrome, Speech and Language Disorder, Speech Disorders in Children, Speech Intelligibility
- Trial name
- NCT03538925
- Testing
- AAC Generative Language Intervention, Standard of Care / Business as Usual
- Where
- 2 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Central Florida
Down Syndrome
Assessment of Neural Oscillations in Adult Subjects With Down Syndrome and Typically Developing Subjects in Resting State and While Conducting Cognitive Tasks
Background: It has been proposed that a hyperactivity of the endocannabinoids system could be involved in the cognitive deficits involved in Down Syndrome (DS).
- Trial name
- EEGDS (NCT04791124)
- Testing
- Electroencephalography
- Where
- Spain
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Parc de Salut Mar
Down Syndrome
Remote Exercise Study for Individuals With Down Syndrome
This pilot study aims to test whether remote delivery of the exercise intervention provides a sufficient training stimulus. This pilot study will be remote and online-only, and will have no in-person interaction, data collection…
- Trial name
- NCT04647851
- Testing
- Remote exercise intervention Down syndrome
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Nevada, Las Vegas
Down Syndrome
Augmentative and Alternative Communication (AAC) and Lexical Gain in Children With Down Syndrome
Children with Down syndrome (DS) have language development particularities that have negative effects in the communication capacity. By this way, Augmentative and Alternative Communication (AAC) is indicated to this population.
- Trial name
- NCT00689988
- Testing
- speech-language therapy with AAC intervention
- Where
- Brazil
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Prader Willi Syndrome, Adrenal Insufficiency
Diagnosis of Central Adrenal Insufficiency in Patients With Prader-Willi Syndrome
The purpose of this study is to determine presence of central adrenal insufficiency in children with Prader Willi Syndrome using low dose (1 mcg) ACTH stimulation test compared to results of overnight metyrapone test.
- Trial name
- NCT02368379
- Testing
- Low dose (1 mcg) ACTH stimulation test, Overnight metyrapone test
- Where
- United States
- Volunteers
- 23 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
Down Syndrome, Trisomy 21
The Human Trisome Project
The Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research.
- Trial name
- HTP (NCT02864108)
- Where
- United States
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver