Clinical trials: Chromosome Disorders
Fragile X Syndrome, Autism Spectrum Disorder
Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders
Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals.
- Conditions
- Fragile X Syndrome, Autism Spectrum Disorder, Autistic Disorder, Asperger Syndrome
- Trial name
- ENTRAIN (NCT06227780)
- Testing
- Alpha Auditory Entrainment
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Complicated Twin Pregnancy
The Value of Prenatal Ultrasound in Complicated Twin Pregnancy and Its Correlation With Chromosomal Anomalies
Recent years, women with infertility have become more and more and thus assisted reproductive technology has been applied in a broad range. And the quantities of twin pregnancies are larger and larger.
- Trial name
- NCT02732717
- Testing
- ultrasound (observation)
- Where
- China
- Volunteers
- 580 people, healthy volunteers welcome
- Sponsor
- First Affiliated Hospital Xi'an Jiaotong University
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Autism Spectrum Disorders
Social Interactions: Ocular Explorations and Pupillometry in Autism
The primary objective of this work will first to characterize in typical childhood, visual exploratory behavior and pupillary response associated with salience of human social stimuli (faces and body movements), and then to…
- Trial name
- ISEOP (NCT01647295)
- Where
- France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism
Growing up With the Young Endocrine Support System (YESS!)
Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out…
- Conditions
- Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism, Growth Hormone Deficiency, Combined Pituitary Hormone Deficiency
- Trial name
- YESS (NCT04252001)
- Testing
- YESS! game, Snake '97, Transition-toolkit
- Where
- 7 sites in Belgium, Netherlands and 2 more
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Sotos Syndrome, Beckwith-Wiedemann Syndrome
Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development
Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve an excessive growth of the whole body or of specific body parts.
- Conditions
- Sotos Syndrome, Beckwith-Wiedemann Syndrome, Overgrowth Syndrome, Body Image
- Trial name
- Body-PROBAND (NCT04993235)
- Testing
- NEPSY-II, CBCL and AQ questionnaires, BUT questionnaire and experimental tasks
- Where
- Italy
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Down Syndrome, Polyendocrinopathies, Autoimmune
Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome
This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome.
- Conditions
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
- Trial name
- NCT02421276
- Testing
- Phlebotomy
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Turner Syndrome
Effects of Adrenal Androgens on Gender-typed Behavior in Girls With Turner Syndrome
Turner syndrome (TS) is a genetic disorder in which there is loss of all or part of the second X chromosome and occurs in 1/2500 live female births.
- Trial name
- NCT05346159
- Testing
- the correlation between level of adrenal androgen and gender-typed behavior in Girls with TS
- Where
- Egypt
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Sohag University
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)
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
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
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