Clinical trials: Cytogenetic Abnormality, active
Angelman Syndrome
Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide.
- Trial name
- EYEANGEL (NCT06737718)
- Testing
- Eye tracking, Data collection from patients' medical files, questionnaires
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Angelman Syndrome
Angelman Syndrome Natural History Study
The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be…
- Trial name
- NCT04507997
- Where
- 11 sites in United States, Canada
- Volunteers
- 300 people
- Sponsor
- Boston Children's Hospital
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
Down Syndrome
Rebound Therapy on Ventilatory Functions in Down Syndrome
The purpose of this study is to examine the effects of rebound therapy on ventilatory functions in children with Down Syndrome.
- Trial name
- NCT07425353
- Testing
- Chest Physical Therapy Protocol, Rebound Therapy Protocol
- Volunteers
- 40 people
- Sponsor
- Beni-Suef University
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Down Syndrome
tDCS for Catatonic Depression in Down Syndrome: A Pilot Study
This study evaluates the efficacy of transcranial direct current stimulation (tDCS) for depression with catatonia in individuals with Down syndrome (DS).
- Trial name
- TOTORO (NCT06866925)
- Testing
- Transcranial stimulation
- Where
- France
- Volunteers
- 62 people
- Sponsor
- Hôpital le Vinatier
Cornelia de Lange Syndrome
Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome
This research project is a randomized cross-over pilot trial which aims to test the efficacy of N-acetylcysteine (NAC) for the treatment of Repetitive Behaviors (RB) and self-injurious behavior (SIB) in patients with Cornelia de…
- Trial name
- NCT04381897
- Testing
- N-acetyl cysteine
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
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
Intrauterine Growth Restriction, Fetal Anomaly
Diagnosis and Management of Intrauterine Growth Restriction and Congenital Anomalies
The purpose of this prospective cohort study is to build a large platform that includes clinical information (prenatal diagnosis and postnatal follow-up data) and biological specimen banks of fetuses/infants with IUGR or…
- Conditions
- Intrauterine Growth Restriction, Fetal Anomaly, Chromosomal Anomalies, Pregnancy
- Trial name
- NCT03398629
- Where
- China
- Volunteers
- 10,000 people
- Sponsor
- Guangzhou Women and Children's Medical Center
Down Syndrome
Effects of Pelvic Girdle Stabililty With Use of Therapeutic Taping in Down Syndrome
A Interventional study on 16 down syndrome pateints and check effects o therapeutic taping on pelvic girdle stability on 8 weeks sessions
- Trial name
- NCT06770218
- Testing
- pelvic girdle stability training and therapeutic tapping, pelvic girdle stability training only
- Where
- 2 sites in Pakistan
- Volunteers
- 16 people
- Sponsor
- Riphah International University
Prader-Willi Syndrome
A Study of Pitolisant in Patients With Prader-Willi Syndrome
This is a Phase 3, randomized, double-blind, placebo-controlled, multicenter, global clinical study to assess the efficacy and safety of pitolisant in patients living with Prader-Willi syndrome.
- Trial name
- NCT06366464
- Testing
- Pitolisant tablet
- Where
- 57 sites in United States, Australia and 11 more
- Volunteers
- 134 people
- Sponsor
- Harmony Biosciences Management, Inc.
Obstructive Sleep Apnea, Down Syndrome
Medications for Obstructive Sleep Apnea to Improve Cognition in Children With Down Syndrome
This is an open-label study of the combination of atomoxetine and oxybutynin (ato-oxy) in children with Down syndrome and obstructive sleep apnea (OSA) documented by polysomnography (PSG).
- Trial name
- MOSAIC (NCT05933603)
- Testing
- Atomoxetine and Oxybutynin (ato-oxy)
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- University of Arizona
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
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)
Prader-Willi Syndrome
The Intervention of Obesity in Children With Prader-Willi Syndrome Using Prebiotics and Probiotics
Prader-Willi syndrome (PWS) is a rare genetic disease, with hyperappetite and severe obesity. At present, there is no effective drugs and interventions to help control the appetite of PWS patients.
- Trial name
- NCT05791604
- Testing
- probiotics including B. lactis B420, B. lactis HN019, B. animalis Bb-12, L. rhamnosus GG, Prebiotics with galactomannan and oligofructose
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Fudan University
Down Syndrome, Acute Lymphoblastic Leukemia
ASIA Down Syndrome Acute Lymphoblastic Leukemia 2016
To evaluate the outcome of a prednisolone and low dose methotrexate based protocol in Down syndrome children with ALL (DS-ALL) in an Asia-wide study.
- Conditions
- Down Syndrome, Acute Lymphoblastic Leukemia, Childhood Cancer
- Trial name
- NCT03286634
- Testing
- Daunorubicin, Prednisolone, Vincristine
- Where
- 10 sites in Hong Kong, Japan and 4 more
- Volunteers
- 60 people
- Sponsor
- National Hospital Organization Nagoya Medical Center
High Grade Serous Adenocarcinoma of Ovary, Fallopian Tube Cancer
A Study of Sovilnesib in Subjects With Ovarian Cancer
This is a phase 1b study to assess the safety, tolerability, pharmacokinetics (PK), and preliminary efficacy of sovilnesib at different dose levels to establish the optimal dose of sovilnesib in subjects with selected advanced…
- Conditions
- High Grade Serous Adenocarcinoma of Ovary, Fallopian Tube Cancer, Primary Peritoneal Carcinoma, Chromosomal Instability
- Trial name
- NCT06084416
- Testing
- Sovilnesib
- Where
- 11 sites in United States
- Volunteers
- 150 people
- Sponsor
- Volastra Therapeutics, Inc.
Silver Russell Syndrome, Beckwith-Wiedemann Syndrome
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of…
- Conditions
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome
- Trial name
- IDMet (NCT05945576)
- Where
- 20 sites in France
- Volunteers
- 2,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Aortopathies, Thoracic Aortic Aneurysm
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by…
- Conditions
- Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease
- Trial name
- TAA (NCT03440697)
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Yale University