Clinical trials: Chromosome Abnormalities
Transcutaneous Vagal Nerve Stimulation (tVNS), Prader-Willi Syndrome
Proof of Concept Study of Vagus Nerve Stimulation
The investigator's recent pilot study of vagus nerve stimulation (VNS) from a surgically implanted medical device to control the excess eating behaviour characteristic of Prader-Willi Syndrome (PWS) found that it was safe and…
- Trial name
- NCT03689621
- Testing
- Transcutaneous vagus nerve stimulation (tVNS)
- Volunteers
- 9 people
- Sponsor
- Jessica Beresford-Webb
Turner Syndrome, Infertility, Female
Turner Syndrome Minipuberty Study
Rationale: Due to accelerated germ cell loss, infertility is a major problem in girls with Turner syndrome (TS). Therefore, cryopreservation of ovarian tissue or oocytes before exhaustion of the ovarian reserve may preserve…
- Conditions
- Turner Syndrome, Infertility, Female, Premature Ovarian Failure, Gonadal Dysgenesis
- Trial name
- Minipuberty (NCT04189406)
- Testing
- Venapunction
- Where
- 13 sites in Denmark, Germany and 3 more
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Congenital Heart Disease
Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown.
- Trial name
- NCT01192048
- Testing
- Blood Sample Collection
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
Autism Spectrum Disorder, Down Syndrome
Video Based Breathing Exercise Rehabilitation
The aim of the study was to investigate the effect of video game-based lung volume increasing training on respiratory mechanics in children with developmental delays.
- Trial name
- NCT06125990
- Testing
- Experimental: Study Group (SGr)
- Where
- Turkey (Türkiye)
- Volunteers
- 18 people
- Sponsor
- Saglik Bilimleri Universitesi
Alzheimer's Disease in Down Syndrome
Down Syndrome Clinical Trials - Study of Alzheimer's Disease in Down Syndrome
The primary objective is to characterize trajectories of change on the primary outcome measures in this study population through longitudinal collection of measures of cognition, function, behavior, and health status.
- Trial name
- LIFE-DSR (NCT04149197)
- Where
- 14 sites in United States
- Volunteers
- 252 people
- Sponsor
- LuMind IDSC Foundation
Embryo Aneuploidies
Embryo Aneuploidies and Ovarian Stimulation
There is a considerable concern about the effects of controlled ovarian hyperstimulation (COH) for In Vitro Fertilization- Embryo Transfer (IVF-ET) on embryo quality and on the incidence of chromosomal abnormalities in oocytes…
- Trial name
- NCT00707525
- Testing
- Preimplantation Genetic Diagnosis
- Where
- Spain
- Volunteers
- healthy volunteers welcome
- Sponsor
- Instituto Valenciano de Infertilidad, IVI VALENCIA
Fragile X Syndrome
Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001
The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22001 will be offered participation in 22001A which will evaluate secreted protein before and after treatment with STX209 and…
- Trial name
- NCT00823368
- Testing
- STX209
- Where
- 11 sites in United States
- Sponsor
- Seaside Therapeutics, Inc.
Down Syndrome
A 4-Week Safety Study of Oral ELND005 in Young Adults With Down Syndrome Without Dementia
This is a prospective, randomized, double-blind, placebo-controlled, parallel-group, three-arm, multicenter study of the safety and PK of ELND005 administered orally for 4 weeks.
- Trial name
- DS201 (NCT01791725)
- Testing
- ELND005
- Where
- 3 sites in United States
- Volunteers
- 23 people
- Sponsor
- OPKO Health, Inc.
Autism Spectrum Disorder
An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder
The investigators hypothesize that EPI-743 may provide clinical benefit to children with Autism Spectrum Disorder.
- Trial name
- Autism (NCT02226458)
- Testing
- EPI-743
- Sponsor
- Edison Pharmaceuticals Inc
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
Fragile X Syndrome
Effect of CBD on the Brain
This proposal focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD).
- Trial name
- NCT06261450
- Testing
- CBD Oral Solution (eCBD system Target)
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Université de Sherbrooke
Down Syndrome
Efficacy of Bumetanide to Improve Cognitive Functions in Down Syndrome
The aim of the study is to evaluate the clinical efficacy of a known diuretic drug, Bumetanide, in terms of improvement of memory and psychological functioning in children and adolescents with Down syndrome (DS), in order to…
- Trial name
- NCT06465823
- Testing
- Bumetanide
- Where
- Italy
- Volunteers
- 64 people
- Sponsor
- Stefano Vicari
Down Syndrome, Fetal Aneuploidy
Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.
- Trial name
- NCT01429389
- Where
- 14 sites in United States, Canada
- Volunteers
- 2,000 people
- Sponsor
- Sequenom, Inc.
Down Syndrome
Rivastigmine Study in Adolescents With Down Syndrome
The purpose of this study is to determine if short term use of rivastigmine can improve functional abilities (for example, language, memory, and executive function) in adolescents with Down syndrome.
- Trial name
- DS-Riv (NCT01084135)
- Testing
- Rivastigmine
- Where
- 2 sites in United States
- Volunteers
- 42 people
- Sponsor
- Duke University
Autosomal Recessive Disorder, Aneuploidy
Prenatal Computer-Aided Genetics Education Module
A standard part of obstetrical care is offering prenatal genetic screening. Numerous professional guidelines have emphasized the importance of pretest counseling for prenatal genetic screenings.
- Trial name
- CAGEM (NCT03449225)
- Testing
- Computer-Aided Genetic Education Module
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Wayne State University
Cerebral Palsy, Autism
Rehabilitation of Children With Multiple Disabilities
The objective of the study is to compare the usual care and treatment of children and youth (0-19 years) with multiple developmental delays and disabilities and their families in Simcoe York with a co-ordinated, navigated…
- Conditions
- Cerebral Palsy, Autism, Down's Syndrome, Brain Injury
- Trial name
- NCT01379443
- Testing
- CTN model of care for children and their families
- Where
- Canada
- Volunteers
- 445 people
- Sponsor
- Children's Treatment Network
Prader-Willi Syndrome
A Study of Oral ARD-101 in Patients With Prader-Willi Syndrome
A Phase 2, Single-Arm, Open-Label Study to Evaluate the Safety and Efficacy of ARD-101 in Patients with Prader-Willi Syndrome
- Trial name
- NCT05153434
- Testing
- ARD-101
- Where
- 2 sites in United States
- Volunteers
- 19 people
- Sponsor
- Aardvark Therapeutics, Inc.
Philadelphia Positive Acute Lymphoblastic Leukemia
Study of Frontline Dasatinib Plus Chemotherapy in Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (PH+ALL)
The current standard treatment approach for young patients with Positive Acute Lymphoblastic Leukemia (Ph+ALL) is the combination of a chemotherapy protocol employing four to five cytotoxic agents typically used for ALL together…
- Trial name
- NCT01724879
- Testing
- Dasatinib
- Where
- 22 sites in Germany
- Volunteers
- 19 people
- Sponsor
- Goethe University
Posture, Balance
Training Balance Among People With Neurodevelopmental Disabilities
This study is a case control pilot study to investigate the impact of a short-term intervention on training anticipatory postural adjustments in a population of people with neurodevelopmental disabilities.
- Conditions
- Posture, Balance, Cerebral Palsy, Autism
- Trial name
- TAPAS (NCT04293120)
- Testing
- Training with weighted ball
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- University of Hartford
Aneuploidy, Pregnancy Complications
Use of a Novel Computerized Decision Aid for Prenatal Aneuploidy Screening
The investigators aim to assess whether use of a novel, tablet-based computerized decision aid for aneuploidy screening is similar to routine care with a brief genetic counseling visit in improving patient knowledge and…
- Trial name
- DAAS (NCT02991729)
- Testing
- iPad-based decision aid, Genetic counseling appointment
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
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