Clinical trials: Cytogenetic Abnormality
Fragile X Syndrome
Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome
The study objective is to explore the efficacy, safety and tolerability of STX209 for treatment of irritability in subjects with FSX.
- Trial name
- NCT00788073
- Testing
- STX209
- Where
- 12 sites in United States
- Volunteers
- 63 people
- Sponsor
- Seaside Therapeutics, Inc.
Neuroblastoma
Studying Chromosomes in Samples From Younger Patients With Neuroblastoma
This research studies chromosomes in samples from younger patients with neuroblastoma. Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and…
- Trial name
- NCT01589341
- Testing
- laboratory biomarker analysis
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Children's Oncology Group
Williams Syndrome
Clemastine Treatment in Individuals With Williams Syndrome
This study explores the neurobiological etiology of Williams syndrome and potential therapeutic targets for associated social, motor, and cognitive abnormalities.
- Trial name
- NCT06087757
- Testing
- Open Label Clemastine with a blinded randomize withdrawal
- Where
- 2 sites in Israel
- Volunteers
- 30 people
- Sponsor
- Sheba Medical Center
Down Syndrome
Aerobic Exercise With and Without Low Calorie Diet on Adiposity and BMI of Down Syndrome
Down syndrome (DS) is caused by trisomy 21, or the presence of an extra copy of chromosome 21. A calibrated weight scale is used to measure participants' weight accurately.
- Trial name
- NCT06943170
- Testing
- Aerobic Exercise and Low Calorie Diet
- Where
- Pakistan
- Volunteers
- 22 people
- Sponsor
- Riphah International University
Down Syndrome
Action Observation Therapy on Balance in Children With Down Syndrome
Down syndrome is a condition in which a child is born with an extra copy of their 21st chromosome hence its other name is trisomy 21.
- Trial name
- NCT06198075
- Testing
- Control Group, Experimental Group
- Where
- Pakistan
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Turner Syndrome, Peripheral Angiopathy
AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome)
Turner syndrome is a genetic condition, rare, due to the total or partial absence of one X chromosome, affecting 1/2500 newborn female. It combines almost constantly short stature and ovarian failure with infertility.
- Conditions
- Turner Syndrome, Peripheral Angiopathy, Vascular Malformation, Lymphedema
- Trial name
- AVAST (NCT02250456)
- Testing
- Echo doppler
- Where
- 6 sites in France
- Volunteers
- 72 people
- Sponsor
- University Hospital, Strasbourg, France
Angelman Syndrome
A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome
The purpose of this study is to evaluate the safety and efficacy of MVX-220 gene therapy in children and adults with Angelman syndrome with UBE3A gene deletion, uniparental disomy, or imprinting center defect genotypes.
- Trial name
- ASCEND-AS (NCT07181837)
- Testing
- MVX-220
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- MavriX Bio, LLC
Down Syndrome
Assessing the Feasibility of the Use of Visual Aids in Patient Education in Adults With Down Syndrome (DS)
Purpose: To assess the feasibility of using videos depicting people with DS to teach other adults with DS to perform healthy behaviors.
- Trial name
- NCT02895802
- Testing
- Verbal instructions with picture diagram, Verbal instructions with video of ADSC, verbal instructions w. video of w/o DS
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Alzheimer's Disease, Down Syndrome
Multicenter Vitamin E Trial in Aging Persons With Down Syndrome
The purpose of this study is to determine the safety and effectiveness of 2,000 international units of Vitamin E (alpha tocopherol)on cognitive function of aging persons with Down syndrome.
- Trial name
- NCT01594346
- Testing
- Alpha-Tocopherol, Sugar Pill
- Volunteers
- 349 people
- Sponsor
- New York State Institute for Basic Research
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
Trisomy 21, Trisomy 18
Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood
Each year, 450,000 Canadian women become pregnant and, as a result of their participation in prenatal screening for Down syndrome, approximately 10,000 of them will have an amniocentesis (i.e.
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- PEGASUS (NCT01925742)
- Testing
- Integrated prenatal screening for Down's syndrome, Serum QUAD Assay for aneuploidy screening, Semiconductor MPSS NIPT assay using ccfDNA in maternal blood
- Where
- 5 sites in Canada
- Volunteers
- 3,819 people, healthy volunteers welcome
- Sponsor
- CHU de Quebec-Universite Laval
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
Smoking
Effectiveness of Messages to Mobile Phone in Smoke Cessation
Smoking remains a major risk factor for chronic diseases and is a real problem for health systems. The use of emerging technologies, such as mobile phone , may have a important role in smoking cessation programs through sending…
- Trial name
- NCT01746069
- Testing
- Quit smoking combined cessation programme, health advice
- Where
- Spain
- Volunteers
- 320 people
- Sponsor
- Basque Health Service
Sarcoma, Kaposi, Lymphoma, Non-Hodgkin
A Study of Patients With AIDS Syndrome
The purpose of this study is to find out why cancers develop in HIV-positive patients. Cancer is a leading cause of death in AIDS patients.
- Conditions
- Sarcoma, Kaposi, Lymphoma, Non-Hodgkin, HIV Infections, Lymphoma, AIDS-Related
- Trial name
- NCT00001120
- Where
- 23 sites in United States
- Volunteers
- 5,000 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome
There will be four study periods: Screening (up to 14 days in length), the Treatment Period (8 weeks), the Withdrawal Period (22 days), and Follow-up Period (up to 31 days).
- Trial name
- Harbor-C (NCT01325220)
- Testing
- arbaclofen
- Where
- 28 sites in United States
- Volunteers
- 172 people
- Sponsor
- Seaside Therapeutics, Inc.
Fragile X Syndrome
Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)
This study is a multicenter, double-blind, randomized, placebo-controlled study to assess the safety and tolerability of 3 doses of MRM-3379 in male participants with Fragile X Syndrome ages 16 to 45 (inclusive).
- Trial name
- NCT07209462
- Testing
- Low dose of MRM-3379, Middle Dose of MRM-3379, High dose of MRM-3379
- Where
- 18 sites in United States, Spain
- Volunteers
- 60 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Down Syndrome, Mild Cognitive Impairment
Nicotine Treatment of Cognitive Decline in Down Syndrome
This study will ascertain whether nicotine is safe and tolerable in DS patients, help with dose-ranging of nicotine in DS, look for evidence of enhancements in cognitive functioning, and establish evidence for biological and…
- Trial name
- NCT01778946
- Testing
- Low Dose Nicotine (7mg), Moderate Dose Nicotine (14mg)
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Vanderbilt University Medical Center
Prader-Willi Syndrome
Therapeutic Effects of Hippotherapy in Children With Prader-Willi Syndrome
This study evaluates the therapeutic effects of hippotherapy in children with Prader-Willi syndrome. Half of children will participate in hippotherapy for 15 weeks (30 minutes per sessions, twice a week, total 30 sessions…
- Trial name
- NCT03858023
- Testing
- Hippotherapy
- Where
- South Korea
- Volunteers
- 30 people
- Sponsor
- Samsung Medical Center
Mental Disorders
Effects of Emotion on Episodic Memory in Typically Developing Children and Children With Williams-Beuren Syndrome
It's well established in the literature that emotional events are more likely to be remembered than neutral events. Although this Emotional Enhancement of Memory (EEM) has been well demonstrated in the adult literature, little is…
- Trial name
- EEM-TAdev (NCT03688516)
- Testing
- Manipulation of valence and modality, Spatial and recognition memory, Source and content memory
- Where
- France
- Volunteers
- 280 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier
Williams Beuren Syndrome, Williams Syndrome
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23…
- Conditions
- Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
- Trial name
- NCT06930417
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania