Clinical trials: Chromosome Abnormality
DiGeorge Syndrome, Velocardiofacial Syndrome
Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems.
- Conditions
- DiGeorge Syndrome, Velocardiofacial Syndrome, 22q11.2 Syndrome
- Trial name
- NCT00105274
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Burden, Caregiver
Social Support and Stress Reduction for Caregivers of Young Adults With IDD
The objective of this study is to evaluate the feasibility and stress reduction impacts of a yoga and support group intervention on caregivers of individuals with intellectual and developmental disabilities.
- Trial name
- CareWell (NCT05938998)
- Testing
- Yoga; Support Group
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Klinefelter Syndrome
Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome
This study will learn more about how the body uses energy. Usually, the body uses sugars as energy first and then fats are used when the sugar stores are gone. Some people have trouble using fats as energy.
- Trial name
- NCT05498090
- Testing
- Fenofibrate 145 mg
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Fragile X Syndrome
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG-Preschool Age
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well.
- Trial name
- NCT05957549
- Testing
- Speech discrimination
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Aneuploidy, Genetic Disease
Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal Genetics
The investigators propose a randomized controlled trial to assess baseline maternal knowledge of and attitudes toward commercial prenatal genetic testing laboratories' genetic privacy practices, and to determine whether a brief…
- Conditions
- Aneuploidy, Genetic Disease, Pregnancy Related
- Trial name
- NCT04420858
- Testing
- Enhanced (experimental) education, Standard (control) education.
- Where
- United States
- Volunteers
- 162 people, healthy volunteers welcome
- Sponsor
- Women and Infants Hospital of Rhode Island
Infertility, Aneuploidy
Invasive PGT-A Embryo Selection Versus Non Invasive PGT-A Assisted Embryo Selection
This is a prospective randomised study of the evaluation of the clinical IVF results after invasive PGT-A embryo selection versus Non-invasive PGT-A assisted embryo selection in subfertile women.
- Conditions
- Infertility, Aneuploidy, Chromosome Abnormality
- Trial name
- NCT05547555
- Testing
- embryo selection
- Where
- Greece
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Assisting Nature
Down Syndrome
Treatment of Sleep Disturbances in School-age Children With Down Syndrome
The investigators long-term goal is to improve outcomes for children with Down syndrome (DS) and their caregivers. Towards that goal, the investigators propose a randomized clinical trial of a behavioral sleep treatment designed…
- Trial name
- NCT02996175
- Testing
- Behavioral Sleep Treatment, Standard of care sleep treatment enhanced with psychoeducation
- Where
- United States
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Infertility
The Cytogenetic Constitution of Embryos Resulting From Immature Oocytes (M1)
To examine the chromosomal number content in the blastomeres of embryos achieved from fertilization of immature oocytes at MI stage recruited following COH for IVF.
- Trial name
- NCT00544531
- Where
- Israel
- Volunteers
- 23,907 people, healthy volunteers welcome
- Sponsor
- Assaf-Harofeh Medical Center
Hypothalamic Obesity, Prader-Willi Syndrome
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment
- Conditions
- Hypothalamic Obesity, Prader-Willi Syndrome, PWS
- Trial name
- NCT06239116
- Testing
- Part C: RM-718, Part D: RM-718
- Where
- 7 sites in United States
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Prader-Willi Syndrome
A 5 Treatment Period Pharmacokinetic Study Evaluating Dose Proportionality and Food Effects of Diazoxide Choline Controlled-Release Tablet (DCCR)
Open label, parallel-group, single site, 5 treatment-period study with 4 dose levels of DCCR, 1 of which is administered both with and without food.
- Trial name
- NCT02893618
- Testing
- Diazoxide choline controlled-release tablet
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Essentialis, Inc.
Diabetes Mellitus Type 2, Prader Willi Syndrome
Liraglutide Use in Prader-Willi Syndrome
Liraglutide is a glucagon like peptide -1 (GLP-1) agonist, which is approved for use in patients with type 2 diabetes. Studies of liraglutide have shown an appetite suppressive effect and has been associated with weight loss in…
- Trial name
- NCT01542242
- Testing
- Liraglutide
- Where
- Canada
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Vancouver General Hospital
Down Syndrome, Physical Inactivity
GameSquad for Adults With Down Syndrome
The investigators are assessing acceptability, appropriateness, and feasibility of the adapted GameSquad-DS intervention using validated scales alongside qualitative data among young adults with Down Syndrome.
- Trial name
- NCT05473247
- Testing
- Ring-Fit Adventure Group
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Down Syndrome, Amyloid Beta-protein
Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid.
To determine the sensitivity of the visual assessment of BAY94-9172 PET images in detecting cerebral β-amyloid in individuals with Down Syndrome (DS) and specificity in individuals without DS.
- Trial name
- NCT00928304
- Testing
- Florbetaben (BAY94-9172)
- Where
- 2 sites in United States
- Volunteers
- 109 people, healthy volunteers welcome
- Sponsor
- Lantheus Biosciences Ltd.
Down Syndrome
Gamma Frequency Stimulation in Individuals With Down Syndrome
Down Syndrome (DS) is characterized by an additional copy of chromosome 21, which also increases risk of Alzheimer's Disease (AD).
- Trial name
- NCT05196984
- Testing
- GENUS device (Active Settings)
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Massachusetts Institute of Technology
Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome
Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
Introduction: Williams-Beuren syndrome is a rare genetic disorder caused by a 7q11.23 microdeletion. The phenotype associates vasculopathy (arterial stenosis, hypertension), dimorphism and intellectual disability.
- Conditions
- Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome, Vasculopathy
- Trial name
- ELAST7 (NCT04051086)
- Testing
- Physical examination and Urine and blood samples, Urine and blood samples
- Where
- France
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Klinefelter Syndrome, Thrombosis
Thrombosis and Neurocognition in Klinefelter Syndrome
The haemostatic balance and neurocognitive capability of men with Klinefelter syndrome is compared to healthy controls by using specific biochemical assays for coagulation and fibrinolysis and a selection of neuropsychological…
- Trial name
- NCT02526628
- Where
- Denmark
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Turner's Syndrome
Effect of Estrogen on Mental and Social Functioning in Girls With Turner's Syndrome
RATIONALE: Turner's syndrome is a disease in which females are missing all or part of one X chromosome and do not produce estrogen. Giving estrogen is standard treatment for girls who have Turner's syndrome.
- Trial name
- NCT00004274
- Testing
- Estrogen
- Where
- United States
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Cardiac Event, Klinefelter Syndrome
TyG Index Levels in Klinefelter Syndrome
It is well known that the frequency of cardiometabolic diseases are increased in patients with Klinefelter Syndrome. The triglyceride-glucose index (TyG index) is a simple surrogate marker of insulin resistance and is also…
- Conditions
- Cardiac Event, Klinefelter Syndrome, Endothelial Dysfunction
- Trial name
- NCT05014997
- Testing
- no intervention
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Gulhane School of Medicine
Down Syndrome
Resilience Training Intervention: Its Effect on Parental Acceptance/Rejection and Burden of Children With Down Syndrome
This research will test whether a resilience training program can help parents of children with Down syndrome feel more accepting of their child and experience less caregiving burden.
- Trial name
- NCT07306923
- Testing
- resilience training intervention
- Where
- Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Ain Shams University