Clinical trials: Cytogenetic Abnormality
Down Syndrome, Hemiparesis
Kinematic Analysis of Manual Dexterity
The following study aims to standardize the instrumented BBT for the objective evaluation of upper limb joint kinematics using MoCap on a population of healthy subjects between 4 and 18 years of age.
- Conditions
- Down Syndrome, Hemiparesis, Healthy Subjects
- Trial name
- SUPERFUN (NCT07875127)
- Testing
- Inertial Measurement Unit and Box and Block test
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele Roma
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
AML
LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML)
The purpose of this study is to evaluate the effectiveness of post-induction lenalidomide in patients with de novo AML with deletion 5q cytogenetic abnormality (del (5q)) or monosomy 5 (-5), who obtained complete remission after…
- Trial name
- NCT01198054
- Testing
- Lenalidomide
- Where
- 12 sites in Spain
- Volunteers
- 4 people
- Sponsor
- PETHEMA Foundation
Autism Spectrum Disorder, Fra(X) Syndrome
Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome
The purpose of this study is to accumulate and quantitatively analyze data on the microbiome, serotonin signaling and genetics, and inflammatory cytokines from patients with Autism Spectrum Disorder and Fragile X Syndrome.
- Trial name
- NCT04869930
- Testing
- specimen collection
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Nova Mentis Life Science Corp
Hepatocellular Carcinoma
A Study of Chromosomal Abnormalities as a Predictor of Staging and Prognosis in Patients With Liver Cancer
Liver cancer is one of the most common malignant tumors worldwide with high morbidity and mortality, and hepatocellular carcinoma (HCC) is the main histological subtype.
- Trial name
- NCT05371873
- Testing
- Liver resection method
- Where
- China
- Volunteers
- 250 people
- Sponsor
- First Affiliated Hospital of Zhejiang University
Klinefelter Syndrome
Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome
The study seeks primarily to determine whether modulation of systemic and testicular sex steroids balance by aromatase inhibitors will positively affect the metabolic health and spermatogenesis of men with Klinefelter syndrome…
- Trial name
- KLIN-HEALTH (NCT05586802)
- Testing
- Anastrozole, Semaglutide, human chorionic gonadotropin
- Where
- Switzerland
- Volunteers
- 150 people
- Sponsor
- Georgios Papadakis
Down's Syndrome
Eyelash Line Resection for Entropion Associated With Down's Syndrome
Surgical outcome of entropion associated with Down's syndrome was evaluated. Grading scale of superficial punctate keratopathy and score of wearing glasses to correct refractive errors were measured.
- Trial name
- NCT01758718
- Testing
- Eyelash line resection
- Where
- Japan
- Volunteers
- 24 people
- Sponsor
- Kyorin University
Chromosomal Instability, Low Grade Dysplasia Oral Cavity
Diagnostics for the Treatment of Progressive Mucosal Lesions of the Oral Cavity: a Prospective Study
Despite improvements in therapy, head and neck carcinomas still have a poor prognosis with a 5-year survival of ~ 50%. Malignancies of the head and neck area are (almost) always preceded by precursor lesions.
- Conditions
- Chromosomal Instability, Low Grade Dysplasia Oral Cavity, Loss of Heterozygostiy, Fluorescence In Situ Hybridization
- Trial name
- NCT02238574
- Testing
- surgery, follow up
- Where
- Netherlands
- Sponsor
- Maastricht University Medical Center
Cytogenetic Abnormality, Radiation Exposure
Genomic Instability in Vascular Surgeons
The past two decades have witnessed the development and growth of the endovascular techniques, however, this new technology is not exempt from risks, since its use requires an ionizing radiation exposure to both patients and…
- Trial name
- IRADIENT (NCT04363190)
- Testing
- Cytogenetic analysis
- Where
- Spain
- Volunteers
- 28 people
- Sponsor
- Hospital Clínico Universitario de Valladolid
Genetic Disorder, Turner Syndrome
Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome
This trial is conducted in Europe. The aim of this trial is to assess whether increasing doses of somatropin (Norditropin®) can maintain the initial increase in height velocity and improve final height.
- Trial name
- NCT01518062
- Testing
- somatropin, oestrogen
- Where
- Netherlands
- Volunteers
- 65 people
- Sponsor
- Novo Nordisk A/S
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
An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Angelman syndrome
- Trial name
- AS-001 (NCT05011851)
- Testing
- NNZ-2591
- Where
- 3 sites in Australia
- Volunteers
- 17 people
- Sponsor
- Neuren Pharmaceuticals Limited
Mild Cognitive Impairment
Effects of Shuttle Balance Training on Balance , Gait and Postural Control in Children With Mild Cognitive Impairment
This study aims to investigate the impact of Shuttle Balance Training (SBT) on balance, gait, and postural control among children diagnosed with mild cognitive impairment (MCI).
- Trial name
- NCT06974890
- Testing
- Shuttle Balance Training, Baseline Treatment
- Where
- Pakistan
- Volunteers
- 24 people
- Sponsor
- Riphah International University
Infertility, Female, Infertility, Male
Embryo Assessment Utilizing Timelapse Imaging in Conjunction With Preimplantation Genetic Testing for Aneuploidy With Next Generation Sequencing
The goal of this observational study is to discern if there is a relationship between timelapse imagery of human oocytes/embryos and PGT results.
- Conditions
- Infertility, Female, Infertility, Male, Infertility, IVF
- Trial name
- NCT06419127
- Testing
- Timelapse incubation and PGT
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Gattaca Genomics
Down Syndrome
Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome
The purpose of this 16-week research study is to determine whether a drug called memantine hydrochloride (memantine) has the potential to help improve memory and other cognitive abilities of young adults with Down syndrome (DS).
- Trial name
- NCT01112683
- Testing
- Memantine
- Where
- United States
- Volunteers
- 42 people
- Sponsor
- University of Colorado, Denver
Obstructive Sleep Apnea (OSA), Down Syndrome
Endotype DIrected Treatment for OSA in Down Syndrome
Down syndrome is the most common genetic cause of intellectual disability. People with Down syndrome often have obstructive sleep apnea (OSA), a condition where people have difficulties with breathing while asleep.
- Trial name
- EDIT OSA (NCT07280468)
- Testing
- ato-oxy, Oxygen
- Where
- 5 sites in United States
- Volunteers
- 200 people
- Sponsor
- University of Arizona
Chronic Myelogenous Leukemia (CML)
Compliance: Role Emerges for Success in Chronic Myelogenous Leukaemia (CML): Evaluation aND Optimisation
This study on patient's compliance in clinical workaday life aims to assess and to improve CML treatment in Germany by means of adherence supporting measures and to increase adherence awareness by physicians and patients.
- Trial name
- Crescendo (NCT01243489)
- Testing
- compliance supporting measures
- Where
- 23 sites in Germany
- Volunteers
- 104 people
- Sponsor
- Gesellschaft fur Medizinische Innovation - Hamatologie und Onkologie mbH
Genetic Disorder, Turner Syndrome
Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome
This trial is conducted in Europe. The aim of the trial is to induce normal pubertal development in girls with Turner Syndrome in accordance with that of their peers and their individual state psychosocial maturation.
- Trial name
- NCT01710696
- Testing
- 17-beta estradiol
- Where
- 28 sites in Spain
- Volunteers
- 50 people
- Sponsor
- Novo Nordisk A/S
Down Syndrome, Gross Motor Development Delay
Investigating Trunk Control in Young Children With Down Syndrome
Overall, the purpose of this dissertation research is to investigate trunk control in young children with DS. This will be done in three studies: 1.
- Trial name
- NCT03544840
- Testing
- Physical Therapy Home Program
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Texas Woman's University
Aneuploidy, Pregnancy
The Effect of Co Enzyme Q10 Together With Fertility Drugs on Pregnancy Outcome of in Vitro Fertilization
The goal of our research is to increase live birth rates in infertile women and to reduce the incidence of aneuploidy leading to miscarriage and trisomies.
- Conditions
- Aneuploidy, Pregnancy, Miscarriage
- Trial name
- CoQ10-IVF (NCT01048385)
- Testing
- Coenzyme Q10 concomitant treatment
- Where
- Canada
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- University of Toronto