Clinical trials: Chromosome Abnormality
Down's Syndrome
Treadmill Training With and Without Weighted Ankle Cuffs on Gait Parameters
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small "packages" of genes in the body. Down syndrome (DS), also known as trisomy 21, is caused by the presence of all or part of a third copy…
- Trial name
- NCT06176755
- Testing
- Treadmill training with weighted ankle cuffs, Treadmill training
- Where
- Pakistan
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Prader-Willi Syndrome
A 2-Part Study to Assess Efficacy, Safety and Tolerability of BMB-101 for the Treatment of Patients With Prader-Willi Syndrome.
The goal of this clinical trial is to evaluate the safety and effects of a new drug called BMB-101 in people with Prader-Willi Syndrome (PWS).
- Trial name
- NCT07266324
- Testing
- BMB-101
- Where
- 2 sites in Australia
- Volunteers
- 16 people
- Sponsor
- Bright Minds Biosciences Pty Ltd
Developmental Disabilities, Weight Loss
Weight Management for Adolescents With IDD
The goal of this study is to explore the impact of two different diets (conventional vs. enhanced stop light) and two different delivery systems (face-to-face vs.
- Conditions
- Developmental Disabilities, Weight Loss, Body Weight, Down Syndrome
- Trial name
- IDDAdol (NCT02561754)
- Testing
- Enhanced Stop Light Diet (eSLD), Conventional Diet (CD), Face-to-face (FTF)
- Where
- 2 sites in United States
- Volunteers
- 110 people
- Sponsor
- University of Kansas Medical Center
Down Syndrome (DS), Keratoconus
Compassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome
The goal of this clinical trial is to study the effects of an experimental (not Food and Drug Administration (FDA)-approved) treatment called corneal crosslinking (CXL) for conditions in which the cornea becomes progressively…
- Conditions
- Down Syndrome (DS), Keratoconus, Pellucid Marginal Degeneration, Forme Fruste Keratoconus (FFK)
- Trial name
- NCT07135167
- Testing
- Epi-ON corneal cross-linking (CXL)
- Where
- 12 sites in United States
- Volunteers
- 225 people
- Sponsor
- Woolfson Eye Institute
Infertility
PICSI Impact on Euploidy in Assisted Reproduction
Hyaluronic acid (HA) is a major component of the cumulus complex surrounding oocytes. Intracytoplasmic sperm injection (ICSI) involves injection of a selected sperm into the oocyte.
- Trial name
- NCT06602687
- Testing
- PICSI
- Where
- Ireland
- Volunteers
- 142 people
- Sponsor
- Merrion Fertility Clinic
Osteoporosis
Skeletal Health of Klinefelter Patients
This study compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers.
- Trial name
- NCT03704987
- Testing
- dual-energy X-ray absorptiometry
- Where
- Turkey (Türkiye)
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- TC Erciyes University
Down Syndrome
Investigating the Impact of JASPER Behavioral Therapy in Children With Down Syndrome
In this study, investigators will study the impact of a 1:1 caregiver coaching intervention using the JASPER (Joint Attention, Symbolic Play, Engagement, Regulation) behavioral therapy curriculum compared to a psychoeducational…
- Trial name
- NCT05638412
- Testing
- JASPER, Psychoeducational Curriculum
- Where
- United States
- Volunteers
- 103 people
- Sponsor
- Boston Children's Hospital
Prader-Willi Syndrome
CBDV vs Placebo in Children and Adults up to Age 30 With Prader-Willi Syndrome (PWS)
This study aims to examine the feasibility and safety of cannabidivarin (CBDV) as a treatment for children and young adults with PWS.
- Trial name
- NCT03848481
- Testing
- CBDV Compound
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Eric Hollander
Healthy
Open-Label, Placebo-Controlled, Parallel Group Study in Healthy Volunteers to Evaluate the Effects of Two Single MT 400 or Naproxen Sodium Tablets
This is an open-label, parallel group, single-center study. The study design consists of a screening and a treatment period. A total of 42 (approximately 21 of each sex) non-smoking healthy volunteers aged 18 - 35.
- Trial name
- NCT00596245
- Testing
- MT400
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Physical Conditioning, Human
Effect of Rhythmic Gymnastics Training in Children With Down Syndrome
Some of the clinical characteristics of people with Down syndrome (DS) are orthopedic, cardiovascular, neuromuscular, visual, cognitive and perceptual disorders, which directly affect the quality of their movements.
- Trial name
- NCT06284707
- Testing
- swimming training, rhythmic gymnastics training
- Where
- Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Castilla-La Mancha
Prader Willi Syndrome, Obesity
Characterization of Transcriptional Regulators of Ghrelin Hormone Which Causes Genetic Obesity
The problem point of the Prader-Willi Syndrome (PWS) patient is the obesity which is intense and the plasma ghrelin level which increases unusual from the recently PWS patients was discovered.
- Trial name
- NCT01404624
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Chromosomal Abnormalities
Preimplantation Genetic Screening in Women of Advanced Maternal Age
An increased incidence of aneuploid pregnancies has been reported in women of advanced maternal age, with higher miscarriage rates.
- Trial name
- NCT00795795
- Testing
- Preimplantation Genetic Screening, IVF without PGS
- Where
- Spain
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- Instituto Valenciano de Infertilidad, IVI VALENCIA
Prader-Willi Syndrome, Obesity
Plasma Adiponectin Level and Sleep Structures in Children With Prader-Willi Syndrome
Context: Adiponectin is an adipose tissue-derived hormone with an insulin sensitizing effect, and has been related to obstructive sleep apnea syndrome.
- Trial name
- NCT01622751
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Down Syndrome, Intellectual Disability
Down Syndrome Memantine Follow-up Study
The purpose of this research study is to learn if the medication Memantine Hydrochloride (the study medication) can help adolescents and young adults with Down syndrome. Dr.
- Trial name
- NCT02304302
- Testing
- Memantine
- Where
- 2 sites in United States, Brazil
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- University Hospitals Cleveland Medical Center
Down Syndrome
Trisomy 21 in Adulthood
Trisomy 21 or Down syndrome, is the most common genetic cause of cognitive disability. Currently, in Alsace, the birth prevalence is about 1 in 1600 live births, which means 10 liveborns with Down syndrome each year.If screening…
- Trial name
- NCT01663675
- Testing
- karyotype
- Where
- France
- Volunteers
- 80 people
- Sponsor
- University Hospital, Strasbourg, France
Prader-Willi Syndrome
Phase 3 Study of Intranasal Carbetocin (LV-101) in Patients With Prader-Willi Syndrome
This Phase 3 study is designed to test the effectiveness of intranasal carbetocin (LV-101) in participants with Prader-Willi syndrome (PWS). Carbetocin is an oxytocin analog (a man-made chemical that is like oxytocin).
- Trial name
- CARE-PWS (NCT03649477)
- Testing
- 3.2 mg intranasal carbetocin, 9.6 mg intranasal carbetocin
- Where
- 24 sites in United States, Australia and 1 more
- Volunteers
- 130 people
- Sponsor
- Levo Therapeutics, Inc.
Klinefelter Syndrome, Diabetes
Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome
Klinefelter syndrome (KS) is the most common sex-chromosome disorder with a prevalence of one in 660 men and is a frequent cause of hypogonadism and infertility.
- Conditions
- Klinefelter Syndrome, Diabetes, Osteoporosis, Metabolic Syndrome
- Trial name
- NCT00523835
- Where
- Denmark
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
22q11.2 Deletion Syndrome, Velo-Cardio-Facial Syndrome
Cognitive Remediation in 22q11DS
The goal of this study is to collect preliminary data on the efficacy of a cognitive remediation program in improving the neurocognitive deficits in children with chromosome 22q11.2 deletion syndrome (22q11DS).
- Trial name
- NCT01781923
- Testing
- Cognitive remediation program, Small group social skills training
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Duke University
B-NHL, B-Non Hodgkin Lymphoma
CD19/CD22 Bicistronic Chimeric Antigen Receptor (CAR) T Cells in Children and Young Adults With Recurrent or Refractory B Cell Malignancies
Background: Acute lymphoblastic leukemia (ALL) is the most common cancer in children. About 90% of children and young adults who are treated for ALL can now be cured.
- Conditions
- B-NHL, B-Non Hodgkin Lymphoma, Acute Lymphocytic Leukemia, Acute Lymphoblastic Leukemia
- Trial name
- NCT05442515
- Testing
- CD19/CD22-CAR-transduced T cells, cyclophosphamide, fludarabine
- Where
- United States
- Volunteers
- 130 people
- Sponsor
- National Cancer Institute (NCI)
Turner's Syndrome
An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG
Children with growth failure due to inadequate secretion of growth hormone or growth retardation due to Turner's syndrome are individually dosed and treated for 12 weeks
- Trial name
- NCT00250250
- Testing
- ZOMACTON
- Where
- 6 sites in Czechia, France and 1 more
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Ferring Pharmaceuticals