Clinical trials: Chromosome Disorders
Obstructive Apnea
Comparison of a Demand Oxygen Delivery
Conducting a randomized control trial of oxygen in children with Down syndrome to treat moderate to severe obstructive sleep apnea.
- Trial name
- DOSA (NCT06609694)
- Testing
- Portable oxygen concentrator Inogen G5 model
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
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
B Acute Lymphoblastic Leukemia, CD19 Positive
CD19/CD22 Chimeric Antigen Receptor (CAR) T Cells With or Without NKTR-255 in Adults With Recurrent or Refractory B Cell Malignancies
This phase I trial studies the side effects of CD19/CD22 chimeric antigen receptor (CAR) T cells when given together with chemotherapy and NKTR-255, and to see how well they work in treating patients with CD19 positive B acute…
- Conditions
- B Acute Lymphoblastic Leukemia, CD19 Positive, Minimal Residual Disease, Philadelphia Chromosome Positive
- Trial name
- NCT03233854
- Testing
- Chimeric Antigen Receptor T-Cell Therapy, Cyclophosphamide, Fludarabine Phosphate
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- Stanford University
Congenital Diaphragmatic Hernia
Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly.
- Trial name
- NCT01098929
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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
Down Syndrome
Rebound Therapy on Ventilatory Functions in Down Syndrome
The purpose of this study is to examine the effects of rebound therapy on ventilatory functions in children with Down Syndrome.
- Trial name
- NCT07425353
- Testing
- Chest Physical Therapy Protocol, Rebound Therapy Protocol
- Volunteers
- 40 people
- Sponsor
- Beni-Suef University
Infertility (IVF Patients)
Study of Abnormally Fertilized Embryos
The goal of this observational study is to determine the diploidy rate of haploid and triploid embryos from in vitro fertilization (IVF) cycles.
- Trial name
- SAFE (NCT06940973)
- Testing
- Parental samples, PGT-A, TE rebiopsies and spent blastocyst media collection
- Where
- Spain
- Volunteers
- 300 people
- Sponsor
- Igenomix
Philadelphia Chromosome-positive Chronic Myeloid Leukemia in Chronic Phase
Effectiveness and Safety Study of Generic Imatinib in Chronic Myeloid Leukemia Patients in Egypt
The purpose of this observational study is to evaluate the effectiveness and safety of generic imatinib under usual clinical practice in patients of Philadelphia chromosome-positive (Ph+) chronic myeloid leukemia (CML) patients…
- Trial name
- NCT03454503
- Testing
- Imatinib
- Where
- Egypt
- Volunteers
- 173 people
- Sponsor
- Hikma Pharmaceuticals LLC
Chronic Myelogenous Leukemia
Study of Nilotinib as First Line Treatment in Philadelphia Chromosome Positive(Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP)
The study was a local multicentric, open-label, non-randomized phase II study of nilotinib as a first line treatment in adult patients with newly-diagnosed Philadelphia chromosome-positive (Ph+) and chronic phase myeloid leukemia…
- Trial name
- NCT01274351
- Testing
- Nilotinib
- Where
- 13 sites in Turkey (Türkiye)
- Volunteers
- 112 people
- Sponsor
- Novartis Pharmaceuticals
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
Fetal Growth Retardation
Non-invasive Placental Chromosome Exploration of Intrauterine Growth Restriction
The objective of this project is the non-invasive prenatal detection of placenta-limited aneuploidies, in patients whose fetuses have a intrauterine growth restriction below 3rd percentile, in parallel with an amniocentesis.
- Trial name
- DPNI-RCIU (NCT05023161)
- Testing
- Blood samples
- Where
- 3 sites in France
- Volunteers
- 300 people
- Sponsor
- University Hospital, Bordeaux
Trisomy 13, Trisomy 18
High Risk Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample.
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
- Trial name
- NCT02278874
- Where
- 4 sites in United States
- Volunteers
- 99 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Down Syndrome
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines.
- Trial name
- DSC2U (NCT04227197)
- Testing
- Down Syndrome Clinic to You (DSC2U)
- Where
- United States
- Volunteers
- 281 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Pregnancy
A Study Collecting Blood Samples From Pregnant Women to Aid in the Development of a Noninvasive Prenatal Test
The purpose of this study is to collect whole blood samples from women with viable pregnancies of at least 10 weeks gestation (at any risk for fetal chromosomal anomaly) for future testing with an investigational noninvasive…
- Trial name
- NCT03620110
- Where
- 8 sites in United States
- Volunteers
- 2,209 people
- Sponsor
- Illumina, Inc.
Prader-Willi Syndrome
Open-Label Extension Study of DCCR in Patients With Prader-Willi Syndrome
The purpose of this is study is to evaluate the long-term safety of DCCR (diazoxide choline) extended-release tablets) in patients with Prader-Willi syndrome.
- Trial name
- NCT05701774
- Testing
- DCCR
- Where
- 22 sites in United States, United Kingdom
- Volunteers
- 77 people
- Sponsor
- Soleno Therapeutics, Inc.
Klinefelter Syndrome
Fertility Preservation in Cases of Klinefelter Syndrome.
Klinefelter Syndrome (KS) is the most common sex chromosomal abnormalities (1/600 newborn males), and is characterized by a hypergonadism hypogonadism.
- Trial name
- FERTIPRESERVE (NCT01918280)
- Testing
- Seminal analyses and testicular biopsy
- Where
- 4 sites in France
- Volunteers
- 141 people
- Sponsor
- Hospices Civils de Lyon
Silver Russell Syndrome, Beckwith-Wiedemann Syndrome
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of…
- Conditions
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome
- Trial name
- IDMet (NCT05945576)
- Where
- 20 sites in France
- Volunteers
- 2,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
22q11.2 Deletion Syndrome
Neuroprotective Effects of Risperdal on Brain and Cognition in 22q11 Deletion Syndrome
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with a high risk of psychiatric disorders, including schizophrenia spectrum disorders.
- Trial name
- NCT04639960
- Testing
- Risperdal
- Where
- Switzerland
- Volunteers
- 16 people
- Sponsor
- University of Geneva, Switzerland
Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL)
Accuracy Testing of the Chromosomal Aberration and Gene Mutation Markers of the AMLProfiler
This clinical study will demonstrate the accuracy of the chromosomal aberration and gene mutation markers of the AMLProfiler molecular diagnostic assay and generate clinical performance data to support a Pre-Market Approval (PMA)…
- Conditions
- Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL), Refractory Anemia With Excess of Blasts (RAEB)
- Trial name
- NCT01463410
- Where
- 5 sites in United States, Germany and 2 more
- Volunteers
- 264 people
- Sponsor
- Skyline Diagnostics BV
Fragile X Syndrome
A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome
This is a 2-part study, with each part having a unique set of objectives for male adolescents aged 9 to < 18 years with fragile X syndrome (FXS).
- Trial name
- NCT05163808
- Testing
- zatolmilast
- Where
- 17 sites in United States
- Volunteers
- 163 people
- Sponsor
- Tetra Discovery Partners