Clinical trials: Chromosome Disorders
- Condition Chromosome Disorders
- Funder type Industry (pharma, biotech, devices)
- Accepts healthy volunteers yes
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Infectious Disease, Neoplasms
AnovaOS Network Powered Patient Registry
The objective of this study is the development, implementation and management of a registry of patient data that captures clinically meaningful, real-world, data on the diagnosis, nature, course of infection, treatment(s) and…
- Conditions
- Infectious Disease, Neoplasms, Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism (D50-D89), Endocrine, Nutritional and Metabolic Diseases (E00-E89)
- Trial name
- NCT05013944
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Anova Enterprises, Inc
Post-natal Cytogenetics
Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality Test
The study will determine the performance of the Infinium HD Test. The primary objective of the study is to assess the performance of the Infinium HD Test using banked DNA samples extracted from whole blood patient samples derived…
- Trial name
- NCT01426308
- Where
- 3 sites in United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.
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
Aneuploidy
National Prevalence and Impact of Noninvasive Prenatal Testing
Information on pregnant women undergoing non-invasive prenatal testing (NIPT) at one of the Obstetrix Medical Groups Outpatient Centers between January 2012 and June 2014 will be retrospectively gathered and an analysis of the…
- Trial name
- NCT02284399
- Testing
- non-invasive prenatal testing
- Where
- 7 sites in United States
- Volunteers
- 4,488 people, healthy volunteers welcome
- Sponsor
- Obstetrix Medical Group
Fragile X Syndrome
A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107
The objectives of this study are to determine the safety and tolerability of single oral doses of STX107 and to determine basic pharmacokinetic (PK) parameters following single oral doses of STX107 when administered via an oral…
- Trial name
- NCT00965432
- Testing
- STX107
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Seaside Therapeutics, Inc.
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.
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.
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.
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
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Down Syndrome, Edwards Syndrome
Whole Blood Specimen Collection From Pregnant Subjects
To obtain whole blood specimens from pregnant subjects to be used for research and development and clinical validation studies of prenatal assays.
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02430584
- Testing
- Observational - no intervention
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Progenity, Inc.
Aneuploidy, Trisomy 21
Prenatal Test for Fetal Aneuploidy Detection
The purpose of this study is to develop and evaluate a blood test for pregnant women for detection of fetal aneuploidy.
- Trial name
- NCT01256606
- Where
- 6 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Roche Sequencing Solutions
22q.11.2 Deletion/Duplication
Non-Invasive Chromosomal Evaluation of 22q11.2
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
- Trial name
- 22Q (NCT02541058)
- Where
- Belgium
- Volunteers
- 420 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18)
Non-Invasive Determination of Fetal Chromosome Abnormalities
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome…
- Conditions
- Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY)
- Trial name
- NCT00891852
- Where
- 7 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Lenetix Medical Screening Laboratory
Philadelphia Chromosome Positive (Ph+) Chronic Myeloid Leukemia (CML)
Bioequivalence And Food Effect Study Of Bosutinib In Healthy Subjects
The purpose of this study is to demonstrate the bioequivalence of the clinical tablet formulation (100 mg x 5) to the clinical capsule formulation (100 mg x 5) in healthy subjects under fed condition (Cohort 1) and to investigate…
- Trial name
- NCT01374139
- Testing
- Bosutinib
- Where
- Singapore
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Pfizer
Healthy
Effect of Food on Bioavailability of a Modified Release Formulation of Imatinib
This is a single center, four-treatment, four period, crossover study to evaluate the effect of food on the relative bioavailability of a single dose of imatinib (STI571) given as a 800 mg modified release tablet, MR2 compared to…
- Trial name
- NCT00422825
- Testing
- imatinib
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Novartis Pharmaceuticals
Trisomy 21, Trisomy 18
Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a…
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
- Trial name
- MAPS (NCT01852708)
- Where
- 9 sites in United States, Spain and 1 more
- Volunteers
- 1,059 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.