Clinical trials: Cytogenetic Abnormality
Angelman Syndrome
BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.
Purpose of the study is to evaluate the efficacy and safety of intrathecally administered rugonersen in pediatric and adult participants with Angelman syndrome.
- Trial name
- NCT07605429
- Testing
- rugonersen
- Where
- 6 sites in United States, Taiwan
- Volunteers
- 165 people
- Sponsor
- OHB Pediatrics Ltd.
Leukemia, Myelogenous, Chronic, Breakpoint Cluster Region-Abelson Proto-oncogene (BCR-ABL) Positive
A Multicenter Phase 3, Open-Label Study of Bosutinib Versus Imatinib in Adult Patients With Newly Diagnosed Chronic Phase Chronic Myelogenous Leukemia
Phase 3, 2-arm, randomized, open label trial. Patients will be randomized to receive bosutinib or imatinib for the duration of the study.
- Trial name
- NCT02130557
- Testing
- Bosutinib, Imatinib
- Where
- 189 sites in United States, Australia and 24 more
- Volunteers
- 536 people
- Sponsor
- Pfizer
Infertility, Mosaicism
Non-Euploid Embryo Transfer (NEET) Registry
The NEET Registry is a registry to track and study the outcomes of non-euploid embryo transfers (NEET) in The Prelude Network
- Conditions
- Infertility, Mosaicism, Aneuploidy
- Trial name
- NCT07036536
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Inception Fertility Research Institute, LLC
Pregnancy, Down Syndrome
Comparison of Aneuploidy Risk Evaluations
This is a prospective, multi-center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in…
- Conditions
- Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome
- Trial name
- CARE (NCT01663350)
- Where
- 26 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Verinata Health, Inc.
Aneuploidy, Chromosome Abnormality
Multi-center Study to Validate niPGT-A
Abnormal chromosome number, or aneuploidy, is common in human embryos. It is responsible for more than half of all miscarriages, and it is the leading cause of congenital birth defects.
- Conditions
- Aneuploidy, Chromosome Abnormality, Infertility
- Trial name
- niPGT-A (NCT03520933)
- Testing
- PGT-A, niPGT-A
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 2,586 people
- Sponsor
- Igenomix
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.
Chronic Myeloid Leukemia (CML)
Effect of Imatinib Mesylate and the Pharmacokinetics of Acetaminophen/Paracetamol in Patients With Newly Diagnosed, Previously Untreated Chronic Myeloid Leukemia in Chronic Phase (CML-CP)
A non-randomized, open-label study to investigate the effects of imatinib mesylate on the pharmacokinetics of acetaminophen/paracetamol in patients with newly diagnosed, previously untreated chronic myeloid leukemia in chronic…
- Trial name
- NCT00428909
- Testing
- Imatinib/Acetaminophen
- Where
- South Korea
- Volunteers
- 12 people
- Sponsor
- Novartis Pharmaceuticals
DiGeorge Syndrome, DiGeorge Anomaly
Thymus Transplantation With Immunosuppression
The research purpose is to determine if thymus transplantation with immunosuppression is a safe and effective treatment for complete DiGeorge anomaly.
- Conditions
- DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- 884 (NCT00579709)
- Testing
- Thymus Tissue for Transplantation
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Fragile-X Syndrome
EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to evaluate characteristics, management and patient and caregiver-related outcomes the quality of life of Families and patients with FXS and…
- Trial name
- EXPLAIN (NCT01711606)
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- Novartis Pharmaceuticals
Autism Spectrum Disorder
An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder
The investigators hypothesize that EPI-743 may provide clinical benefit to children with Autism Spectrum Disorder.
- Trial name
- Autism (NCT02226458)
- Testing
- EPI-743
- Sponsor
- Edison Pharmaceuticals Inc
Philadelphia Chromosome Positive CML
An Extension Study of the Safety and Anti-leukemic Effects of Imatinib Mesylate in Participants With Philadelphia Chromosome-positive Chronic Myeloid Leukemia in Blast Crisis
This extension II study allowed for further follow-up of the disease under treatment with imatinib mesylate and allow the participants to continue to receive imatinib mesylate.
- Trial name
- NCT00171158
- Testing
- imatinib mesylate
- Where
- 10 sites in United States, France and 2 more
- Volunteers
- 260 people
- Sponsor
- Novartis Pharmaceuticals
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
Early Pregnancy Loss
Cell-free DNA Analysis of Chromosome Anomalies in Early Pregnancy Loss
The study assesses the accuracy of cell-free DNA (cfDNA) analysis in detecting whole chromosomal aneuploidies from maternal plasma of patients with early, missed miscarriage.
- Trial name
- NCT04935138
- Testing
- cfDNA analysis
- Where
- United States
- Volunteers
- 78 people
- Sponsor
- Quest Diagnostics-Nichols Insitute
Prader-Willi Syndrome
A Study of Pitolisant in Patients With Prader-Willi Syndrome
This is a Phase 3, randomized, double-blind, placebo-controlled, multicenter, global clinical study to assess the efficacy and safety of pitolisant in patients living with Prader-Willi syndrome.
- Trial name
- NCT06366464
- Testing
- Pitolisant tablet
- Where
- 57 sites in United States, Australia and 11 more
- Volunteers
- 134 people
- Sponsor
- Harmony Biosciences Management, Inc.
Prader-Willi Syndrome
Cannabidiol Oral Solution for the Treatment of Patients With Prader-Willi Syndrome
The primary objective of this study is to assess the efficacy of cannabidiol oral solution on hyperphagia-related behavior in patients with Prader-Willi Syndrome (PWS).
- Trial name
- NCT02844933
- Testing
- Cannabidiol
- Where
- 7 sites in United States
- Volunteers
- 7 people
- Sponsor
- Radius Pharmaceuticals, Inc.
Fragile X Syndrome
Open Label Study Investigating Safety and Efficacy of NPL2009 50 mg - 150 mg on Prepulse Inhibition Tests and Continuous Performance Tasks, Adults With Fragile X Syndrome
This is an open label exploratory study to investigate the safety and effects of a single dose of NPL-2009(50 mg - 150 mg) on Prepulse Inhibition (PPI) Tests and Continuous Performance Tasks (CPT) in adults with Fragile X Syndrome
- Trial name
- NCT00637221
- Testing
- NPL-2009
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Neuropharm
22q11.2 Deletion Syndrome
Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions
This is a 5-week, multi-center, open-label, dose optimization trial in subjects aged 12-17 years with 22q11DS who have a diagnosis of anxiety disorder, and/or ADHD, and/or ASD.
- Trial name
- NCT02895906
- Testing
- NFC-1
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome
To explore the efficacy, safety and tolerability of STX209 (arbaclofen) administered for the treatment of social withdrawal in adolescents and adults with fragile X syndrome (FXS)
- Trial name
- Harbor-A (NCT01282268)
- Testing
- arbaclofen
- Where
- 24 sites in United States
- Volunteers
- 125 people
- Sponsor
- Seaside Therapeutics, Inc.
Copy Number Variations
Development of a NIPTT for Detecting Copy Number Variations
To collect whole blood samples from pregnant women for the purpose of developing, optimizing and evaluating laboratory-developed noninvasive prenatal test (NIPT) for the detection of fetal chromosomal abnormalities of interest…
- Trial name
- NCT04774640
- Testing
- MaterniT GENOME
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Sequenom, Inc.
Chronic Myeloid Leukemia, Philadelphia Chromosome
Study of Chinese Newly Diagnosed Participants With Philadelphia Chromosome-Positive (Ph+) Chronic Myeloid Leukemia in Chronic Phase (CML-CP)
Observational medical record review of newly diagnosed CML-CP participants in China
- Conditions
- Chronic Myeloid Leukemia, Philadelphia Chromosome, Chronic Myeloid Leukemia in Chronic Phase
- Trial name
- NCT03509896
- Testing
- Non-Interventional
- Where
- China
- Volunteers
- 463 people
- Sponsor
- Bristol-Myers Squibb