Clinical trials: Chromosome Disorders
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
Chronic Myeloid Leukemia (CML), Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (Ph+ ALL)
A Study of Ponatinib in Japanese Participants With Chronic Myeloid Leukemia (CML) and Ph+ Acute Lymphoblastic Leukemia (ALL)
The purpose of this study is to assess the safety and efficacy of ponatinib in Japanese patients with chronic myeloid leukemia (CML) who have experienced failure of dasatinib or nilotinib or with Ph+ acute lymphoblastic leukemia…
- Trial name
- NCT01667133
- Testing
- ponatinib - Phase 1, ponatinib - Phase 2
- Where
- 11 sites in Japan
- Volunteers
- 35 people
- Sponsor
- Ariad 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
Leukemia
A Study of Imatinib and Nilotinib in Patients With Chronic Myelogenous Leukemia in Chronic Phase
The extension study followed the core study CAMN107ECN02 (NCT01275196). which is an open-label, two armed study. All patients enrolled in this extension study were able to benefit from the treatment given in CAMN107ECN02 per…
- Trial name
- NCT02272777
- Testing
- Imatinib, Nilotinib
- Where
- 12 sites in China
- Volunteers
- 225 people
- Sponsor
- Novartis Pharmaceuticals
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.
Chronic Myeloid Leukemia, Chronic Phase, CML, Chronic Phase
A Phase 3 Study for the Efficacy and Safety of Radotinib in CP-CML Patients With Failure or Intolerance to Previous TKIs
In a multinational, multicenter, single-arm, open-label and Phase III Radotinib clinical study, chronic phase Ph+ chronic myeloid leukemia patients with failure or intolerance to previous TKIs therapy including Imatinib will be…
- Conditions
- Chronic Myeloid Leukemia, Chronic Phase, CML, Chronic Phase, CML, Refractory, CML - Philadelphia Chromosome
- Trial name
- NCT03459534
- Testing
- Radotinib HCl
- Where
- 18 sites in Russia, South Korea and 2 more
- Volunteers
- 173 people
- Sponsor
- Il-Yang Pharm. Co., Ltd.
Chronic Myelogenous Leukemia
Study Comparing Standard Dose and High-dose Imatinib Mesylate in Patients With Chronic Phase Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia (CML)
The study will assess the role of high-dose imatinib mesylate, in patients who have taken imatinib mesylate for at least 1 year at the standard dose, in achieving a major molecular response (a measure of the level of chronic…
- Trial name
- NCT00171899
- Testing
- imatinib mesylate
- Where
- Canada
- Volunteers
- 80 people
- Sponsor
- Novartis Pharmaceuticals
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.
CML, Philadelphia Chromosome Positive (Ph+)
Study of Nilotinib in Ph+ CML-CP Patients With Low Imatinib Trough Plasma Concentrations
This study is to determine the number of European Leukemia Network (ELN)guideline defined treatment failure events from time of study entry in CML-CP patients with low imatinib trough concentrations treated with nilotinib.
- Conditions
- CML, Philadelphia Chromosome Positive (Ph+), Chronic Myelogenous Leukemia Chronic Phase(CML-CP) Patients With Low Imatinib Trough Levels
- Trial name
- MACS1148 (NCT01131325)
- Testing
- nilotinib
- Where
- 3 sites in United States
- Volunteers
- 3 people
- Sponsor
- Novartis Pharmaceuticals
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.
CLL / SLL, CLL (Chronic Lymphocytic Leukemia)
ROCKET-CLL Global Phase 3 Study: Rocbrutinib vs Pirtobrutinib in cBTKi-Pretreated R/R CLL/SLL
This is a Phase 3, randomized, open-label, multicenter study comparing rocbrutinib (LP-168) versus pirtobrutinib in adult participants with relapsed or refractory chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma…
- Conditions
- CLL / SLL, CLL (Chronic Lymphocytic Leukemia), CLL, Refractory, CLL, Relapsed
- Trial name
- NCT07342478
- Testing
- Rocbrutinib, Pirtobrutinib
- Where
- 6 sites in United States
- Volunteers
- 306 people
- Sponsor
- Newave Pharmaceutical 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
Sleep Disorders
Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities
The purpose of this study is to establish the efficacy and safety of Circadin in children with neurodevelopmental disorders and to determine the dose, this randomized, placebo-controlled study is planned to evaluate the efficacy…
- Trial name
- NCT01906866
- Testing
- Circadin 2/5/10 mg
- Where
- 28 sites in United States, Finland and 3 more
- Volunteers
- 125 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Chronic Lymphocytic Leukemia (CLL), Small Lymphocytic Lymphoma (SLL)
A Study of Venetoclax in Participants With Relapsed or Refractory Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
This is a Phase 2, open-label, multicenter study, evaluating the efficacy of venetoclax in participants with relapsed or refractory Chronic Lymphocytic Leukemia (CLL)/Small Lymphocytic Lymphoma (SLL) either in presence of 17p…
- Trial name
- NCT02966756
- Testing
- Venetoclax
- Where
- 31 sites in Australia, China and 2 more
- Volunteers
- 66 people
- Sponsor
- AbbVie