Clinical trials: Mutation
Epilepsy
Impact of Thermocoagulation During Invasive EEG Monitoring in Children With Focal Drug-resistant Epilepsies
When focal epilepsies become drug-resistant, it could be eligible for cortical surgical resection. Therefore, an invasive EEG monitoring with depth electrodes is often needed during presurgical evaluation.
- Trial name
- COAG (NCT02886650)
- Testing
- Thermocoagulation
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Malignant Peripheral Nerve Sheath Tumors (MPNST)
A Study of ASTX727 in People With Malignant Peripheral Nerve Sheath Tumors (MPNST)
The purpose of this study is to see whether the study drug ASTX727 is an effective treatment for people who have MPNST with a PCR2 mutation.
- Trial name
- NCT04872543
- Testing
- ASTX727
- Where
- 7 sites in United States
- Volunteers
- 25 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Bladder Cancer
Cost-Effectiveness in Bladder Cancer
This randomized clinical multicentre trial aims to evaluate the efficacy of microsatellite analysis on voided urine to detect tumour recurrences in the follow-up of patients with superficial urothelialcell carcinoma (UCC).
- Trial name
- NCT00126958
- Testing
- urinary analysis
- Volunteers
- 500 people
- Sponsor
- Erasmus Medical Center
Retinitis Pigmentosa 11, Retinal Degeneration
MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
A Phase 1 Open-Label, Multiple Ascending Dose Study to Evaluate the Safety and Tolerability of Intravitreally Administered VP-001 in Participants with Confirmed PRPF31 Mutation-Associated Retinal Dystrophy
- Conditions
- Retinitis Pigmentosa 11, Retinal Degeneration, Eye Diseases, Retinal Disease
- Trial name
- NCT06455826
- Testing
- VP-001
- Where
- 5 sites in United States
- Volunteers
- 6 people
- Sponsor
- PYC Therapeutics
Crohn's Disease, Ulcerative Colitis (UC)
A Blood and Tissue Sample Collection Study of Patients Who Have Inflammatory Bowel Disease, Who Have Been Treated With Adalimumab and Who Developed Hepatosplenic T-Cell Lymphoma
To collect and store blood and biopsy samples obtained from CD or UC patients exposed to adalimumab and diagnosed with Hepatosplenic T-cell Lymphoma (HSTCL), for the purpose of identifying potential biomarkers and genetic…
- Conditions
- Crohn's Disease, Ulcerative Colitis (UC), Hepatosplenic T-Cell Lymphoma
- Trial name
- HSTCL (NCT02087878)
- Where
- Italy
- Sponsor
- AbbVie
Advanced Cancer
Study of Erlotinib in Combination With Bortezomib
The goal of this clinical research study is to find the highest tolerable dose of Tarceva (erlotinib hydrochloride) that can safely be given in combination with Velcade (bortezomib).
- Trial name
- NCT00895687
- Testing
- Erlotinib Hydrochloride, Bortezomib
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- M.D. Anderson Cancer Center
AML
Efficacy and Safety of ATO Plus ATRA in Nucleophosmin-1 Mutated Acute Myeloid Leukemia
In this open-label, randomized, prospective clinical trial, nucleophosmin-1(NPM1) mutated acute myeloid leukemia (AML) patients who have reached CR are randomized into two groups.The control group receive high-dose…
- Trial name
- NCT03031249
- Testing
- Cytarabine, all-trans retinoic acid, Arsenic Trioxide
- Where
- China
- Volunteers
- 80 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Relapsed Solid Tumors, Refractory Solid Tumors
A Study of KB-0742 in Participants With Relapsed or Refractory Solid Tumors Including Platinum Resistant High Grade Serous Ovarian Cancer (HGSOC)
Part 1: Dose Escalation. The primary objective of Part 1 of this study is to evaluate the safety and tolerability of KB-0742 in participants with relapsed or refractory (R/R) solid tumors or non-Hodgkin lymphoma (NHL).
- Conditions
- Relapsed Solid Tumors, Refractory Solid Tumors, Non-Hodgkin Lymphoma, HGSOC
- Trial name
- NCT04718675
- Testing
- KB-0742
- Where
- 24 sites in United States, Spain and 1 more
- Volunteers
- 135 people
- Sponsor
- Kronos Bio
Myopia
Myopia:the Role of Cone Opsin Mutations & Glasses That Control Axial Elongation
1. To determine the effect of spectacles with a red blocking filter on myopia progression in children. 2. To determine the effect of spectacles with a holographic diffuser that spreads incident light rays over an angle of 0.5…
- Trial name
- NCT01923675
- Testing
- Spectacles with red-blocking tint, Spectacles with holographic diffuser and color neutral tint, Spectacles with holographic diffuser and red-blocking tint
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Washington
Non-Small Cell Lung Cancer
An epidemiOlogy Study to deteRmine the Prevalence of EGFR (Epidermal Growth Factor Receptor) muTations in RUSsian Patients With Advanced NSCLC (Non-Small Cell Lung Cancer).
This is a multicentre, non-interventional, prospective study to be carried out in representative oncology departments / institutions in order to determine the prevalence of EGFR mutations in treatment-naive Russian patients with…
- Trial name
- ORTUS (NCT02321046)
- Where
- 26 sites in Russia
- Volunteers
- 26 people
- Sponsor
- AstraZeneca
Leukemia
Pre-existing Kinase Domain Mutations in Ph-positive Leukemias
The main task of this study includes analyses of the BCR-ABL1 (breakpoint cluster region/Abelson) gene and mutations in the BCR-ABL1 tyrosine kinase domain within flow-sorted stem cells from the bone marrow and/or peripheral…
- Trial name
- NCT02643888
- Where
- Austria
- Volunteers
- 30 people
- Sponsor
- St. Anna Kinderkrebsforschung
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
Stroke, Brain Ischemia
The Association of Omentin and Ischemic Stroke
This observational study aims to research whether there is a relationship between omentin and ischemic stroke on the aspects of incidence, severity, and recovery etc.
- Conditions
- Stroke, Brain Ischemia, Adipokines, Mutation
- Trial name
- NCT03125759
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Xi'an No.3 Hospital
Sensorineural Hearing Loss, Enlarged Vestibular Aqueduct
Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA
To explore the genotype-phenotype correlation of SLC26A4 mutations in cochlear-implanted patients with enlarged vestibular aqueduct.
- Trial name
- NCT04934605
- Testing
- Cochlear implantation
- Volunteers
- 60 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Cystic Fibrosis
ICM to Evaluate the Activation of p.Phe508del-CFTR by Lumacaftor in Combination With Ivacaftor
The academic investigator - initiated trial will evaluate in a postapproval setting whether, and if yes, to what extent and variability, the treatment with lumacaftor in combination with ivacaftor reverses the p.Phe508del CFTR …
- Trial name
- OrkambiFacts (NCT02807415)
- Testing
- Lumacaftor plus Ivacaftor
- Where
- 3 sites in Germany
- Volunteers
- 104 people
- Sponsor
- Hannover Medical School
LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)
Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy
The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems.
- Trial name
- NCT06503367
- Where
- 14 sites in United States
- Volunteers
- 44 people
- Sponsor
- Nationwide Children's Hospital
Detection and Genotyping of Factor V and Factor II Point Mutations
Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNA
As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites.
- Trial name
- NCT00959504
- Volunteers
- 275 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
Thoracic Neoplasms
Phase III Trial to Evaluate the Elortinib vs Gefitinib in Advanced NSCLC With EGFR Exon 19 or 21 Mutations
This is a randomized controlled trial to compare efficacy and safety between erlotinib and gefitinib in advanced NSCLC harboring EGFR exon 19 or 21 mutations.Eligible patients were randomized to receive erlotinib or gefitinib in…
- Trial name
- NCT01024413
- Testing
- erlotinib, gefitinib
- Where
- China
- Volunteers
- 256 people
- Sponsor
- Chinese Society of Lung Cancer
Genetic Screening, Adolescent
Engaging Adolescents in Decisions About Return of Genomic Research Results
Recent recommendations to return children's results for adult-onset conditions to parents anytime whole exome or genome sequencing is performed, as well as growing expectations to return research results to participants on a…
- Conditions
- Genetic Screening, Adolescent, Genetic Change, Shared Decision Making
- Trial name
- NCT04481061
- Testing
- Electronic Decision Tool
- Where
- 2 sites in United States
- Volunteers
- 787 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati