Clinical trials: Gene Mutations
Parkinson Disease, GBA Gene Mutation
Evaluation of the Frequency and Severity of Sleep Abnormalities in Patients With Parkinson's Disease
Sleep disturbances are one of the most common non-motor symptoms in PD, with an estimated prevalence as high as 40-90%. Sleep disturbances (particularly sleep duration, sleep fragmentation, Rapid Eye Movement (REM) sleep behavior…
- Conditions
- Parkinson Disease, GBA Gene Mutation, Leucine-rich Repeat Kinase 2 (LRRK2) Gene Mutation
- Trial name
- NCT04387812
- Testing
- Xtrodes home PSG system
- Where
- Israel
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Gene Expression Profiles in CML Non-responders
Gene Expression Profiles in CML Non-responders
Chronic myeloid leukaemia (CML) is a haematological malignancy primarily driven by the fusion oncogene BCR-ABL1, resulting in a constitutively expressed tyrosine kinase.
- Trial name
- NCT04219111
- Testing
- Clariom
- Where
- United Kingdom
- Sponsor
- Sheffield Children's NHS Foundation Trust
Colorectal Cancer
Adjuvant Low Dose Aspirin in Colorectal Cancer
ALASCCA is a randomized, parallel group, double blind, multicenter, placebo-controlled, biomarker-based study of adjuvant treatment with low dose aspirin in patients with colorectal cancer.
- Trial name
- ALASCCA (NCT02647099)
- Testing
- Acetylsalicylic acid
- Where
- 32 sites in Denmark, Finland and 2 more
- Volunteers
- 626 people
- Sponsor
- Anna Martling
Carcinoma, Non-Small-Cell Lung
Response of Bony Metastasis to Tyrosine Kinase Inhibitors in Non-Small Cell Lung Cancers With Actionable Driver Mutations.
The purpose of this study is to assess percentage reduction in the of urine NTX and serum CTX , in patients with NSCLC and bone metastases 1) with actionable driver oncogene on standard of care (SOC) TKI at 3 months post…
- Trial name
- NCT03958565
- Testing
- Tyrosine Kinase Inhibitor, Zoledronic Acid 4 MG/100 ML Intravenous Solution [ZOMETA], Denosumab 120 MG/1.7 ML Subcutaneous Solution [XGEVA]
- Where
- 2 sites in United States
- Volunteers
- 100 people
- Sponsor
- University of Colorado, Denver
BRCA1 Mutation, BRCA2 Mutation
Olaparib and ASTX727 in BRCA1/2- and Homologous Recombination Deficient (HRD)-Mutated Tumors
This is a single center, phase I/Ib clinical trial evaluating the combination of the poly adenosine diphosphate-ribose polymerase (PARP) inhibitor olaparib with the DNA methyltransferase (DNMT) inhibitor ASTX727, which is an oral…
- Conditions
- BRCA1 Mutation, BRCA2 Mutation, BRCA Mutation, PALB2 Gene Mutation
- Trial name
- NCT06177171
- Testing
- Olaparib, ASTX727
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Varun Monga, MBBS
Dilated Cardiomyopathy
Observational Study of Natural History of BAG3 Gene Mutation-Associated Dilated Cardiomyopathy in Chinese Adults
This is a multicentre, prospective cohort study designed to elucidate the natural history of dilated cardiomyopathy (DCM) associated with specific gene mutations in Chinese patients.
- Trial name
- NCT07646600
- Testing
- Observational, None intervention
- Where
- 3 sites in China
- Volunteers
- 10 people
- Sponsor
- AstraZeneca
Metabolic Syndrome, Insulin Resistance
Effect of Blueberry Consumption on Metabolic Syndrome & DNA Damage
Obesity usually brings with it disturbances in the body that increase the chances of developing serious diseases like diabetes and cancer.
- Conditions
- Metabolic Syndrome, Insulin Resistance, DNA Damage
- Trial name
- NCT02075307
- Testing
- Blueberry Powder
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Ovarian Neoplasms
Characterizing the Cross-sectional Approach to Investigate the Prevalence of Tissue BRCA1/2 Mutations in Newly Diagnosed Advanced Ovarian Cancer Patients
This is a multi-center, observational study in Japan. Patients with newly diagnosed FIGO stage III - IV advanced OC will be enrolled sequentially.
- Trial name
- CHRISTELLE (NCT04222465)
- Where
- 20 sites in Japan
- Volunteers
- 207 people
- Sponsor
- AstraZeneca
Carcinoma, Non-Small-Cell Lung
Real World Data on Gi(l)Otrif® Dose Adjustment
This is a non-interventional, multi-country, multi-site study based on existing data from medical records of patients treated with Gi(l)otrif® as part of the routine treatment according to the approved label.
- Trial name
- NCT02751879
- Where
- 29 sites in United States, Austria and 11 more
- Volunteers
- 228 people
- Sponsor
- Boehringer Ingelheim
Gliomas Harboring IDH1 and/or IDH2 Mutations, Glioma Glioblastoma Multiforme
Multicenter Prospective Study on MRI AI Model for Midline Glioma Subtyping and Prognosis:
A vision-language model using preoperative MRI and clinical variables has been developed to simultaneously predict three key molecular markers in midline gliomas: H3K27M, IDH, and 1p/19q.
- Conditions
- Gliomas Harboring IDH1 and/or IDH2 Mutations, Glioma Glioblastoma Multiforme, Glioma of Brainstem, Glioma, Diffuse Midline, H3K27M-mutant
- Trial name
- NCT07608003
- Where
- China
- Volunteers
- 500 people
- Sponsor
- Xiangya Hospital of Central South University
NSCLC, EGFR Activating Mutation
TY-9591 in the Patients With EGFR Mutations in Advanced NSCLC With Brain Metastases
This study is to evaluate the efficacy and safety of TY-9591 in first-line treatment of patients with EGFR-sensitive mutation-positive non-small cell lung cancer with brain metastases compared to Osimertinib.
- Conditions
- NSCLC, EGFR Activating Mutation, Brain Metastases
- Trial name
- NCT05948813
- Testing
- TY-9591, Osimertinib
- Where
- China
- Volunteers
- 420 people
- Sponsor
- TYK Medicines, Inc
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing AZD5363 as a Potential Targeted Treatment in Cancers With AKT Genetic Changes (MATCH-Subprotocol Y)
This phase II MATCH treatment trial identifies the effects of AZD5363 in patients whose cancer has a genetic change called AKT mutation. AZD5363 may block AKT, which is a protein needed for cancer cell growth.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphoid Cell Neoplasm, Refractory Lymphoma
- Trial name
- NCT04439123
- Testing
- Capivasertib
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Cancer Institute (NCI)
GIST
(VOYAGER) Study of Avapritinib vs Regorafenib in Patients With Locally Advanced Unresectable or Metastatic GIST
This is an open-label, randomized, Phase 3 study in patients with locally advanced unresectable or metastatic GIST (advanced GIST) of avapritinib (also known as BLU-285) versus regorafenib in patients previously treated with…
- Trial name
- NCT03465722
- Testing
- avapritinib, regorafenib
- Where
- 114 sites in United States, Australia and 16 more
- Volunteers
- 476 people
- Sponsor
- Blueprint Medicines Corporation
Breast Cancer, BRCA1 Mutation
IMpact of Breast cAncer Gene Status on Survival in Adjuvant Breast Cancer (IMBASSA)
Relationship between the presence of the BRCA mutation (BReast Cancer) and outcomes is unclear in high-risk early breast cancers (BC).
- Conditions
- Breast Cancer, BRCA1 Mutation, BRCA2 Mutation
- Trial name
- IMBASSA (NCT04012229)
- Testing
- BRCA mutation
- Where
- France
- Volunteers
- 2,295 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Besancon
Non Small Cell Lung Cancer
Radiomics and Radiogenomics of Non-small Cell Lung Cancer
In this study, the radiomic characteristics and a broad range of genetic aberrations in lung adenocarcinomas will be evaluated. Investigators will assess changes in the radiomic and genetic profiles during targeted therapies in a…
- Trial name
- NCT06331975
- Testing
- Radiomic signature
- Where
- Italy
- Volunteers
- 91 people
- Sponsor
- European Institute of Oncology
Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation
Diabetes Prevention Program With or Without Hunger Training in Helping to Lower Breast Cancer Risk in Obese Participants
This pilot trial studies how well a diabetes prevention program with or without hunger training works in helping to lower breast cancer risk in obese participants.
- Conditions
- Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Ductal Breast Carcinoma In Situ, Obesity
- Trial name
- NCT03546972
- Testing
- Behavioral, Psychological or Informational Intervention, Questionnaire Administration
- Where
- United States
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Colorectal Cancer, APC Gene Mutation
Patogenic Mutation in 5 Genes
This is a pathogenic mutation profile of colorectal patients specifically in 5 genes, i.e. APC, TP53, PIK3CA, KRAS, and MLH1. Single nucleotide variants identified were synchronized with patients' characteristics.
- Conditions
- Colorectal Cancer, APC Gene Mutation, TP53 Gene Mutation, PIK3CA Gene Mutation
- Trial name
- NCT04976439
- Testing
- co-occuring mutation
- Where
- Indonesia
- Volunteers
- 22 people
- Sponsor
- Dr Cipto Mangunkusumo General Hospital
Non Small Cell Lung Cancer
Safety and Effectiveness Study of Chemotherapy in Combination With Erlotinib,or Sequential Erlotinib for Treatment in Patients With NSCLC
The purpose of this study is to evaluate and compare safety and effectiveness of Chemotherapy in Combination With Erlotinib,or Sequential Erlotinib for Treatment in Patients With EGFR - TKI Resistance of EGFR Mutations
- Trial name
- NCT02037997
- Testing
- docetaxel, pemetrexed, Erlotinib
- Where
- China
- Volunteers
- 80 people
- Sponsor
- Fudan University
Solid Tumor
Phase 1/2 Study of Derazantinib (ARQ 087) in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations
This was an open-label, Phase 1/2, dose escalation and signal finding study of derazantinib administered to patients with advanced solid tumors (Part 1; Dose Escalation/Food-effect Cohorts) or with advanced solid tumors with FGFR…
- Trial name
- NCT01752920
- Testing
- Derazantinib low dose range, Derazantinib middle dose range, Derazantinib high dose range
- Where
- 12 sites in United States, Italy
- Volunteers
- 119 people
- Sponsor
- Basilea Pharmaceutica
Non-Small Cell Lung Cancer
Efficacy and Resistance Mechanisms of IP in NSCLC With Leptomeningeal Metastases
This is a prospective interventional study clinical study to investigate the efficacy and resistance mechanisms of intrathecal pemetrexed in patients with driver gene mutations advanced NSCLC with leptomeningeal metastases.
- Trial name
- EPIC (NCT06440954)
- Testing
- Intrathecal pemetrexed
- Where
- China
- Volunteers
- 220 people
- Sponsor
- Hunan Province Tumor Hospital
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