Clinical trials: Genetic Mutation
Non Small Cell Lung Cancer, Pancreatic Cancer
Study of Covalent Menin Inhibitor BMF-219 in Adult Patients With KRAS Driven Non-Small Cell Lung Cancer, Pancreatic Cancer, and Colorectal Cancer
A Phase 1/1b dose finding study to determine the OBD(s) and RP2D(s) of BMF-219, a covalent menin inhibitor small molecule, in subjects with KRAS mutated unresectable, locally advanced, or metastatic NSCLC (Cohort 1), PDAC (Cohort…
- Conditions
- Non Small Cell Lung Cancer, Pancreatic Cancer, Colorectal Cancer, NSCLC
- Trial name
- NCT05631574
- Testing
- BMF-219
- Where
- 23 sites in United States, South Korea
- Volunteers
- 13 people
- Sponsor
- Biomea Fusion Inc.
Colorectal Cancer
Metastatic Colorectal Cancer Treated With Regorafenib and FOLFIRI
The survey is a retrospective study to evaluate the prognotic value of EGFR expression, KRAS mutations and tumor sideness in patients with metastatic colorectal cancer treated with regorafenib and FOLFIRI as a third- or…
- Trial name
- NCT03698253
- Testing
- Regorafenib, UGT1A1 genotyping (TA6/TA6), UGT1A1 genotyping (TA6/TA7)
- Where
- Taiwan
- Volunteers
- 41 people
- Sponsor
- Kaohsiung Medical University Chung-Ho Memorial Hospital
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Pembrolizumab in Treating Participants With Metastatic, Recurrent or Locally Advanced Cancer and Genomic Instability
This phase II trial studies how well pembrolizumab works in treating participants with cancer that has spread to other places in the body, has come back or has spread to nearby tissues or lymph nodes.
- Conditions
- BRCA1 Gene Mutation, BRCA2 Gene Mutation, Locally Advanced Solid Neoplasm, Metastatic Malignant Solid Neoplasm
- Trial name
- NCT03428802
- Testing
- Laboratory Biomarker Analysis, Pembrolizumab
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Rutgers, The State University of New Jersey
Cancer, Cancer Metastatic
Real Word European Registry of NTRK Fusions and Other Rare Actionable Fusions (TRacKING)
This registry will make it possible to describe real life management of patients with rare actionable fusions and to better understand these cancers.
- Conditions
- Cancer, Cancer Metastatic, NTRK Gene Fusion Overexpression, NTRK Family Gene Mutation
- Trial name
- TRacKING (NCT04921553)
- Testing
- Data collection and quality of life questionnaire
- Where
- 41 sites in Austria, Czechia and 9 more
- Volunteers
- 500 people
- Sponsor
- Centre Leon Berard
Colo-rectal Cancer, Polygenic Risk Score
Development of Polygenic Risk Scores in Colon Cancer Patients Through the Study of Ancestry and Diversity in Genetic Maps of the Brazilian Population - ORIGEM Project
Development of a polygenic risk score based on somatic and germline genetic information from patients with colorectal cancer
- Conditions
- Colo-rectal Cancer, Polygenic Risk Score, Somatic Mutation, Hereditary Cancer
- Trial name
- ORIGEM (NCT06917794)
- Where
- 9 sites in Brazil
- Volunteers
- 500 people
- Sponsor
- D'Or Institute for Research and Education
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT03179631
- Testing
- Ataluren
- Where
- 64 sites in United States, Australia and 16 more
- Volunteers
- 360 people
- Sponsor
- PTC Therapeutics
HIV Infection
Evaluation of Genetic Markers as Explanations for the Observed Differences in Disease Progression in HIV+ Youth
This protocol is a study of HIV+ young people who were identified as having certain HIV-1 specific T-cell responses and genetic markers while previously enrolled in the 5-year longitudinal adolescent study, "REACH." Blood samples…
- Trial name
- NCT00107029
- Where
- 10 sites in United States
- Volunteers
- 113 people
- Sponsor
- University of North Carolina, Chapel Hill
Digestive System Disease
Epidemiological Screening of IL10RA Mutation Rate in China
The presentation of IBD in early childhood is uncommon and the monogenetic defects, especially IL-10 signaling pathway play a key role in very early onset inflammatory bowel disease (VEO-IBD).
- Trial name
- Yes (NCT03097731)
- Where
- China
- Sponsor
- Children's Hospital of Fudan University
Carcinoma, Non-Small-Cell Lung
A Clinical Study of Bemcentinib With Standard of Care Chemoimmunotherapy in Untreated Advanced/Metastatic Non-small Cell Lung Cancer Patients With a Mutation in the STK11 Gene
The primary purpose of this study is to determine the safety and tolerability of the combination of bemcentinib with chemo-immunotherapy (CIT) to identify the recommended phase 2 dose (RP2D) when administered as first line (1L)…
- Trial name
- NCT05469178
- Testing
- Bemcentinib, Pembrolizumab, Pemetrexed
- Where
- 34 sites in United States, France and 5 more
- Volunteers
- 26 people
- Sponsor
- BerGenBio ASA
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Cancer Prevention in Women With a BRCA Mutation
This study aims to develop a follow-up telephone-based genetic counselling (FTGC) intervention for women with a BRCA1 or BRCA2 mutation who have received genetic counseling in the past.
- Conditions
- BRCA1 Gene Mutation, BRCA2 Gene Mutation, Breast Cancer, Ovarian Cancer
- Trial name
- NCT02225015
- Testing
- Follow-up Telephone Genetic Counselling
- Where
- 3 sites in Canada
- Volunteers
- 300 people
- Sponsor
- Women's College Hospital
Non Small Cell Lung Cancer
DZD6008 Combination Therapy in Patients With Locally Advanced or Metastatic NSCLC With EGFR Mutation (TIAN-SHAN7)
This study is designed to evaluate safety and antitumor activity of DZD6008 combination therapy in patients with advanced Non-Small Cell Lung Cancer (NSCLC) with Epidermal Growth Factor Receptor (EGFR) mutations.
- Trial name
- NCT07070440
- Testing
- DZD6008, Pemetrexed, Carboplatin
- Where
- China
- Volunteers
- 180 people
- Sponsor
- Dizal Pharmaceuticals
Mastocytosis
Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis
This is a 12 weeks study aimed at assessing the safety and efficacy of 2 doses of AB1010 in patients suffering from indolent systemic mastocytosis with handicap.
- Trial name
- NCT00831974
- Testing
- masitinib (AB1010)
- Volunteers
- 23 people
- Sponsor
- AB Science
Non Small Cell Lung Carcinoma
SELINE: Second-Line Iressa Phase IV Study in NSCLC Patients
The purpose of this study is to evaluate ORR (Objective Response Rate) of gefitinib as a second-line therapy for NSCLC patients based on RECIST (Response Evaluation Criteria in Solid Tumors Group) and check up ORR difference by…
- Trial name
- SELINE (NCT00608868)
- Testing
- Gefitinib
- Where
- South Korea
- Volunteers
- 156 people
- Sponsor
- AstraZeneca
Malignant Melanoma, Brain Metastases
E6201 Plus Dabrafenib for the Treatment of Metastatic Melanoma Central Nervous System Metastases (CNS)
This is a Phase 1 study of E6201 plus dabrafenib for the treatment of CNS metastases in BRAF V600-mutated metastatic melanoma. A total of up to N=28-34 subjects with melanoma metastasized to the CNS will be included.
- Trial name
- NCT03332589
- Testing
- E6201, E6201 plus dabrafenib
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Spirita Oncology, LLC
BRCA1 Mutation Carrier, BRCA2 Mutation Carrier
Transdermal or Oral Telapristone Acetate in Treating Patients Undergoing Mastectomy
This randomized trial studies transdermal or oral telapristone acetate in treating patients undergoing surgery to remove the breast (mastectomy).
- Conditions
- BRCA1 Mutation Carrier, BRCA2 Mutation Carrier, Ductal Breast Carcinoma In Situ, Lobular Breast Carcinoma In Situ
- Trial name
- NCT02314156
- Testing
- Telapristone Acetate, Laboratory Biomarker Analysis, Questionnaire Administration
- Where
- 3 sites in United States
- Volunteers
- 67 people
- Sponsor
- Northwestern University
Cystic Fibrosis
Study of VX-661 Alone and in Combination With Ivacaftor in Subjects Homozygous or Heterozygous to the F508del-Cystic Fibrosis Transmembrane Conductance Regulator(CFTR) Mutation
The purpose of this study is to evaluate the safety, efficacy, pharmacokinetics (PK), and pharmacodynamics (PD) effects of VX-661 alone and when coadministered with ivacaftor in participants with cystic fibrosis (CF) who are…
- Trial name
- NCT01531673
- Testing
- VX-661, Ivacaftor
- Where
- 36 sites in United States, Canada and 2 more
- Volunteers
- 194 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Pulmonary Arterial Hypertension
Screening of Pulmonary Arterial Hypertension in BMPR2 Mutation Carriers
In this prospective study, the investigators will implement a systematic screening program and 3-year follow-up in a cohort of asymptomatic BMPR2 mutation carriers.
- Trial name
- DELPHI-2 (NCT01600898)
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Craniosynostosis, Muenke Syndrome
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth.
- Trial name
- NCT00106977
- Where
- 2 sites in United States
- Volunteers
- 137 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Pancreatic Cancer
Mutation of K-RAS, CDKN2A, SMAD4 and TP53 in Pancreatic Cancer: Role of Liquid Biopsy in Preoperative Diagnosis
Pancreatic cancers represent a challenge for the multidisciplinal team. A patient-tailored treatment plan requires an accurate preoperative staging.
- Trial name
- NCT03524677
- Testing
- Liquid Biopsy
- Where
- 3 sites in Ireland, Italy
- Volunteers
- 50 people
- Sponsor
- University of Roma La Sapienza
Non-small Cell Lung Cancer, EGFR Activating Mutation
Osimertinib Plus Dalpiciclib in Patients With EGFR-mutant, CDK4/6 Pathway Aberrant, Advanced Non-small Cell Lung Cancer Following Acquired Resistance to Third-generation EGFR TKI: a Phase II Trial
This study is a prospective, single-arm, phase II trial. It is aimed to evaluate the efficacy and safety of the combination of osimertinib and dalpiciclib in patients with EGFR-mutant, CDK4/6 pathway aberrant, advanced NSCLC…
- Conditions
- Non-small Cell Lung Cancer, EGFR Activating Mutation, Cell Cycle Deregulation, EGFR-TKI Resistant Mutation
- Trial name
- NCT06363734
- Testing
- Osimertinib plus Dalpiciclib
- Where
- China
- Volunteers
- 32 people
- Sponsor
- Tianjin Medical University Cancer Institute and Hospital
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