Clinical trials: Genetic Mutation
PIK3CA Mutations, Advanced Solid Tumors, Adult
A Study of Mutant Selective-Inhibitor (CGT6297), in Patients With Advanced Solid Tumors
This is a Phase 1, two-part, open-label, nonrandomized, dose-escalation and signal-seeking study of CGT6297, evaluating the safety, tolerability, PK, pharmacodynamic (what the drug does to the body), and antitumor activity of…
- Conditions
- PIK3CA Mutations, Advanced Solid Tumors, Adult, Endometrial Cancer, HR Positive/HER-2 Negative Breast Cancer
- Trial name
- NCT07383506
- Testing
- CGT6297
- Where
- 12 sites in United States
- Volunteers
- 90 people
- Sponsor
- Cogent Biosciences, Inc.
Non Small Cell Lung Cancer
A Study of Abemaciclib (LY2835219) in Participants With Previously Treated KRAS Mutated Lung Cancer
The main purpose of this study is to evaluate how safe and effective the study drug known as abemaciclib is in participants with lung cancer.
- Trial name
- JUNIPER (NCT02152631)
- Testing
- Abemaciclib, Erlotinib
- Where
- 231 sites in United States, Argentina and 19 more
- Volunteers
- 453 people
- Sponsor
- Eli Lilly and Company
Cystic Fibrosis
Rollover Study to Evaluate the Safety and Efficacy of Long-term Treatment With Lumacaftor in Combination With Ivacaftor
Study 110 is a Phase 3, multicenter study in subjects aged 6 years and older with cystic fibrosis (CF) who are homozygous for the F508del-CF transmembrane conductance regulator (CFTR) mutation and who participated in Study 109…
- Trial name
- NCT02544451
- Testing
- LUM/IVA
- Where
- 60 sites in United States, Australia and 7 more
- Volunteers
- 246 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Chronic Lymphocytic Leukemia, Small Lymphocytic Lymphoma
Acalabrutinib in Patients With Relapsed/Refractory and Treatment naïve Deletion 17p CLL/SLL
This study is to determine the response to acalabrutinib in patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL).
- Trial name
- NCT02337829
- Testing
- Acalabrutinib (Arm A), Acalabrutinib (Arm B)
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Acerta Pharma BV
Limb-girdle Muscular Dystrophy
MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
POMT2 mutation is known to cause Walker Warburg Syndrome and Muscle-Brain-Eye syndrome. Recently it has been connected to limb girdle muscular dystrophy (LGMD), a disorder characterized by muscle weakness and atrophy of the…
- Trial name
- NCT02759302
- Where
- Denmark
- Volunteers
- 12 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
NSCLC
Study of FURMONERTINIB in Patients With NSCLC Having Exon 20 Insertion Mutation
This is a phase Ⅰb multi-center clinical study. To explore the preliminary efficacy and safety of Furmonertinib Mesilate at different doses in locally advanced or metastatic NSCLC patients with EGFR exon 20 insertion mutation.
- Trial name
- FAVOUR (NCT04858958)
- Testing
- Furmonertinib 160mg, Furmonertinib 240mg
- Where
- China
- Volunteers
- 90 people
- Sponsor
- Allist Pharmaceuticals, Inc.
Non-Small Cell Lung Cancer
Cohort of Non-small Cell Lung Cancer With Mutation of the Nord Pas de Calais (CB(NPC)²)
The investigators propose to create a database at the regional level, the principle is to include all patients in whom a mutation was detected from a single platform (Lille).
- Trial name
- CB(NPC)² (NCT02448758)
- Where
- 2 sites in France
- Volunteers
- 518 people
- Sponsor
- Centre Oscar Lambret
Breast Cancers, Ovarian Cancers
Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation
Cohort of subjects carrying a BRCA gene mutation: genetic predispositions to breast and ovarian cancers
- Trial name
- GENEPSO (NCT03667417)
- Testing
- Questionnaires
- Where
- France
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Institut Paoli-Calmettes
Cowden's Disease, Hamartoma Syndrome, Multiple
Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes
Background: People with phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartomatous tumor syndromes (PHTS) have a mutation in one of their genes called PTEN that can lead to benign tumors called hamartomas…
- Trial name
- NCT00971789
- Testing
- fludeoxyglucose F 18, sirolimus, Clinical Videography
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- National Cancer Institute (NCI)
ALS (Amyotrophic Lateral Sclerosis)
Extended Study of RAG-17 in the Treatment of Amyotrophic Lateral Sclerosis Patients With SOD1 Gene Mutation
This study primarily evaluates the safety, tolerability, and efficacy of RAG - 17 in adult ALS patients with SOD1 - mutated genes in the real - world setting.
- Trial name
- NCT07077668
- Testing
- A sterile aqueous solution of RAG - 17 preparation (sodium salt)
- Volunteers
- 10 people
- Sponsor
- Beijing Tiantan Hospital
Metastatic Melanoma
Efficacy and Safety Study of Niraparib in Melanoma With Genetic Homologous Recombination (HR) Mutation
This open-label phase II trial studies how well niraparib works in treating patients with advanced, metastatic melanoma with the homologous recombination (HR) pathway gene mutation / alteration.
- Trial name
- NCT03925350
- Testing
- Niraparib
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- California Pacific Medical Center Research Institute
Non-Small Cell Lung Carcinoma, Advanced Non-Small Cell Squamous Lung Cancer
Whole Body HER3 Quantification With Radiolabelled Patritumab Deruxtecan (HER3-DXd) PET/CT
Activity of patritumab deruxtecan (U3-1402; HER3-DXd) has been shown in a phase I/II study in patients with HER3 expressing breast cancer as well as in a phase I study in patients with EGFR TKI refractory EGFR mutation positive…
- Conditions
- Non-Small Cell Lung Carcinoma, Advanced Non-Small Cell Squamous Lung Cancer, EGFR Gene Mutation
- Trial name
- NCT06222489
- Testing
- 89Zr-Patritumab deruxtecan
- Where
- Netherlands
- Volunteers
- 16 people
- Sponsor
- The Netherlands Cancer Institute
Monocarboxylate Transporter 8 Deficiency
Glycerol-Phenylbutyrate Treatment in Children With MCT Mutation (Allan-Herndon- Dudley Syndrome)
Rationale: Thyroid hormone (TH) is crucial for normal brain development. The transporter monocarboxlate transporter 8 (MCT8), located at various organs including brain neurons, is crucial for cellular transport of TH, mainly T3 .
- Trial name
- NCT05019417
- Testing
- Glycerol Phenylbutyrate 1100 MG/ML
- Where
- Israel
- Volunteers
- 6 people
- Sponsor
- Kaplan Medical Center
Malignant Rhabdoid Tumors (MRT), Rhabdoid Tumors of the Kidney (RTK)
A Study of Tazemetostat in Adult Participants With Soft Tissue Sarcoma
This study will include participants with various types of cancer known as soft-tissue sarcomas. Tissues that can be affected by soft tissue sarcomas include fat, muscle, blood vessels, deep skin tissues, tendons and ligaments.
- Conditions
- Malignant Rhabdoid Tumors (MRT), Rhabdoid Tumors of the Kidney (RTK), Atypical Teratoid Rhabdoid Tumors (ATRT), Selected Tumors With Rhabdoid Features
- Trial name
- NCT02601950
- Testing
- Tazemetostat
- Where
- 32 sites in United States, Australia and 7 more
- Volunteers
- 267 people
- Sponsor
- Epizyme, Inc.
Breast Cancer
Elacestrant in Patients With ER+ HER2- ESR1-mutated Locally Advanced or Metastatic Breast Cancer
The objective of this non-interventional study (NIS) is to evaluate prevalence of ESR1 mutation after endocrine therapy in the palliative setting, quality of life, tolerability, and safety and to describe treatment detail and…
- Trial name
- ELENI (NCT07563595)
- Testing
- Elacestrant, Standard of care (Investigator Choice)
- Where
- 3 sites in Germany
- Volunteers
- 500 people
- Sponsor
- iOMEDICO AG
Acute Myeloid Leukemia, IDH1 Gene Mutation
Prevalence and Clinical Effect of IDH1/2 Mutations in Patients With Acute Myeloid Leukemia
Among the most notable cancer genome-wide sequencing discoveries in recent years was the finding of mutation hot-spots in the isocitrate dehydrogenase (IDH) genes in grade II/III astrocytomas and oligodendrogliomas and in…
- Conditions
- Acute Myeloid Leukemia, IDH1 Gene Mutation, IDH2 Gene Mutation
- Trial name
- Euro_IDH_AML (NCT04369287)
- Where
- Italy
- Volunteers
- 654 people
- Sponsor
- Istituto Clinico Humanitas
Solid Tumors Harboring a BRAF V600 Mutation
A Phase Ib/II Study of LGX818 in Combination With MEK162 in Adult Patients With BRAF Dependent Advanced Solid Tumors
This is a multi-center, open-label, dose finding, Phase Ib dose escalation study to estimate the MTD(s) and/or RP2D(s) for the dual combination of LGX818 and MEK162 and the triple combination of LGX818 and MEK162 and LEE011…
- Trial name
- NCT01543698
- Testing
- LGX818, MEK162, LEE011
- Where
- 26 sites in United States, Australia and 7 more
- Volunteers
- 189 people
- Sponsor
- Pfizer
ESR1 Gene Mutation, Breast Cancer (Locally Advanced or Metastatic)
ESR1 Mutations in Metastatic Hormone Receptor-Positive Breast Cancer in the Greek Population
The goal of this observational study is to assess the prevalence of ESR1 mutations in patients with metastatic hormone receptor-positive/HER2-negative breast cancer in Greece and evaluate the associations of these mutations with…
- Conditions
- ESR1 Gene Mutation, Breast Cancer (Locally Advanced or Metastatic), Hormon Receptor Positive Breast Cancer
- Trial name
- ΗΕ 11ESR1/24 (NCT07899463)
- Where
- Greece
- Volunteers
- 500 people
- Sponsor
- Hellenic Cooperative Oncology Group
Retinitis Pigmentosa
Prospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
- Trial name
- PHENOROD2 (NCT04285398)
- Testing
- Ophthalmic examinations, Mobility Test
- Where
- 2 sites in United States, France
- Volunteers
- 82 people
- Sponsor
- SparingVision
Hepatic Vein Thromboses, Hepatic Venous Outflow Obstruction
Global Coagulation Assessment in Portal Vein Thrombosis and Budd-Chiari Syndrome
Portal vein thrombosis is defined as partial or complete occlusion of the portal vein lumen by the blood clot or its replacement by multiple collateral vessels with the hepato-petal flow, known as 'portal cavernoma'.
- Conditions
- Hepatic Vein Thromboses, Hepatic Venous Outflow Obstruction, Portal Vein Thrombosis, Portal Hypertension, Noncirrhotic
- Trial name
- Liv-Thrombus (NCT05123326)
- Testing
- Rotational thromboelastometry, Genetic tests for Thrombophilia, ELISA tests/ Functional assays
- Where
- India
- Volunteers
- 300 people
- Sponsor
- Post Graduate Institute of Medical Education and Research, Chandigarh
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