Clinical Trials Logo

Mutation clinical trials

View clinical trials related to Mutation.

Filter by:

NCT ID: NCT05954442 Recruiting - Clinical trials for Metastatic Breast Cancer

Everolimus With Investigator's Choice of Chemotherapy in Advanced Triple-Negative Breast Cancer (TNBC) With Luminal Androgen Receptor (LAR) Subtype

BCTOP-T-M03
Start date: September 13, 2023
Phase: Phase 3
Study type: Interventional

The goal of this clinical trial is to evaluate the efficacy of investigator's choice of chemotherapy, either alone or in combination with everolimus, in treating patients with locally recurrent inoperable or metastatic triple-negative breast cancer, luminal androgen receptor (LAR) subtype with PI3K/AKT/mTOR (PAM) pathway mutation, as the first-line treatment.

NCT ID: NCT05864937 Completed - Mutation Clinical Trials

C677T Methylenetetrahydrofolate Reductase Mutation

C677T
Start date: December 1, 2011
Phase:
Study type: Observational

To investigate the effect of anticoagulant treatment on pregnancy outcomes in patients with previous recurrent miscarriages (RM) who carry a methylenetetrahydrofolate reductase (MTHFR) gene mutation. In this longitudinal retrospective study, patients with RM were treated during pregnancy with either: (i) 100 mg/day aspirin and 5 mg/day folic acid (group 1); or the same protocol plus 0.4 mg/day enoxaparin (group 2). An age-matched group of triparous women without RM or thrombophilia was used as the control group (group 3).

NCT ID: NCT05848271 Recruiting - Genetic Disease Clinical Trials

Natural History Study of Patients With HPDL Mutations

Start date: May 1, 2023
Phase:
Study type: Observational

This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations

NCT ID: NCT05446155 Recruiting - Melanoma Clinical Trials

BioMEL- Diagnostic and Prognostic Factors in Melanoma.

BioMEL
Start date: November 4, 2013
Phase:
Study type: Observational

The investigators' hypothesis is that cutaneous melanoma, melanoma in situ, dysplastic nevi and benign nevi all differ in not only clinical characteristics but also molecular and genotypic characteristics. Patients with suspected primary cutaneous melanoma or a differential diagnosis, or secondary melanoma can be asked to participate in the first part of the project and patients with suspected or confirmed secondary (spread) melanoma can be included in the second part of the study. Participants included in the study answer a validated questionnaire regarding epidemiological and phenotypic factors to map medical history, prior UV exposure, family history of melanoma and/or other cancer types, skin type, smoking habits, alcohol use and quality of life. Blood samples (whole blood) are collected before primary local excision and before secondary surgical procedures as well as during follow up of patients with secondary disease and oncologic treatment. During local excision of the primary pigmented skin lesion, full-thickness skin punch biopsies are taken by trained dermatologists. The biopsies, in the lesion and next to the lesion in the normal skin of the suspected melanoma, are taken, snap frozen and stored deep frozen. The primary lesions are documented by accurate imaging methods prior to excision. Tissue samples from suspected or confirmed secondary melanomas are collected mainly through surgical and core needle biopsies before, during and after treatment and in case of disease progress or treatment failure. Tissue samples are snap-frozen and stored in the same way as samples from primary melanomas. Comprehensive questionnaire based, imaging-based information, as well as histologic information provided from the pathologist report is included and stored in a secure database. All the information in the database, along with information from molecular analysis of tissue and/or blood samples will then be used to find objective, molecular and clinical differences in melanoma, melanoma in situ, dysplastic and benign nevi along with potential information of biological aggressivity of both primary and secondary melanoma in order to find more objective diagnostic markers.

NCT ID: NCT05311709 Recruiting - Cancer Clinical Trials

Sotorasib in Advanced KRASG12C-mutated Non-small Cell Lung Cancer Patients With Comorbidities

SOLUCOM
Start date: May 30, 2022
Phase: Phase 2
Study type: Interventional

A single-arm, multicentre trial to investigate sotorasib in KRASG12C-mutated non-small cell lung cancer stage III/IV not amenable for curative treatment including patients with comorbidities, and to provide translational knowledge regarding mechanism of relapse and differences in responses, including differences among patients with different co-occurring mutations.

NCT ID: NCT05162508 Recruiting - SARS-CoV2 Infection Clinical Trials

Impact of COVID-19 SARS-CoV-2 Variability in ICU Hospitalized Patients With Severe Disease

SEVARVIR
Start date: December 16, 2021
Phase:
Study type: Observational

Background:The impact of the emergence of SARS-CoV-2 variants on the severity and clinical outcomes of COVID-19 is controversial. Whether virological characteristics including the mutational patterns of the different viral proteins (e.g., Spike, NSP proteins, ORF6) could be associated with a different immune response and subsequent severity of the disease is unknown. ln the next coming months, new variants carrying the same or new mutational patterns will continue to emerge. Monitoring their dynamics over time and their impact on disease severity is required for refining national and international disease control policies. Main objective: To unravel the relationships between specific viral mutations/mutational patterns and the clinical outcomes of COVID-19 in patients hospitalized in intensive care units (ICUs) for acute respiratory failure following severe SARS-CoV-2 infection. Design of the study Prospective multicentre observational cohort study Schedule for the study: Inclusion period: 24 months; Participation period: 28 days ; Total duration : 24 months + 28 days;

NCT ID: NCT04983628 Active, not recruiting - Clinical trials for Prostate Cancer Metastatic

Molecular Profiling in Prostate Cancer

ProProstate
Start date: October 1, 2020
Phase:
Study type: Observational

We aim to employ targeted DNA NGS to evaluate the prevalence of germline and somatic mutations in cancer predisposing genes, such as BRCA1 and BRCA2, and other HR and DDR genes, including also a few additional clinically relevant genes, in patients with metastatic, locally advanced or high-grade prostate cancer. In addition, we will investigate the prognostic role of these mutations as well as their association with various clinicopathological parameters. This will be the first study investigating the prevalence of germline and somatic pathogenic mutations in Greek patients with prostate cancer.

NCT ID: NCT04708639 Enrolling by invitation - Lung Cancer Clinical Trials

Monitoring Alectinib Treatment by Detection of ALK Translocations in Serial Blood Samples From Non-Small Cell Lung Cancer Patients

MonAlec
Start date: June 19, 2019
Phase:
Study type: Observational

Circulating tumor DNA can be used to monitor the treatment effect and identify developing resistance mutations during ALK directed TKI treatment.

NCT ID: NCT04068961 Completed - Mutation Clinical Trials

New Strategies of Genetic Study of Patients With Oculocutaneous Albinism

GENALB
Start date: September 15, 2010
Phase:
Study type: Observational

The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.

NCT ID: NCT03902353 Recruiting - Mutation Clinical Trials

Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers

DELPHI-4
Start date: September 23, 2019
Phase: N/A
Study type: Interventional

Pulmonary Veino Occlusive Disease (PVOD) is a rare form of pulmonary arterial hypertension, characterised by a poor prognosis. Recent studies demonstrated that heritable form of pulmonary veino occlusive diseaseis due to bi-allelic mutations in EIF2AK4 gene. heritable pulmonary veino occlusive disease is an autosomal recessive disease. In the french referal center of severe PH, ulmonary veino occlusive disease patients carriers of bi-allelic mutations in EIF2AK4 gene were identified. Genetic counselling in these families allowed to identified herozygous carriers of a single mutation in EIF2AK4 gene. However, to date, nothing is known about the risk of these persons of developping pulmonary diseases. It appears essential to determine the clinical, functional, echocardiographic and radiologics characteristics of these persons, and their risk of developping Pulmonary veino occlusive disease