Clinical trials: Genetic Mutation
BRCA1 Mutation, BRCA2 Mutation
Pre-Salpingo-Oophorectomy Pilot Study of MAKO 7 Device Performance
This study evaluates the ability of the MAKO 7 device to collect various cells
- Conditions
- BRCA1 Mutation, BRCA2 Mutation, Atypia Suspicious for Malignancy
- Trial name
- NCT02974842
- Testing
- MAKO 7
- Where
- 3 sites in United States
- Volunteers
- 50 people
- Sponsor
- nVision Medical
Genetic Testing, BRCA1/2
Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes
The purpose of this study is to describe how women with BRCA1/2 mutations react to genetic risk modifier testing, and to examine how they make decisions about their healthcare.
- Trial name
- NCT03396341
- Testing
- Salvia sample, Questionnaires, Buccal swab sample
- Where
- 7 sites in United States
- Volunteers
- 806 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Colorectal Cancer
Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI
Objectives: In this Radboud University Nijmegen Medical Centre (RUNMC) initiated study our first objective is to investigate toxicity (safety and feasibility) of vaccination with frameshift-derived neoantigen-loaded DC of CRC…
- Trial name
- NCT01885702
- Testing
- DC vaccination
- Where
- Netherlands
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Preeclampsia
LMWH to Prevent Preeclampsia and Fetal Growth Restriction
The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history…
- Trial name
- NCT00260520
- Testing
- Dalteparin
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Florence
Frontotemporal Dementia, GRN Related Frontotemporal Dementia
Rehabilitative Trial for the Rescue of Neurophysiological Parameters in Progranulin Deficient Subjects
In this randomized, double-blind, sham-controlled study, the investigators will evaluate the effects of frontal and prefrontal anodal transcranial direct current stimulation (tDCS) on neurophysiological parameters of cortical…
- Trial name
- ReRescuePGR (NCT02999282)
- Testing
- Anodal transcranial direct current stimulation
- Where
- Italy
- Volunteers
- 70 people
- Sponsor
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
Metastatic Colorectal Cancer Patients With KRAS Mutated Tumors
Sorafenib in Combination With Irinotecan in Metastatic Colorectal Cancer Patients With KRAS Mutated Tumors
The aim of this multicenter randomized phase II trial is to determine the efficacy of sorafenib and irinotecan combination versus irinotecan monotherapy or versus sorafenib monotherapy in metastatic colorectal cancer patients…
- Trial name
- NEXIRI2 (NCT01715441)
- Testing
- Sorafenib and irinotecan combination, Sorafenib monotherapy, Irinotecan monotherapy
- Where
- 9 sites in France
- Volunteers
- 173 people
- Sponsor
- Institut du Cancer de Montpellier - Val d'Aurelle
Stargardt Disease, Stargardt Macular Degeneration
A Phase 1/2, First-in-Human Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects With Stargardt Disease (STGD1)
This Phase 1/2 study will evaluate the safety, tolerability, and preliminary efficacy of subretinal SB-007 administration to determine dose selection in subjects with Stargardt's Type 1 (STGD1).
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy
- Trial name
- ASTRA (NCT06942572)
- Testing
- SB-007
- Where
- 5 sites in United States
- Volunteers
- 57 people
- Sponsor
- Splice Bio
X-linked Myotubular Myopathy
Myotubular Myopathy Event Study
X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin is essential for optimum muscle function.
- Trial name
- MTMES (NCT01840657)
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Cure CMD
Congenital Myasthenic Syndrome
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7…
- Trial name
- NCT06078553
- Where
- 33 sites in United States, Austria and 10 more
- Volunteers
- 100 people
- Sponsor
- argenx
DOK 8, STAT1
Genetic Analysis of Immune Disorders
The purposes of this study are to 1) identify the genes responsible for certain immune disorders, 2) learn about the medical problems they cause, and 3) learn how to predict who is likely to develop these disorders and what the…
- Conditions
- DOK 8, STAT1, GATA2, Immunodeficiency
- Trial name
- NCT00001467
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Advanced Solid Tumors With an Alteration of the PIK3CA Gene, Estrogen Receptor Positive Breast Cancer
A Study of BYL719 in Adult Patients With Advanced Solid Malignancies, Whose Tumors Have an Alteration of the PIK3CA Gene
This is a first-in-man trial, in which BYL719 will be administered to adult patients with advanced solid tumors, whose tumors have an alteration of the PIK3CA gene and whose disease has progressed despite standard therapy or for…
- Trial name
- NCT01219699
- Testing
- BYL719, Fulvestrant
- Where
- 11 sites in United States, Germany and 3 more
- Volunteers
- 221 people
- Sponsor
- Novartis Pharmaceuticals
NSCLC
A Study With Central Nervous System Metastatic EGFR Mutation Positive Non-small Cell Lung Cancer
This is a descriptive observational study, in which data are collected in an epidemiological fashion and prospective. This study does not intend to intervene the current medical practice of the recruited patients.
- Trial name
- NCT05991193
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Hunan Province Tumor Hospital
Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA)
Personalized Antisense Oligonucleotide for A Single Participant With UBTF Gene Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA) due to a heterozygous missense…
- Trial name
- NCT07588581
- Testing
- nL-UBTF-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
T790M Positive NSCLC Patients
Effect of Osimertinib in Ethnic Chinese With EGFR and T790M Mutated NSCLC
To assess the effectiveness and safety of osimertinib treatment in a real world setting.
- Trial name
- NCT03133234
- Testing
- osimertinib
- Where
- China
- Volunteers
- 47 people
- Sponsor
- AstraZeneca
Cancer, Colorectal Cancer
FOG-001 in Locally Advanced or Metastatic Solid Tumors
The goal of this clinical trial is to determine if FOG-001 is safe and effective in participants with locally advanced or metastatic solid tumors or in participants with familial adenomatous polyposis (FAP).
- Conditions
- Cancer, Colorectal Cancer, Solid Tumor, Locally Advanced Solid Tumor
- Trial name
- NCT05919264
- Testing
- FOG-001, mFOLFOX-6, Nivolumab
- Where
- 33 sites in United States, Australia
- Volunteers
- 619 people
- Sponsor
- Parabilis Medicines, Inc.
Lung Cancer (Non-Small Cell)
IBI351 Plus Cetuximab β in Untreated Advanced Non-small Cell Lung Cancer With KRAS G12C Mutation
Study Design: a Phase II, single-arm, multicenter, prospective, interventional study. Target Population: Subjects with previously untreated, locally advanced or metastatic non-small cell lung cancer (NSCLC) confirmed to harbor…
- Trial name
- NCT07198841
- Testing
- IBI351 combined with cetuximab β
- Where
- 7 sites in China
- Volunteers
- 48 people
- Sponsor
- Guangdong Association of Clinical Trials
BRAF Gene Mutation, Hepatic Complication
Dabrafenib in Treating Patients With Solid Tumors and Kidney or Liver Dysfunction
This phase I trial studies the side effects and best dose of dabrafenib in treating patients with solid tumors and kidney or liver dysfunction.
- Conditions
- BRAF Gene Mutation, Hepatic Complication, Renal Failure, Solid Neoplasm
- Trial name
- NCT01907802
- Testing
- Dabrafenib, Laboratory Biomarker Analysis, Pharmacogenomic Study
- Where
- 18 sites in United States, Canada
- Volunteers
- 8 people
- Sponsor
- National Cancer Institute (NCI)
Breast Cancer, BRCA Mutation
Tranexamic Acid Usage in Bilateral Mastectomy to Reduce Post-surgical Drainage
Tranexamic acid (TxA) is a drug that was approved by the FDA in 1986. It is an antifibrinolytic drug - this means that it is used to promote blood clotting by preventing the breakdown of blood clots that the participant's body…
- Trial name
- NCT05554211
- Testing
- Tranexamic acid, Normal saline
- Where
- 2 sites in United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Northwestern University
HER2 Mutation-Related Tumors, HER2
A Phase 1/1b Study of IAM1363 in HER2 Cancers
This is a Phase 1/1b open-label, multi-center dose escalation and dose optimization study designed to evaluate the safety and preliminary efficacy of IAM1363 in participants with advanced cancers that harbor HER2 alterations.
- Conditions
- HER2 Mutation-Related Tumors, HER2, HER2-positive Breast Cancer, HER2 + Breast Cancer
- Trial name
- NCT06253871
- Testing
- IAM1363
- Where
- 53 sites in United States, France and 6 more
- Volunteers
- 383 people
- Sponsor
- Iambic Therapeutics, Inc
Tuberous Sclerosis Complex
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction…
- Trial name
- NCT04112537
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Montpellier
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