Clinical trials: Genetic Mutations
Breast Cancer, PI3K/AKT/mTOR Pathway Mutation
Efficacy of Everolimus-containing Chemotherapy in HER2- mBC Patients With PI3K/AKT/mTOR Mutations Study
The study aimed to investigate the efficacy of the everolimus-containing chemotherapy in metastatic breast cancer patients with PI3K/AKT/mTOR mutations.14 cases of HER2- metastatic breast cancer patients with PI3K/AKT/mTOR…
- Conditions
- Breast Cancer, PI3K/AKT/mTOR Pathway Mutation, Everolimus
- Trial name
- NCT05054166
- Testing
- No intervention, it was a retrospective study.
- Where
- China
- Volunteers
- 14 people
- Sponsor
- Zhejiang Cancer Hospital
EKLF Mutations in Beta Thalassemia Patients
Detection of Krupple Like Factor -1(KLF1/ EKLF) DNA Mutations in Beta Thalassemia Patients
Detection of KLF1 gene mutations in patients with beta thalassemia considering the alpha and beta molecular status of these patients.
- Trial name
- NCT06433570
- Testing
- multiplex PCR
- Volunteers
- 100 people
- Sponsor
- Assiut University
Familial Adenomatous Polyposis
Azithromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis
Colorectal cancer (CRC) is a leading cause for cancer related mortality in the western world with a lifetime risk of 6%. Etiology is complex, while genetic background significantly affects the risk.
- Trial name
- FAP (NCT04454151)
- Testing
- Azithromycin Tablets
- Where
- Israel
- Volunteers
- 10 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
Cystic Fibrosis
Lumacaftor/Ivacaftor Combination Therapy in Subjects With CF Who Have an A455E CFTR Mutation
This is a Phase 2, randomized, double-blind, placebo-controlled, multicenter, crossover study that will evaluate the efficacy of LUM/IVA in subjects with CF 12 years of age and older who have at least one A455E mutation.
- Trial name
- NCT03061331
- Testing
- LUM/IVA
- Where
- 2 sites in Netherlands
- Volunteers
- 20 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Venous Malformation, Lymphatic Malformation
First in Human Trial of Topical VT30 in Pts With Venous/Lymphatic Malformations Assoc With PIK3CA or TEK Gene Mutations
VT30-101 is a 2-part first-in-human trial of topically administered VT30 to subjects with cutaneous venous malformations, lymphatic malformations, or mixed venolymphatic malformations associated with PIK3CA or TEK mutations.
- Conditions
- Venous Malformation, Lymphatic Malformation, Venolymphatic Malformation
- Trial name
- NCT04409145
- Testing
- VT30
- Where
- 15 sites in United States
- Volunteers
- 15 people
- Sponsor
- Venthera, Inc., a BridgeBio company
HER2-negative Breast Cancer, Metastatic Breast Cancer
Predicting Olaparib Sensitivity in Patients With Unresectable Locally Advanced/Metastatic HER2-negative Breast Cancer.
The primary objetive is to assess the capacity of the RAD51-foci score to predict the efficacy of olaparib in BRCA1/2, PALB2 or RAD51C/D mut advanced breast cancer (cohort 1).
- Conditions
- HER2-negative Breast Cancer, Metastatic Breast Cancer, Triple Negative Breast Cancer
- Trial name
- RADIOLA (NCT05340413)
- Testing
- Olaparib
- Where
- 5 sites in Spain
- Volunteers
- 65 people
- Sponsor
- SOLTI Breast Cancer Research Group
Cancer, Genetic Predisposition
EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer
5 to 10% of cancers are due to the presence of a constitutional genetic alteration. It can be inherited from parents (family form) or by accident, in the first moments of life after fertilization (sporadic form).
- Trial name
- EX²TRICAN (NCT04141462)
- Testing
- blood sample
- Where
- 6 sites in France
- Volunteers
- 613 people
- Sponsor
- Centre Georges Francois Leclerc
Familial Hypercholesterolemia
Cardiovascular Disease in FH Heterozygous
The objective of this project is to establish the current prevalence of cardiovascular disease in adult subjects suffering from genetically diagnosed HF, and to know the impact that drug treatment has course in cardiovascular…
- Trial name
- NCT01783405
- Where
- 3 sites in Spain
- Volunteers
- 1,100 people
- Sponsor
- Sociedad Española de Arteriosclerosis
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
NSCLC
Study of EGFR TKI in Patients With Advanced NSCLC Harbouring EGFR Mutations
The goal of this clinical trial is to explore the efficacy of afatinib in NSCLC harbouring EGFR PACC mutation subtype. The main question it aims to answer is: Afatinib is active in patients with advanced NSCLC harbouring EGFR…
- Trial name
- NCT06062823
- Testing
- Afatinib 40 MG
- Where
- Singapore
- Volunteers
- 35 people
- Sponsor
- National University Hospital, Singapore
Clonal Cytopenia of Undetermined Significance, CCUS Clonal Cytopenia of Undetermined Significance
Enasidenib for Patients With Clonal Cytopenia of Undetermined Significance and Mutations in IDH2A Decentralized Trial
Study researchers think that a drug called enasidenib may help people with clonal cytopenia of undetermined significance (CCUS) because the drug blocks the mutated IDH2 protein, which may improve blood cell counts.
- Trial name
- NCT06240754
- Testing
- Enasidenib
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Washington University School of Medicine
Metastatic Breast Cancer
Study of ESR1 Mutations in Metastatic Breast Cancer
The purpose of the study is to determine the frequency ESR1 mutations by Digital PCR in patient with metastatic breast cancer.
- Trial name
- FMER (NCT02473120)
- Testing
- Determination of ESR1 mutations
- Where
- France
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- Centre Henri Becquerel
Hereditary Breast and Ovarian Cancer, Lynch Syndrome
Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland and affect more than 12,000 individuals annually.
- Trial name
- CASCADE (NCT03124212)
- Testing
- CASCADE genetic screening
- Where
- 9 sites in Switzerland
- Volunteers
- 700 people
- Sponsor
- University of Basel
Advanced Cancer, Non Small Cell Lung Cancer
POTENT - Tepotinib in Combination With Pembrolizumab in NSCLC
This clinical study is looking at the combination of two experimental drugs called tepotinib and pembrolizumab. Pembrolizumab, also known as Keytruda, is licenced and available by prescription to treat a variety of cancers.
- Trial name
- POTENT (NCT05782361)
- Testing
- Tepotinib, Pembrolizumab
- Where
- 4 sites in United Kingdom
- Volunteers
- 19 people
- Sponsor
- Institute of Cancer Research, United Kingdom
Prostate Cancer (Adenocarcinoma), mCRPC (Metastatic Castration-resistant Prostate Cancer)
A Study of Talazoparib With or Without Enzalutamide in People With Prostate Cancer Who Have Previously Received Abiraterone Acetate or Darolutamide
The purpose of this study is to find out whether talazoparib in combination with enzalutamide or talazoparib alone delays cancer progression in people with metastatic castration-resistant prostate cancer (mCRPC) who have…
- Trial name
- TALENT (NCT06844383)
- Testing
- Talazoparib with enzalutamide, Talazoparib
- Where
- 8 sites in United States
- Volunteers
- 126 people
- Sponsor
- Prostate Cancer Clinical Trials Consortium
Paget's Disease of Bone
Genetic Study of Families Affected by Paget's Disease of Bone
Paget's disease of bone is a frequent bone disorder which usually starts after the age of 40 and which is characterized by bone pain and deformities.
- Trial name
- PAGET (NCT00747994)
- Where
- France
- Volunteers
- 83 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Wilson Disease
Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical Trial
The aim of this study is to inform and improve future clinical trials in Wilson Disease (WD) by better understanding how patients with WD are living with and managing the disease, and by identifying key factors that shape their…
- Trial name
- NCT07226622
- Where
- 7 sites in United States
- Volunteers
- 30 people
- Sponsor
- Prime Medicine, Inc.
Breast Cancer
Real-World Outcomes of US Talazoparib-Treated Patients With Locally Advanced or Metastatic Breast Cancer
This study is a retrospective, multi-site, patient-level medical chart review of US adult patients with locally advanced or metastatic breast cancer (ABC) who initiated talazoparib on or after October 16, 2018 and were managed by…
- Trial name
- NCT04987931
- Testing
- Talazoparib
- Where
- United States
- Volunteers
- 84 people
- Sponsor
- Pfizer
Parkinson's Disease
Clinical, Molecular and by Neuroimaging of LRRK2 Mutations
Besides Parkinson's disease (PD), it exists rare parkinsonian syndromes clinically close to PD and that correspond to Mendelian entities.
- Trial name
- LRRK2 (NCT01085227)
- Where
- 2 sites in France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Tumors With CDK4/6 Pathway Activation
LEE011 for Patients With CDK4/6 Pathway Activated Tumors (SIGNATURE)
The purpose of this signal seeking study was to determine whether treatment with LEE011 demonstrates sufficient efficacy in CDK4/6 pathway activated solid tumors and/or hematologic malignancies to warrant further study.
- Trial name
- SIGNATURE (NCT02187783)
- Testing
- LEE011
- Where
- 61 sites in United States
- Volunteers
- 106 people
- Sponsor
- Novartis Pharmaceuticals