Clinical trials: Genetic Mutation
BRCA1 Mutation, BRCA2 Mutation
BrUOG 390: Neoadjuvant Treatment With Talazoparib
Ovarian cancer is the most fatal gynecologic cancer; in the US alone an estimated 22,000 women will be diagnosed in 2019, with over 13,000 dying of the disease.
- Conditions
- BRCA1 Mutation, BRCA2 Mutation, Ovarian Cancer, Fallopian Tube Cancer
- Trial name
- NCT04598321
- Testing
- Talazoparib Oral Capsule
- Where
- 2 sites in United States
- Volunteers
- 1 people
- Sponsor
- Brown University
Carcinoma, Non-Small-Cell Lung, EGFR Gene Mutation
In Vitro NSCLC EGFR-Mutant Models for Drug Sensitivity Testing
The PRECISE-EGFR study is a prospective, observational project designed to generate patient-derived in vitro models (cell cultures and organoids) from individuals with non-small cell lung cancer (NSCLC) carrying EGFR mutations.
- Trial name
- PRECISE-EGFR (NCT07697716)
- Volunteers
- 30 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How Food and Esomeprazole Affect the Level of BAY2927088 in the Blood When Taken Together in Healthy Participants
Researchers are looking for a better way to treat people who have advanced non-small cell lung cancer (NSCLC) with specific genetic changes called epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor…
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06378658
- Testing
- BAY2927088, Esomeprazole, Food
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Bayer
Homozygous Familial Hypercholesterolemia
NGGT006 Gene Therapy for Homozygous Familial Hypercholesterolemia
This is an early phase 1, open-label, single-center, dose-escalation, pilot trial to evaluate the safety and efficacy of an intravenous infusion of NGGT006 in homozygous familial hypercholesterolemia (HoFH) patients with LDLR…
- Trial name
- NCT06125847
- Testing
- NGGT006
- Where
- China
- Volunteers
- 21 people
- Sponsor
- First Affiliated Hospital Xi'an Jiaotong University
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENEREXT Study
This is an open-label, multi-centre study in subjects with a genetically confirmed mitochondrial deoxyribonucleic acid (DNA) transfer ribonucleic acid (tRNA)Leu(UUR) m.3243A>G mutation who completed study KH176-202.
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke Like Episodes (MELAS)
- Trial name
- NCT04604548
- Testing
- Oral administration of 100 mg KH176 twice daily
- Where
- 4 sites in Denmark, Germany and 2 more
- Volunteers
- 11 people
- Sponsor
- Khondrion BV
Cerebrovascular Accident, Stroke, Acute
Fabry and Cardiomyopathy (FaCard)
Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients.
- Conditions
- Cerebrovascular Accident, Stroke, Acute, Cerebral Stroke
- Trial name
- FaCard (NCT01429597)
- Where
- Germany
- Sponsor
- CENTOGENE GmbH Rostock
KRAS G12C Mutation Advanced Solid Tumor
Phase 1 Study of HS-10541 as Monotherapy or in Combination With Other Anti-cancer Therapies in Patients With KRAS G12C Mutation Advanced Solid Tumors.
This is a multicenter, open-label phase I clinical trial to evaluate the safety, tolerability, pharmacokinetics, and preliminary efficacy of HS-10541 as monotherapy or in combination with other anti-cancer therapies in…
- Trial name
- NCT07615413
- Testing
- HS-10541
- Volunteers
- 636 people
- Sponsor
- Jiangsu Hansoh Pharmaceutical Co., Ltd.
Erdheim-Chester Disease
Dabrafenib and Trametinib in Treating Patients With Erdheim Chester Disease With BRAF V600 Mutations
This phase II trial studies the side effects and how well dabrafenib and trametinib work in treating patients with Erdheim Chester disease that have BRAF V600 gene mutations.
- Trial name
- NCT03794297
- Testing
- Dabrafenib Mesylate, Quality-of-Life Assessment, Questionnaire Administration
- Where
- United States
- Sponsor
- National Cancer Institute (NCI)
Sensorineural Hearing Loss, Bilateral, AUNB1
Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.
- Conditions
- Sensorineural Hearing Loss, Bilateral, AUNB1, DFNB1A, Congenital Deafness
- Trial name
- Otoconex (NCT05402813)
- Testing
- Pure Tone Audiometry Assessment, Quality of Life Questionnaires
- Where
- France
- Volunteers
- 180 people
- Sponsor
- Sensorion
Non-Small Cell Lung Cancer
Combination Study of RMC-4630 and Sotorasib for NSCLC Subjects With KRASG12C Mutation After Failure of Prior Standard Therapies
The purpose of this study is to evaluate the antitumor effects of sotorasib and RMC-4630 in subjects with KRASG12C mutant NSCLC
- Trial name
- NCT05054725
- Testing
- RMC-4630, Sotorasib
- Where
- 60 sites in United States, Australia and 8 more
- Volunteers
- 47 people
- Sponsor
- Revolution Medicines, Inc.
Rectal Cancer
A Study of Radiotherapy in Rectal Cancer Using Oxaliplatin, Capecitabine With or Without Cetuximab
Primary Objectives To estimate the pathological complete response rate following neoadjuvant radiotherapy with concurrent capecitabine and oxaliplatin, with or without cetuximab based on the KRAS mutation status in rectal cancer.
- Trial name
- NCT00795301
- Testing
- Capecitabine, Cetuximab, Oxaliplatin
- Where
- Singapore
- Volunteers
- 74 people
- Sponsor
- National University Hospital, Singapore
Cardiomyopathy, Dilated
Early Treatment With Candesartan vs Placebo in Genetic Carriers of Dilated Cardiomyopathy (EARLY-GENE Trial)
Prospective, multicenter, randomized, placebo-controlled, double-blind clinical trial to evaluate safety and efficacy of candesartan in the prevention of the development of Dilated Cardiomyopathy (DCM) in genetic carriers of a…
- Trial name
- EARLY-GENE (NCT05321875)
- Testing
- Candesartan
- Where
- Spain
- Volunteers
- 320 people
- Sponsor
- Cristina Avendaño Solá
Non Small Cell Lung Cancer Metastatic, Non Small Cell Lung Cancer Recurrent
Cancer Panel From Blood of Lung Cancer Patients
Molecular profiling of lung cancers using circulating tumor DNA (ctDNA) in the blood of patients is rapidly becoming established as a useful source of information to aid clinical decision-making.
- Trial name
- CAPABLE (NCT03235765)
- Testing
- MACROGEN Pan Cancer Panel (Tier 2)
- Where
- South Korea
- Volunteers
- 200 people
- Sponsor
- Seoul National University Hospital
Healthy Volunteer
Occupancy of Adenosine A2A Receptors Using the PET Radiotracer [18F]MNI-444
The overall goal of this protocol is to evaluate the binding of caffeine to adenosine A2A receptors in the brain of participants at risk for developing PD.
- Trial name
- NCT05009199
- Testing
- [18F]MNI-444
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- Invicro
Carcinoma, Non-Small-Cell Lung
Gene Mutations in Non-Small Cell Lung Cancer Cells
To compare the frequency of individual genetic abnormality between tumor cells and blood specimens.
- Trial name
- NCT00977509
- Where
- Taiwan
- Volunteers
- 200 people
- Sponsor
- National Taiwan University Hospital
Amyotrophic Lateral Sclerosis
Phase II/III Randomized, Placebo-controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis
The purpose of this study will be to demonstrate the safety, tolerability, and efficacy of arimoclomol in subjects with SOD1 positive familial Amyotrophic Lateral Sclerosis (ALS).
- Trial name
- NCT00706147
- Testing
- Arimoclomol
- Where
- 2 sites in United States
- Volunteers
- 38 people
- Sponsor
- University of Miami
Locally Advanced or Metastatic Non Small Cell Lung Cancer Stage IIIb - IV
Assess Efficacy & Safety of Selumetinib in Combination With Docetaxel in Patients Receiving 2nd Line Treatment for v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog (KRAS) Positive NSCLC
The purpose of this study is to assess the efficacy of selumetinib in combination with docetaxel (75mg/m2) vs placebo in combination with docetaxel (75mg/m2) in patients with locally advance or metastatic NSCLCs that harbor…
- Trial name
- SELECT-1 (NCT01933932)
- Testing
- Selumetinib, Docetaxel, Pegylated G-CSF
- Where
- 197 sites in United States, Argentina and 24 more
- Volunteers
- 510 people
- Sponsor
- AstraZeneca
Recurrent Colon Cancer, Extensive Stage Small Cell Lung Cancer
Vaccine Therapy in Treating Patients With Colon, Pancreatic, or Lung Cancer
RATIONALE: Vaccines made from mutated ras peptides may make the body build an immune response to and kill tumor cells. PURPOSE: Phase I trial to study the effectiveness of a vaccine containing mutated ras peptides and an immune…
- Conditions
- Recurrent Colon Cancer, Extensive Stage Small Cell Lung Cancer, Stage III Pancreatic Cancer, Stage III Rectal Cancer
- Trial name
- NCT00019006
- Testing
- Detox-B adjuvant, ras peptide cancer vaccine
- Where
- United States
- Sponsor
- National Cancer Institute (NCI)
Stage I Breast Cancer, Stage II Breast Cancer
Niraparib + Dostarlimab In BRCA Mutated Breast Cancer
This research study involves pre-operative therapy that is specifically targeted for breast cancer in individuals with BRCA and PALB2 mutations.
- Conditions
- Stage I Breast Cancer, Stage II Breast Cancer, Stage III Breast Cancer, Breast Cancer
- Trial name
- NCT04584255
- Testing
- Niraparib, Dostarlimab
- Where
- 8 sites in United States
- Volunteers
- 66 people
- Sponsor
- Dana-Farber Cancer Institute
Aplasia Cutis Congenita
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
- Trial name
- ACC (NCT01630421)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
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