Clinical trials: Genetic Mutation
Lynch Syndrome, Lynch Syndrome I
Videocapsule Endoscopy in Lynch Syndrome
Background Lynch syndrome is caused by a pathogenic variant in one of the four Mismatch Repair genes (MMR): MLH1, MSH2/Epcam, MSH6, or PMS2.
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, MLH1 Gene Mutation
- Trial name
- NCT05704010
- Testing
- Video capsule endoscopy
- Where
- Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
Cancer, Circulating Tumor DNA Detection
Detection Technology of Peripheral Blood ctDNA Based on CRISPR/Cas and Gold Nanoparticles
This study tests a new, fast blood test that may help detect very small traces of tumor DNA in the bloodstream. When tumor cells die, they release small pieces of DNA called circulating tumor DNA (ctDNA) into the blood.
- Trial name
- NCT07916636
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- The First Affiliated Hospital of Zhengzhou University
Healthy Volunteers
A Study to Investigate the Effects of Acid Reducing Agents on Pharmacokinetics of PC14586 in Healthy Participants
This study will assess the effect of a Proton Pump Inhibitor (PPI) (rabeprazole) on the pharmacokinetics (PK) of PC14586 and the effect of an H2-receptor antagonist (famotidine) on the PK of PC14586
- Trial name
- NCT06054464
- Testing
- PC14586, Rabeprazole, Famotidine
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- PMV Pharmaceuticals, Inc
Hemoglobin Mutations, Erythrocyte Variants
Collection of Blood From Persons With Hemoglobin and Erythrocyte Polymorphisms for Laboratory Malaria Research
This study will collect blood samples for use in laboratory studies of malaria. The World Health Organization reports that 40 percent of the world's population is at risk for malaria, mostly in the poorest countries.
- Trial name
- NCT00277849
- Where
- United States
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Chiari Malformation, Type 1
Identification of Genetic Mutations Involved in Chiari Type I Malformations
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations.
- Trial name
- ChiariGene (NCT05165030)
- Testing
- Blood Sample
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Thrombocytopenia, Isolated, Thrombocytopenia 4
Unravelling the Role of Apoptosis in Platelets Biogenesis Through the Study of the Thrombocytopenia THC4
Inherited thrombocytopenias (ITs) are disorders characterized by a reduced platelet count, caused by variants in at least 40 genes. Mutations in CYCS cause a rare autosomal-dominant IT, named Thrombocytopenia 4 (THC4).
- Conditions
- Thrombocytopenia, Isolated, Thrombocytopenia 4, CYCS MUTATION- ASSOCIATED THROMBOCYTOPENIA THC4
- Trial name
- THC4 (NCT07026578)
- Testing
- Blood draw for the laboratory assessment
- Where
- Italy
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
BRCA1/2 Mutation
INO 5401 Vaccination in BRCA1/2 Mutation Carriers
The research study is being conducted to test an experimental vaccine to potentially prevent cancer for people with BRCA1 or BRCA2 mutations.
- Trial name
- NCT04367675
- Testing
- INO-5401, INO-9012, Cellectra 2000
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
BRCA1 Mutation, BRCA2 Mutation
Promoting Men's Adherence to BRCA1/2 Germline Genetic Testing
BRCA1- and BRCA2-associated Hereditary Breast and Ovarian Cancer Syndrome (HBOC) increases the relative and absolute risk of developing breast and ovarian cancer and, to a lesser extent, prostate and pancreatic cancer.
- Conditions
- BRCA1 Mutation, BRCA2 Mutation, Psychosocial Factors
- Trial name
- BRCA-MEN (NCT04683068)
- Testing
- Message comparison
- Where
- Italy
- Volunteers
- 264 people, healthy volunteers welcome
- Sponsor
- European Institute of Oncology
Parkinson Disease, LRRK2
LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
- Conditions
- Parkinson Disease, LRRK2, GBA Gene Mutation
- Trial name
- BioPD (NCT04668898)
- Where
- United States
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Icahn School of Medicine at Mount Sinai
Colorectal Cancer, Adenoma Colon
Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection
This is an multicenter study that will test the diagnostic accuracy of a blood test (i.e., a liquid biopsy) for the diagnosis of colorectal cancer (CRC), advanced adenomas (AAs), as well as Lynch-syndrome associated cancers.
- Conditions
- Colorectal Cancer, Adenoma Colon, Adenoma Colon Polyp, Colon Adenoma
- Trial name
- BEACON (NCT07450612)
- Testing
- BEACON
- Where
- 4 sites in Italy
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
Pheochromocytoma, Paraganglioma
Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous.
- Conditions
- Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome, Associated Conditions
- Trial name
- NCT03160274
- Testing
- Genetic screening
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center at San Antonio
HER2-positive Breast Cancer, HER2 Low
ISPY-P1.01:Evaluating the Safety of Weekly Paclitaxel With Trastuzumab Duocarmazine (SYD985) in Patients With Metastatic Cancer
This is an open-label, single-arm, multi-site phase I/Ib trial with SYD985, an antibody-drug conjugate (ADC) targeting HER2 on the cell membrane, combined with paclitaxel.
- Conditions
- HER2-positive Breast Cancer, HER2 Low, SYD-985, SYD985
- Trial name
- NCT04602117
- Testing
- Vic-trastuzumab duocarmazine (SYD985) + paclitaxel
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- QuantumLeap Healthcare Collaborative
Schizophrenia, Chinese Han People
Mutation Screening and Translocation Detection of DISC1 Gene in Schizophrenia
Several chromosomal loci obtained from genetic linkage studies have been reported of relating to schizophrenia. These areas include of 1q32-41, 6p24-21, 8p22-21, 15q13-14, and 22q11-12.
- Trial name
- NCT00155818
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Duchenne Muscular Dystrophy, Exon 44
Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping
AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants…
- Trial name
- EXPLORE44 (NCT05670730)
- Testing
- AOC 1044
- Where
- 10 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Avidity Biosciences, Inc.
Breast Carcinoma, Genetic Predisposition to Cancer
MEASUREMENT OF CIRCULATING MUTATION BURDEN
Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer
- Conditions
- Breast Carcinoma, Genetic Predisposition to Cancer, BRCA Mutation, cfMB
- Trial name
- cRISK (NCT06792721)
- Testing
- Mutation Burden cfMB analysis
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Centre Francois Baclesse
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6
- Trial name
- NCT01060371
- Testing
- Genetic Testing, Blood Collection, Magnetic Resonance Imaging (MRI) Scan
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- Lauren Moore
Cancer of Unknown Primary, Bone Cancer Metastatic
Tislelizumab Combined With Chemotherapy in the Treatment of Bone Metastases of Unknown Primary
Through scientific and rigorous design, implementation, follow-up and statistics, the sponsor aims to explore the clinical efficacy and safety of Tislelizumab combined with chemotherapy (platinum + paclitaxel) in the treatment of…
- Conditions
- Cancer of Unknown Primary, Bone Cancer Metastatic, Tislelizumab, Gene Mutation-Related Cancer
- Trial name
- NCT05241132
- Testing
- Tislelizumab plus chemotherapy
- Where
- China
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Wei Xu
Gene Mutation-Related Cancer, Genetic Predisposition
Genetic Information Assistant in Telegenetics
The goal of this clinical trial is to learn about different ways cancer genetic screening can be provided to rural communities in participants at high risk for certain cancers.
- Trial name
- NCT06089421
- Testing
- Genetic Information Assistant, Telegenetics with UVA genetic counselor
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Gynecologic Cancer, Breast Cancer
Web-based Family History Tool
The purpose of this pilot study is to determine if a web-based tool that collects family health history is useful for patients being seen in a gynecologic oncology office setting.
- Conditions
- Gynecologic Cancer, Breast Cancer, BRCA1 Mutation, BRCA2 Mutation
- Trial name
- Progeny (NCT04890327)
- Testing
- Web-based family health history tool
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Carcinoma, Non-Small-Cell Lung
Osimertinib Combined With Bevacizumab in the Treatment Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertions Metastatic Non-Small Cell Lung Cancer
There is no muture method to treat EGFR 20 insertion mutation non-small-cell lung cancer (NSCLC). the he purpose of this study is to study osimertinib combined with bevacizumab in the management of it.
- Trial name
- NCT04974879
- Testing
- Osimertinib Oral Tablet
- Where
- China
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Qingdao Central Hospital