Clinical trials: Mutation Abnormality
Giant Cell Arteritis (GCA), Polymyalgia Rheumatica (PMR)
AYLo - AutoimmunitY and Loss of y
The AYLo study (AutoimmunitY and Loss of y - Investigating the Role of Hematopoietic Mutations and Mosaic Mutation in the Y Chromosome in Autoimmune Rheumatologic Diseases) aims to systematically investigate hematopoietic…
- Conditions
- Giant Cell Arteritis (GCA), Polymyalgia Rheumatica (PMR), ANCA Associated Vasculitis (AAV), Idiopathic Inflammatory Myopathies
- Trial name
- AYLo (NCT06696027)
- Testing
- Single nucleotide polymorphisms (SNP), 3'mRNA sequencing, Enzyme-linked immunosorbent assay (ELISA) and Legendplex Array
- Where
- Germany
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Bonn
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
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How Itraconazole and Carbamazepine Affect the Level of BAY2927088 in the Blood When These Drugs Are Taken Together by 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 EGFR and HER2 mutations.
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06348888
- Testing
- BAY2927088, Itraconazole, Carbamazepine
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Bayer
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
MELAS Syndrome, Mitochondrial Respiratory Chain Deficiencies
Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers
The purpose of this First In Human study is to investigate the safety and tolerability of KL1333 after a single oral dose and to investigate the pharmacokinetic characteristics of KL1333 after a single oral dose.
- Trial name
- NCT03056209
- Testing
- KL1333 25 mg, KL1333 50 mg, KL1333 100 mg
- Where
- South Korea
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Yungjin Pharm. Co., Ltd.
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome/TP53 Biobank
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene.
- Trial name
- NCT04367246
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Parkinson Disease, GBA Gene Mutation
Evaluation of the Frequency and Severity of Sleep Abnormalities in Patients With Parkinson's Disease
Sleep disturbances are one of the most common non-motor symptoms in PD, with an estimated prevalence as high as 40-90%. Sleep disturbances (particularly sleep duration, sleep fragmentation, Rapid Eye Movement (REM) sleep behavior…
- Conditions
- Parkinson Disease, GBA Gene Mutation, Leucine-rich Repeat Kinase 2 (LRRK2) Gene Mutation
- Trial name
- NCT04387812
- Testing
- Xtrodes home PSG system
- Where
- Israel
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Pain, Pulmonary Nodules
Effect of CYP2D6*10 Gene Mutation on Perioperative Precision Analgesia of Oxycodone in Elderly Patients
The purpose of this prospective study was to determine the effect of CYP2D6 gene polymorphism on perioperative analgesia of oxycodone in elderly patients, and to assign the CYP2D6 phenotype according to the genotype, and to use…
- Conditions
- Pain, Pulmonary Nodules, Oxycodone
- Trial name
- NCT07484867
- Testing
- oxycodone
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Henan Provincial People's Hospital
BRCA1 Gene Mutation, BRCA2 Gene Mutation
The Link Between BRCA Mutation and Endothelial Function
This study evaluates the effect of BRCA1\&2 mutations on cardiovascular diseases by to comparing the endothelial function of male BRCA mutation carriers with that of age matched non-BRCA mutation carriers.
- Trial name
- NCT02474264
- Testing
- Endothelial function assessment, Cardiovascular biomarkers, Endothelial cells
- Where
- Israel
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
Anatomic Stage IA Breast Cancer AJCC v8, Anatomic Stage IB Breast Cancer AJCC v8
Prospective Registry Trial for Single Port Robot-assisted Nipple Sparing Mastectomy (SPrNSM)
This is a prospective registry trial to determine the outcomes of single port robot-assisted nipple sparing mastectomy (SPrNSM) utilitzing the SP da Vinci surgical system.
- Conditions
- Anatomic Stage IA Breast Cancer AJCC v8, Anatomic Stage IB Breast Cancer AJCC v8, Anatomic Stage IIA Breast Cancer AJCC v8, Anatomic Stage II Breast Cancer AJCC v8
- Trial name
- SPrNSM (NCT04866992)
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Primary Lymphedema
Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)
The investigators will describe the expression of mutation CELSR1 with codon stop and amino acids substitution mechanism in primary lymphedema, in both clinical examination and imaging exploration
- Trial name
- CELSR1 (NCT04919655)
- Where
- France
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
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
Activating ALK Gene Mutation Negative, Activating EGFR Gene Mutation Negative
Genetics and Shared Decision Making in Improving Care for Patients With Stage IVA-C Non-small Cell Lung Cancer
This trial studies the use of genetics and shared decision making in improving care for patients with stage IVA-C non-small cell lung cancer.
- Conditions
- Activating ALK Gene Mutation Negative, Activating EGFR Gene Mutation Negative, Activating ROS1 Gene Mutation Negative, Health Care Provider
- Trial name
- NCT03944265
- Testing
- Counseling, Questionnaire Administration, Medical Chart Review
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Thomas Jefferson University
Brain Tumor, Glioma
Metabolic Characterization of Space Occupying Lesions of the Brain
High field MR-technologies are expected to boost metabolic spectroscopic imaging (MRSI), but also CEST-MRI. This is due to the fact that increased SNR is available which can be used to increase the spatial resolution of all…
- Conditions
- Brain Tumor, Glioma, IDH Mutation
- Trial name
- FASTMRSI (NCT04233788)
- Testing
- MR-scans using a 3T Prisma and a 7T Terra scanner (Siemens, Erlangen Germany)
- Where
- Switzerland
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Autism Spectrum Disorder
Study of the Genetic Factors Involved in Autism and Related Disorders
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development.
- Trial name
- Gene&autism (NCT04727489)
- Testing
- DNA from subjects will be stored in the biobank of our study.
- Where
- 6 sites in France
- Volunteers
- 3,800 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Mitochondrial Disorders, Li-Fraumeni Syndrome
Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
This study will examine metabolic and biological factors in people with Li-Fraumeni syndrome, a rare hereditary disorder that greatly increases a person's susceptibility to cancer.
- Conditions
- Mitochondrial Disorders, Li-Fraumeni Syndrome, Carriers of p53 Mutation
- Trial name
- NCT00406445
- Where
- United States
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Breast Cancer Risk, Ovarian Cancer Risk
Population Based Germline Testing for Early Detection and Prevention of Cancer
PROTECT-C is a research study offering genetic testing to people to see whether they have a genetic change that increases their risk of breast, ovary, bowel, and/or womb cancer.
- Conditions
- Breast Cancer Risk, Ovarian Cancer Risk, Cancer Gene Mutation
- Trial name
- PROTECT-C (NCT07498829)
- Testing
- Genetic testing for Cancer Susceptibility Genes (CSGs) (BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2, MLH1, MSH2, MSH6) and personalised breast and ovarian cancer risk
- Where
- United Kingdom
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- Queen Mary University of London
Acute Myeloid Leukemia, Myelodysplastic Syndromes
Screening Gene Mutations in Myeloid Cancers by Next Generation Sequencing to Improve Treatment Results
Genetic mutations have closely linked to the pathogenesis and prognostication of myeloid cancers. In addition, a number of molecularly targeted agents have been developed in recent years.
- Conditions
- Acute Myeloid Leukemia, Myelodysplastic Syndromes, Myeloproliferative Neoplasm, Aplastic Anemia
- Trial name
- NCT04060485
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Melanoma, BRAF V600 Mutation
Relative Bioavailability of Binimetinib 3 x 15 mg and 45 mg Formulations
The current commercially available MEKTOVI® (binimetinib) 15 mg tablets are provided as immediate release film-coated tablets for oral administration.
- Conditions
- Melanoma, BRAF V600 Mutation, Unresectable Melanoma, Metastatic Melanoma
- Trial name
- NCT05103891
- Testing
- Binimetinib Oral Tablet
- Where
- France
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Pierre Fabre Medicament
Opioid Dependence, Methadone Toxicity
KCNH2 Polymorphisms on the QTc Interval in Kelantanese Malays Patients Receiving Methadone Maintenance Therapy (MMT)
Methadone maintenance therapy (MMT) is one of the modalities to prevent HIV transmission among injected drug users, particularly in opioid-dependent users.
- Conditions
- Opioid Dependence, Methadone Toxicity, HERG Gene Mutation
- Trial name
- NCT03603158
- Where
- Malaysia
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Universiti Sains Malaysia