Clinical trials: Genetic Mutation
Alzheimer Disease
Study of Genetic Alzheimer's Disease Mutation Carriers in Preclinical Stages of the Disease 18F-Florbetaben Positron Emission Tomography Study
The main purpose of the study is to assess safety of a single dose of FBB followed by PET scan in individuals at risk of genetic Alzheimer's disease.
- Trial name
- NCT02362880
- Testing
- Florbetaben
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Judit Pich Martínez
Hereditary Breast and Ovarian Cancer Syndrome, Colorectal Neoplasms, Hereditary Nonpolyposis
Risk-Reducing Surgeries for Hereditary Ovarian Cancer
Based on studies of "Inherited Susceptible Genes Among Epithelial Ovarian Cancer" (NCT03015376, clinicaltrials.gov) and "Cohort Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer"…
- Conditions
- Hereditary Breast and Ovarian Cancer Syndrome, Colorectal Neoplasms, Hereditary Nonpolyposis, Ovariectomy, Hysterectomy
- Trial name
- NCT03294343
- Testing
- salpingo-oophorectomy only by laparoscopy, salpingo-oophorectomy with hysterectomy by laparoscopy, Follow-up
- Where
- China
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Lei Li
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
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
Breast Cancer
The Potential for Oral Diindolylmethane (DIM) Supplementation to Increase the Production of the BRCA1 Protein in BRCA1 Mutation Carriers
Women with a BRCA1 mutation face a lifetime risk of breast cancer of approximately 70% and a lifetime risk of ovarian cancer of approximately 40%.
- Trial name
- NCT01022333
- Testing
- Diindolylmethane (DIM)
- Where
- Canada
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Women's College Hospital
Infections, Pneumonia
Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIIES; Job's syndrome) is caused by STAT3 mutations, and is a…
- Conditions
- Infections, Pneumonia, Immune System Diseases, STAT3 Transcription Factor
- Trial name
- NCT00006150
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Lipid Disorder
Genetic Origin of Lipid Disorders
Several lipid disorders are without known genetic origin. The scope of this project is to sequence genes superior involved in lipid and carbohydrate metabolism in patients with severe lipid disorders.
- Trial name
- NCT00277121
- Where
- Norway
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Oslo
Osteopetrosis
Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5
The aim of the study is to describe patients with a high bone mass phenotype due to a mutation in the low density lipoprotein l receptor 5 gene (LRP5) and compare them with age and sex matched controls.
- Trial name
- NCT01199094
- Where
- Denmark
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Odense University Hospital
Acute Myeloid Leukemia With FLT3/ITD Mutation
A Study to Evaluate the Effect of XY0206 on the QTc Interval in Chinese Healthy Participants
This study plans to enroll 45 (Groups A, B, and C) to 75 healthy participants (including the sample size of other potential dose groups). The participants will be divided into three dose groups: 37.5 mg, 75 mg, and 150 mg.
- Trial name
- XY0206-CQT (NCT07162116)
- Testing
- XY0206, Moxifloxacin (400 mg)
- Where
- China
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Shijiazhuang Yiling Pharmaceutical Co. Ltd
Hereditary Elliptocytosis (HE), Hereditary Pyropoikilocytosis (HPP)
A Novel Mutation of the Spectrin Gene
The purpose of this study is to find a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP.
- Trial name
- NCT00723567
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Utah
Parkinson's Disease
Clinical, Molecular and Metabolic Characteristics of Parkinson's Disease (PD) Patients With Parkin Mutation
Parkinson's disease is a frequent neurodegenerative disorder. Genetic forms of the disease have been recently identified. The monogenic form due to parkin mutation is responsible for many familial cases and sporadic forms.
- Trial name
- NCT00169364
- Testing
- positron emission tomography
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Groupe Hospitalier Pitie-Salpetriere
Predisposition, Genetic, Cancer
Investigating the Role of Genetics in Disease Predisposition
Gametogenesis is the production of sperm and eggs; it takes place through the process of meiosis. Gametogenesis is subject to the acquisition of mutations as with other processes in the body.
- Conditions
- Predisposition, Genetic, Cancer, Mutation, Fertility Disorders
- Trial name
- NCT06584994
- Testing
- sample collection
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
HIBM
Clinical, Biological and NMR Outcome Measures Study for Hereditary Inclusion Body Myopathy Due to Mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine Kinase Gene (GNE)
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.
- Trial name
- ClinBio-GNE (NCT02196909)
- Testing
- motor function and strength assessment, NMR assessment, 24h urine and serum collection
- Where
- France
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
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
Long QT Syndrome Type 1 or 2
Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients
The aim of the study is to evaluate the best stress exam to unmask long QT in patient with KCNQ1 or KCNH2 mutation without long QT interval in rest electrocardiogram.
- Trial name
- QT long (NCT01745666)
- Testing
- exercise test, Epinephrine test
- Where
- 8 sites in France
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
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
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
Laminopathy, Lamin A/C Gene Mutation
Subanalysis in Patients With CARDIoLAMinopathy Enrolled to REPORT-CCM Registry
Observational, retrospective registry with acute and chronic endpoints
- Conditions
- Laminopathy, Lamin A/C Gene Mutation, Heart Failure
- Trial name
- CARDILAM-CCM (NCT04904393)
- Testing
- Implant of the device for Cardiac Contractility Modulation (CCM) Therapy
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Monaldi Hospital
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
Osteoporosis Pseudoglioma
Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome
This was a pilot study of 10 patients with Osteoporosis-pseudoglioma syndrome (OPPG) from the Old Order Mennonite community and 16 controls, who did not have OPPG.
- Trial name
- NCT01108068
- Testing
- Lithium
- Where
- United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore