Clinical trials: Gene Mutations
Peptic Ulcer, Helicobacter Pylori Infection
Clarithromycin Resistant Tailored Therapy
1. Back ground Antibiotics resistance of Helicobacter pylori, especially to clarithromycin is one of the main causes of failure of eradication.
- Trial name
- NCT01453036
- Testing
- 23S rRNA point mutation test of Helicobacter pylori, UBT test & Gastroenterology with biopsy c silver stain
- Where
- South Korea
- Volunteers
- 924 people, healthy volunteers welcome
- Sponsor
- Jin Il Kim
Nevi
Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna)…
- Trial name
- NCT00422448
- Testing
- To test the frequency of BRAF and NRAS mutations among nevi
- Where
- Austria
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Frontotemporal Lobar Degeneration (FTLD), Frontotemporal Dementia (FTD)
Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations
The study will investigate the ability of a new PET tracer, 18F-AV-1451, to detect depositions of a protein, called tau, in the brains of people with a mutation in the tau gene that causes deposition of the protein, and in people…
- Conditions
- Frontotemporal Lobar Degeneration (FTLD), Frontotemporal Dementia (FTD), Tauopathies
- Trial name
- NCT02676843
- Testing
- 18F-AV-1451
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Columbia University
Schizophrenia
PET Imaging Study of Amish and Mennonite Patients With CNTNAP2 Mutations
The primary goal of the present study is to evaluate the utility of mGluR5 binding as measured by PET as biomarker of the CNTNAP2 mutation and related mTOR kinase pathway dysregulation.
- Trial name
- NCT02983058
- Testing
- PET/SPECT Scan, MRI Scan
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Jeffrey A. Lieberman, MD
Short Stature
IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency
With this study we want to investigate the pharmacokinetic (PK) effect of a single injection of rhIGF-1 in patients with PAPP-A2 mutations compared to heterozygous carriers and healthy controls.
- Trial name
- NCT02636270
- Testing
- Increlex
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati