Clinical trials: Gene Mutations
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
Uveal Melanoma, Cutaneous Melanoma
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1.
- Conditions
- Uveal Melanoma, Cutaneous Melanoma, BAP1 Gene Mutation, Renal Cell Carcinoma
- Trial name
- NCT04792463
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Mohamed Abdel-Rahman
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
Colorectal Cancer
Identification of New Colorectal Cancer Genes
The purpose of this study is to define new genes for family risks of developing colon cancer.
- Trial name
- NCT00582335
- Where
- United States
- Volunteers
- 337 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Familial Mediterranean Fever
Inflammatory Proteins in Familial Mediterranean Fever During Attack and Remission
Familial Mediterranean fever (FMF) is a genetic disease, caused by mutations in the FMF gene, entitled MEFV. The disease is characterized by painful attacks of inflammation in sites lined by serous membranes (e.g.
- Trial name
- NCT00323440
- Where
- Israel
- Volunteers
- healthy volunteers welcome
- Sponsor
- Sheba Medical Center
Genetic Diseases, Nonsense Mutations
Safety, Tolerability, Pharmacokinetics of ELX-02 in Healthy Adult Volunteers
This is the first study in humans of ELX-02, an advanced synthetic aminoglycoside optimized as a translational read-through drug (TRID) for the treatment of genetic conditions caused by nonsense. mutations.
- Trial name
- NCT02807961
- Testing
- ELX-02
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Genetics
Parental Irradiation of Ukrainian Cleanup Workers and Evacuees and Germline Mutations in Their Offspring (Trio Study)
Data on transgenerational effects following nuclear accidents are important for understanding fully the consequences of parental exposure to ionizing radiation.
- Trial name
- NCT02566161
- Where
- Ukraine
- Volunteers
- 957 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
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
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
Bladder Cancer, Colorectal Cancer
The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)
The goal of this study is to understand factors which may influence risk for colorectal and other cancers in families. These factors include genetic variability, in combination with diet and lifestyle.
- Conditions
- Bladder Cancer, Colorectal Cancer, Endometrial Cancer, Kidney Cancer
- Trial name
- NCT01447199
- Testing
- Health and Diet Questionnaire
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
SLE (Systemic Lupus)
Clinical Characteristic and MEFV Gene Mutations in Patient With Juvenile Onest Systemic Lupus Erythematosus
Aim and objectives of this study To summarize the main clinical characteristics of patients with jSLE admitted and followed up in Assiut University children's Hospital.
- Trial name
- NCT04645225
- Testing
- . MEFV genetic testing
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Assiut University
BRCA1 Mutations
BRCA1 Haploinsufficiency and Gene Expression
The purpose of this study is to collect a blood sample from patients that may be used for research purposes. These blood samples will be used by researchers at this institution to study the causes of breast and ovarian cancer…
- Trial name
- NCT00597987
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Tubulointerstitial Kidney Diseases, MUC1 Kidney Disease
Effect of Cholecalciferol on Mucin-1 Levels in Urinary Extracelllular Vesicles in Individuals With Autosomal Dominant Tubulo-Interstitial Kidney Disease Due to MUC1 Mutations (ADTKD-MUC1)
Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is caused by mutations in the MUC1 gene encoding the protein mucin-1.
- Trial name
- CyCHOLEMUC1 (NCT07903909)
- Testing
- Cholecalciferol (Vit D3)
- Where
- Cyprus
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Gregory Papagregoriou
Prostate Cancer, Hereditary Prostate Cancer
Targeted Prostate Cancer Screening in Men With BRCA1/2 Mutations
This interventional study is a follow-up component of the IMPACT project, which aims to identify men at increased hereditary risk of prostate cancer.
- Trial name
- IMPACT (NCT07416812)
- Testing
- Targeted Prostate Cancer Screening, Telephone Follow-Up Interview
- Where
- Slovenia
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Institute of Oncology Ljubljana
Parkinson's Disease
Clinical, Molecular and by Neuroimaging of LRRK2 Mutations
Besides Parkinson's disease (PD), it exists rare parkinsonian syndromes clinically close to PD and that correspond to Mendelian entities.
- Trial name
- LRRK2 (NCT01085227)
- Where
- 2 sites in France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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
RAS Mutation, Ras (Kras or Nras) Gene Mutation
Leflunomide or Combination of MEK Inhibitor and Hydroxychloroquine for Refractory Patients With RAS Mutations
There is a huge variety of nucleotide substitutions that activate RAS. The search for new "universal" drugs for the RAS pathway that either interfere with RAS upregulation upstream in the signaling pathway or offset the…
- Conditions
- RAS Mutation, Ras (Kras or Nras) Gene Mutation, Colorectal Cancer Recurrent, Pancreas Cancer
- Trial name
- NТО-RAS (NCT06229340)
- Testing
- Leflunomide, The combination of MEK inhibitor + hydroxychloroquine( plaquenil) ± bevacizumab
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- N.N. Petrov National Medical Research Center of Oncology
Parkinson Disease, Gaucher Disease
Biomarker Analysis for GBA Associated Parkinson's Disease
The primary aim of the study is to conclusively demonstrate the possibility of using the following molecules, α-Synuclein, LRRK2 and Parkin individually or in combination as biomarkers for Parkinson's disease (PD) progression in…
- Trial name
- NCT03811496
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Metabolic Disease
Characterisation of the Human Carboxylesterase 1 (CES1) Mutations in Thailand
The aim of this study is to evaluate the conversion of OP to OC in individual X and the family member of individual X. The investigators hypothesize that one or more of the single nucleoprotein polymorphisms (SNPs) of the CES1…
- Trial name
- NCT01443806
- Testing
- Oseltamivir
- Where
- Thailand
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Oxford