Clinical trials: Gene Mutations
Li-Fraumeni Syndrome, Neoplasms
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Background: Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain.
- Conditions
- Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
- Trial name
- NCT01443468
- Where
- 2 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Atopic Dermatitis
The Role of Filaggrin and FADS Genes on the Concentrations of PUFA Towards Its Effect on Atopic Dermatitis in Infants
The incidence of atopic dermatitis has increased dramatically in this years. Atopic dermatitis occurs due to complex interactions between genetic and environmental factors.
- Trial name
- FLG-FADSgen (NCT02401178)
- Where
- Indonesia
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia
Cardiovascular Disease, Arterial Stiffness
Natural History Study of CADASIL
Background: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy) is a genetic disorder. It causes narrowing of the small blood vessels and can lead to strokes and dementia.
- Conditions
- Cardiovascular Disease, Arterial Stiffness, Germline Mutation in the NOTCH 3 Gene, Pathogenesis of CADASIL
- Trial name
- NCT05072483
- Testing
- MRI
- Where
- United States
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Genetic Predisposition, BRCA Mutation
Frequency of Occult Breast Cancer After Prophylactic Mastectomy Among High-Penetrance Breast Cancer Gene Positives
The role of Sentinel Lymph Node Biopsy(SLNB) among mutation-negative BC patients is well established; however, we are lacking data to assess the role of sentinel lymph node biopsy for patients who are undergoing surgery for…
- Conditions
- Genetic Predisposition, BRCA Mutation, Breast Cancer, Occult Cancer
- Trial name
- OBC-PM (NCT05771454)
- Testing
- Histopathological confirmation
- Where
- Pakistan
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Aga Khan University Hospital, Pakistan
Mutation, Obesity
Identification and Metabolic Characterization of a Cohort of Human Subjects With Mutations in PRDM-16
Chinese male subjects will be invited to participate in a research study of brown fat, a special tissue in the body that is designed to burn energy to make heat.
- Conditions
- Mutation, Obesity, Dyslipidemia, Diabetes
- Trial name
- NCT02808715
- Testing
- Blood Sample Collection
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- National Heart Centre Singapore
Ovarian Cancer Prevention
ASA in Prevention of Ovarian Cancer (STICs and STONEs)
While ASA is not a cancer medication, research suggests that taking ASA reduces the probability of getting many types of cancer because of its anti-inflammatory action.
- Trial name
- NCT03480776
- Testing
- Acetylsalicylic acid
- Where
- 17 sites in Australia, Canada
- Volunteers
- 117 people, healthy volunteers welcome
- Sponsor
- Canadian Cancer Trials Group
Germline Mutations
Early Diagnosis of High-grade Serous Epithelial Ovarian Cancer Through the Analysis of DNA Derived From Pap Test Smear.
Ovarian cancer is the leading cause of death among gynecological malignancies. No screening test is available for this tumor. Serous Tubal Intraepithelial Carcinoma (STIC) is the precursor lesion of the high grade serous ovarian…
- Trial name
- EVATEST (NCT07556562)
- Testing
- RRSO (risk-reducing salpingo- oophorectomy) or RRS (risk-reducing salpingectomy)
- Where
- Italy
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Systemic Lupus Erythematosus
" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by diverse clinical manifestations, prominently involving the skin.
- Trial name
- NCT07397728
- Testing
- TREX1 gene polymorphisms
- Where
- Egypt
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- South Valley University
Myeloproliferative Neoplasms
Ivosidenib and Ruxolitinib in Patients With Advanced Myeloproliferative Neoplasms (MPNs) That Have an IDH1 Gene Mutation
The purpose of this research is to gather information on the safety and effectiveness determining maximum tolerated dose (MTD) of ruxolitinib in combination with ivosidenib in IDH1-mutated advanced-phase Ph-negative MPNs while…
- Trial name
- MPN (NCT06291987)
- Testing
- Ivosidenib, Ruxolitinib
- Where
- 2 sites in United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University of Chicago
Neuroblastoma
A Pilot Study on ALK Gene Mutations in Neuroblastoma
Neuroblastoma (NB) originates from the sympathetic nervous system and is one of the most common cancers in infants and children.
- Trial name
- NCT01986595
- Where
- Taiwan
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Healthy Subjects, Leber Hereditary Optic Neuropathy
Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)
Leber hereditary optic neuropathy (LHON), due to mitochondrial DNA (mtDNA) mutations, is responsible for profound visual impairment. However, there is evidence that optic nerve damage begins before vision declines.
- Trial name
- MétabOCT (NCT06682819)
- Testing
- Optical coherent tomography
- Where
- France
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Hôpital Necker-Enfants Malades
Fabry Disease
Fabry Screening Study
To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population
- Trial name
- NCT01019629
- Where
- United States
- Volunteers
- 2,724 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
BRCA Mutation, PALB2 Gene Mutation
Low Dose TamOxifen and LifestylE Changes for bReast cANcer prevenTion
Circulating levels of Sex Hormone Binding Globulin (SHBG) are significantly associated with a decreased risk of breast cancer. The main aim of this clinical trial is to verify whether Low Dose Tamoxifen (LDT) increases…
- Conditions
- BRCA Mutation, PALB2 Gene Mutation, Ductal Carcinoma in Situ, Lobular Carcinoma in Situ
- Trial name
- TOLERANT (NCT06033092)
- Testing
- Tamoxifen 10 mg Tablet, Intermittent caloric restriction, Step counter Device
- Where
- 4 sites in Italy
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- European Institute of Oncology