Clinical trials: Mutation Abnormality
Ovarian Cancer, BRCA Mutation
Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer
The overall goal of the Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer (PROMISE) study is to better understand how women may incorporate both polygenic risk score (PRS) and novel early detection…
- Trial name
- PROMISE (NCT06436248)
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Non-Small Cell Lung Cancer, KRAS Mutation-Related Tumors
Binimetinib and Hydroxychloroquine in Patients With Advanced KRAS Mutant Non-Small Cell Lung Cancer
This study will evaluate using hydroxychloroquine (HCQ) along with binimetinib as an effective method for treating cancer. All patients will receive binimetinib at a standard dose approved for other cancers.
- Trial name
- NCT04735068
- Testing
- Binimetinib Pill, Hydroxychloroquine Pill
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
HER2-positive Breast Cancer, HER2 Low
ISPY-P1.01:Evaluating the Safety of Weekly Paclitaxel With Trastuzumab Duocarmazine (SYD985) in Patients With Metastatic Cancer
This is an open-label, single-arm, multi-site phase I/Ib trial with SYD985, an antibody-drug conjugate (ADC) targeting HER2 on the cell membrane, combined with paclitaxel.
- Conditions
- HER2-positive Breast Cancer, HER2 Low, SYD-985, SYD985
- Trial name
- NCT04602117
- Testing
- Vic-trastuzumab duocarmazine (SYD985) + paclitaxel
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- QuantumLeap Healthcare Collaborative
Hearing Impairment
Epidemiology of Non-syndromic Dominant Deafness
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness.
- Trial name
- SURDOM (NCT01150305)
- Testing
- blood sample
- Where
- France
- Volunteers
- 183 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
MODY-2 Diabetes
The Effect of ß-cell Specific Glucokinase Mutation on Glucose Homeostasis and Insulin Secretion in a MODY-2 Family
Type 2 diabetes mellitus patients exhibit many glucose homeostasis abnormalities in different tissues and organs. Among the more important defects are disturbed hepatic glucose metabolism and defective pancreatic β-cell function.
- Trial name
- NCT01960231
- Testing
- OGTT
- Where
- Israel
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Sheba Medical Center
Heterozygous Carriers of Gitelman Syndrome
Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter
Gitelman syndrome is a salt wasting tubulopathy caused by mutations in the SLC12A3 gene coding for the thiazide sensitive sodium chloride cotransporter.
- Trial name
- HEPHYGI (NCT02035046)
- Testing
- Samplings of blood, Sampling of urine, Measure of the blood pressure
- Where
- 5 sites in France
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Prion Diseases
Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers
The human Prion diseases can be classified into sporadic, acquired and inherited forms. Inherited forms usually manifest in higher age so there have to be factors preventing Prion propagation in young mutation carriers.
- Trial name
- PRNP (NCT02837705)
- Testing
- blood draw
- Where
- 7 sites in United States, Austria and 5 more
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- University of Zurich
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
Systemic Lupus Erythematosus (SLE)
GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus
Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease for which the aetiology includes genet-ic and environmental factors. It is rare in children as compared to adults.
- Trial name
- GENIAL (NCT01992666)
- Testing
- Blood sampling
- Where
- 26 sites in France
- Volunteers
- 271 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
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)
Diffuse Large B Cell Lymphoma
ZR-CHOP in DLBCL With Specific Gene Abnormality
This is a phase 2, single center clinical trial. to evaluating the efficacy and safety of Zanubrutinib in combination with R-CHOP in newly diagnosed diffuse large B-cell lymphoma with specific gene abnormality.
- Trial name
- NCT05290337
- Testing
- zanubrutinib
- Where
- China
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Fudan University
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How BAY2927088 Affects the Level of Midazolam in the Blood When Both Drugs Are 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
- NCT06360211
- Testing
- BAY2927088, Midazolam
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Bayer
Glaucoma, Healthy
Cause of Pigment Dispersion Syndrome
The purpose of this study is to learn how pigment is released from the iris (the colored part of the eye) in patients with pigment dispersion syndrome.
- Conditions
- Glaucoma, Healthy, Pigment Dispersion Syndrome
- Trial name
- NCT00005919
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Parkinson Disease, PARK1
Molecular and Functional Imaging in SNCA, Parkin and PINK1
Parkinson's Disease (PD) is a progressive neurodegenerative disease characterized clinically by bradykinesia, resting tremor, rigidity, and postural instability.
- Conditions
- Parkinson Disease, PARK1, PARK2
- Trial name
- NCT04084509
- Volunteers
- healthy volunteers welcome
- Sponsor
- King's College London
Lung Cancer, EGFR Gene Mutation
EQUAL: EGFR ctDNA QUantative Assessment for Lung Cancer Screening in Asian and Latinx Populations
This research study is studying a new blood test to screen for Epidermal Growth Factor Receptor (EGFR) positive lung cancer in healthy individuals at risk for the disease and who cannot undergo regular lung cancer screening.
- Trial name
- EQUAL (NCT06716580)
- Testing
- Circulating Tumor DNA (ctDNA) Assay
- Where
- 6 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Dana-Farber Cancer Institute
Creutzfeldt-Jakob Disease (CJD)
A Natural History Study of Preclinical Genetic Creutzfeldt-Jakob Disease (CJD)
Creutzfeldt-Jakob Disease (CJD) is the most common prion disease in humans causing a rapidly progressive neurological decline and dementia and is invariably fatal.
- Trial name
- NHS_CJD (NCT05746715)
- Where
- Israel
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
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
Autism Spectrum Disorders
Susceptibility Genes in Autism Spectrum 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
- NCT02628808
- Where
- 5 sites in France
- Volunteers
- 1,616 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Atopic Dermatitis, Ichthyosis Vulgaris
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris.
- Trial name
- NCT01016106
- Testing
- Buccal Swab
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Breast Cancer
The Registration Program of BRCA1/2 Gene
Purpose: 1. Screening of large samples is to search the gene mutation of the breast cancer susceptibility gene (BRCA1 and BRCA2) in Chinese high risk group. 2.
- Trial name
- RCA (NCT02593435)
- Testing
- NGS test
- Where
- China
- Volunteers
- 8,000 people, healthy volunteers welcome
- Sponsor
- Chinese Anti-Cancer Association