Search clinical trials for: Germline Pathogenic/Likely pathogenic variants

Total 484 results

Oscar Gerardo Arrieta Rodríguez

Recruiting

Pathogenic Variants in Genes Associated With Lung Adenocarcinoma

Lung Adenocarcinoma

Mexico
Second Affiliated Hospital, School of Medicine,...

Recruiting

Multicenter Study on the Pathogenic Germline Gene Variants of Colorectal Polyposis in China

Colorectal Polyposis

China
King Hussein Cancer Center

Active, not recruiting

Universal Genetic Testing Versus Guidelines-Directed Testing for Germline Pathogenic Variants Among Non-Western Patients With Breast Cancer

Breast Cancer

Jordan
King Hussein Cancer Center

Active, not recruiting

Universal- Versus Guidelines-Directed Genetic Testing for Germline Pathogenic Variants Utilizing a Multi-Gene Panel for Inherited Cancers in Non-Western Society.

Genetic Predisposition

Jordan
Hellenic Cooperative Oncology Group
Hellenic Society of Medical Oncology

Active, not recruiting

Detection of Germline and Somatic Pathogenic Variants in Patients With de Novo Metastatic Breast Cancer

Metastatic Breast Cancer

Greece
IRCCS San Raffaele

Recruiting

Integrated PET/MRI and Germline Variants to Differentiate Brain Tumopr Recurrence From Iatrogenicchanges in Children

Pediatric Brain Tumor

Italy
Hospices Civils de Lyon

Recruiting

Protection Response to Cellular Stress in BPAN's Patient Study (REP-BPAN)

Children and Adults With BPAN Carrying Pathogenic Variants of WDR45

France
Rigshospitalet, Denmark

Recruiting

MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants (ANO5 MRI)

Limb Girdle Muscular Dystrophy

Denmark
Vanderbilt-Ingram Cancer Center
National Cancer Institute (NCI); University of South Florida

Recruiting

Improving Care After Inherited Cancer Testing (IMPACT)

Breast Cancer | Colorectal Cancer | Prostate Cancer | Endometrial Cancer | Inherited Cancer Syndrome

United States
National Cancer Institute (NCI)

Recruiting

Precision-Based Genomics in Prostate Cancer

Prostate Cancer

United States, Spain
National Cancer Institute (NCI)

Recruiting

Whole Exome Sequencing in Finding Causative Variants in Germline DNA Samples From Patients With Peripheral Neuropathy Receiving Paclitaxel for Breast Cancer

Breast Carcinoma | Neuropathy

United States
National Cancer Institute (NCI)

Recruiting

Whole Exome Sequencing in Finding Causative Variants in Germline DNA Samples From Patients With Congestive Heart Failure Receiving Therapy for Breast Cancer

Breast Carcinoma

United States
National Cancer Institute (NCI)

Recruiting

Whole Exome Sequencing in Finding Causative Variants in Germline DNA Samples From Patients With Hypertension Receiving Bevacizumab for Breast Cancer

Breast Carcinoma

United States
Aspira Women's Health

Terminated

A Multivariate Index Assay for Ovarian Cancer Risk Assessment in Women With Adnexal Mass and High-Risk Germline Variants (OVAnex)

Adnexal Mass

United States
National Cancer Institute (NCI)

Completed

Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)

Dyskeratosis Congenita | Telomere Biology Disorders

United States
Instituto do Cancer do Estado de São Paulo

Completed

Phenotype and Prognosis of Patients With Breast Cancer and Pathogenic Variants of TP53 (BREAST-TP53)

Breast Cancer | Li-Fraumeni Syndrome | TP53 R337H | Prognosis Breast Cancer

Brazil
Assistance Publique - Hôpitaux de Paris
French rare diseases Healthcare Network; The French Foundation for Rare Diseases

Active, not recruiting

Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants (EXODENT)

Amelogenesis Imperfecta | Dentinogenesis Imperfecta | Dentin Anomalies

France
Hellenic Cooperative Oncology Group

Completed

Pathogenic Variants in Homologous Recombination Repair Genes in Patients With Epithelial Ovarian Cancer (PaVaClO)

Epithelial Ovarian Cancer
Centre Hospitalier Universitaire de la Réunion

Recruiting

Pathogenicity of Species of the Achromobacter Genus in Patients From Reunion Island With Cystic Fibrosis (ACHROMO-MUCO)

Cystic Fibrosis

Réunion
Zhujiang Hospital

Recruiting

Investigation on the Detection Rate of Pathogenic Viruses in Feces of Parenteral Infected Individuals

Virus Infections

China
Alnylam Pharmaceuticals

Recruiting

Observational Study of Neurofilament Light Chain (NfL) as a Biomarker in Asymptomatic Carriers of the Transthyretin (TTR) Variants and Patients With Hereditary Transthyretin-mediated (hATTR) Amyloidosis With Polyneuropathy

Hereditary Amyloidosis, Transthyretin-Related | Asymptomatic Carrier State

France
Regeneron Pharmaceuticals

Not yet recruiting

First in Human (FIH) Study of ALN-SOD in Adult Participants With Amyotrophic Lateral Sclerosis Associated With Mutation in the SOD1 Gene (SOD1-ALS)

Amyotrophic Lateral Sclerosis (ALS) | Mutation in the Superoxide Dismutase-1 (SOD1) Gene
University Hospital, Lille
France Alzheimer

Not yet recruiting

Social & Affective Cognition in Alzheimer's Disease & Associated Disorders (SOCIALIZE)

Alzheimer's Disease | Frontotemporal Degeneration (Semantic & Behavioral Variants)
Regeneron Pharmaceuticals

Not yet recruiting

A Trial to Learn if Linvoseltamab is Safe and Works in Adults With Relapsed or Refractory Systemic Light Chain Amyloidosis (AL Amyloidosis) (LINKER-AL2)

Relapsed/Refractory Systemic Light Chain Amyloidosis
University Hospital Tuebingen

Recruiting

Non-Invasive Plasma Treatment for Cervical Infections: Targeting High- and Low-Risk HPV Variants

Cervical Cancer | HPV Infection

Germany
Medanta, The Medicity, India

Recruiting

Combining Gene Variants to Improve Risk Prediction for Metabolic (Dysfunction)- Associated Fatty Liver Disease and Its Progression to Cirrhosis in Indian Individuals With Type 2 Diabetes

Type2diabetes

India
Hvivo
Pfizer

Recruiting

Dose, Safety, and Pathogenicity of a New Influenza B Strain

Influenza B

United Kingdom
Sohag University

Recruiting

Prevalence of Anatomical Variants of Dural Sinuses by Magnetic Resonance Venography Evaluation in Sohag

Anatomical Variants of Dural Sinuses by Magnetic Resonance Venography

Egypt
Nantes University Hospital
AXA Assurances VIE Mutuelle

Not yet recruiting

Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome (BIOMINRISK)

Sudden Infant Death | Sudden Unexplained Infant Death

France
University of Copenhagen
Gentofte Hospital, Denmark

Recruiting

The Effect of GIP, GLP-1 and GLP-2 in Individuals With Genetically Altered Receptor Function (H-21044858)

Incretin Effect

Denmark
Sohag University

Recruiting

Prevalence of Anatomical Variants of Dural Sinuses by MRV Evaluation in Sohag

Anatomical Variants of Dural Sinuses by MRV

Egypt
Hospital do Rim e Hipertensão

Recruiting

Evaluation of APOL1 Gene Variants in Kidney Donors and Their Impact on Long-term Renal Function in Donors and Recipients

Kidney Diseases | Transplant Failure

Brazil
Lexeo Therapeutics

Recruiting

Gene Therapy for ACM Due to a PKP2 Pathogenic Variant

Arrhythmogenic Cardiomyopathy | PKP2-ACM | PKP2-ARVC

United States
National Cancer Institute (NCI)

Recruiting

Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency

Inherited Bone Marrow Failure Syndrome | Familial Platelet Disorder With Predisposition to Myeloid Malignancies

United States
Nantes University Hospital
Institut National de la Santé Et de la Recherche Médicale, France; Centre National...

Recruiting

Building of a Diagnostic/Prognostic Database for Human ERG Variant Effects (CarDiag)

Long QT Syndrome

France
Central Hospital, Nancy, France

Recruiting

Olfactory Cleft Stenosis and Obstruction on Paranasal Sinus CT Scan in Pre Septo Rhinoplasty Patients Without Respiratory Mucosa Pathology : Normal Variants or Pathologic Findings ?

Olfactory Impairment

France
Örebro University, Sweden
NutriLeads B.V. (Wageningen, The Netherlands); ProDigest (Ghent, Belgium); Ambiotis...

Recruiting

Towards a Food Ingredient Clinically Proven to Benefit Gut Health: Novel RG-I Variants (NUTRIGUT)

Healthy

Sweden
Stanford University

Not yet recruiting

Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

PTEN Gene Mutation | PTEN Hamartoma Tumor Syndrome | PTEN Hamartoma Syndrome

United States
Nanfang Hospital, Southern Medical University

Recruiting

Pathogenic Metagenomic Next-generation Sequencing to Optimize the Diagnosis of Decompensated Cirrhosis Infection

Cirrhosis, Liver

China
Institut Claudius Regaud

Recruiting

Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene. (LUCID)

DDX41 Gene Mutation

France
Mario Negri Institute for Pharmacological Research

Recruiting

New Analytic Tools for aHUS and C3G Diagnosis (COMPRare)

Healthy | Hemolytic-Uremic Syndrome | Membranoproliferative Glomerulonephritis

Italy
Institut Claudius Regaud

Recruiting

Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation (GATA-2)

GATA2 Gene Mutation

France
National Cancer Institute (NCI)

Recruiting

Decitabine/Cedazuridine (INQOVI), an Oral DNA Demethylating Agent, in Subjects With BAP1 Cancer Predisposition Syndrome and Subclinical, Early-Stage Mesothelioma

Mesothelioma | BRCA1-Associated Protein-1 (BAP1) Mutations | Malignant Mesothelioma (MM) | Early-stage Mesothelioma | Subclinical Mesothelioma | Early-stage BAP1-associated Malignancies

United States
University Hospital, Bordeaux

Not yet recruiting

Evaluation of the Efficacy of Immunomodulatory Therapy in Case of Psychiatric Disorders With Proven Dysimmunity. (TIM-DePisT)

Mental Disorder

France
Huashan Hospital

Recruiting

A Study on Pathogenic Surveillance and Nasopharyngeal Carriage of Children and Adolescents Based on Hospitals and Communities in Hainan Province

Pneumonia

China
University Hospital, Montpellier

Recruiting

Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis (GENEXPLOR)

Disorder of Sex Development, 46,XY

France
Institut Pasteur
Biogroup Laboratoire de biologie médicale

Recruiting

Understanding the Determinants of Mucosal Immunity and Optimizing the Diagnosis of Infection With SARS-CoV-2 Variants (COVARIANT)

COVID-19

France
The First Affiliated Hospital with Nanjing Medical...
Jiangsu HengRui Medicine Co., Ltd.

Recruiting

Neoadjuvant Fluzoparib in Germline BRCA-mutated Three-negative Breast Cancer Breast Cancer

TNBC - Triple-Negative Breast Cancer

China
Hospital Universitari Vall d'Hebron Research Institute
Hospital Universitario La Paz

Not yet recruiting

Identification and Characterization of Genetic Variants in Hereditary Angioedema (GENOMAEH_01)

Hereditary Angioedema With C1 Esterase Inhibitor Deficiency

Spain
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

PREDICTION OF GERMLINE BRCA 1/2 GENES FROM HEALTHY OVARIES

Ovarian Cancer | Ultrasound Therapy; Complications | BRCA Mutation

Italy

Search clinical trials for: Germline Pathogenic/Likely pathogenic variants

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